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 37452396 37452396 + Missense_Mutation SNP C C T TCGA-DK-AA6R-01A-11D-A42E-08 TCGA-DK-AA6R-10A-01D-A42H-08 g.chr22:37452396C>T c.356C>T c.(355-357)cCg>cTg p.P119L BLCA 22 37452445 37452445 + Silent SNP C C T TCGA-4Z-AA7R-01A-11D-A391-08 TCGA-4Z-AA7R-10A-01D-A394-08 g.chr22:37452445C>T c.405C>T c.(403-405)gtC>gtT p.V135V BLCA 22 37455372 37455372 + Missense_Mutation SNP C C G TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr22:37455372C>G c.527C>G c.(526-528)tCc>tGc p.S176C BLCA 22 37458602 37458602 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr22:37458602G>A c.934G>A c.(934-936)Gat>Aat p.D312N BRCA 22 37455388 37455388 + Silent SNP C C T TCGA-A2-A0CT-01A-31W-A071-09 TCGA-A2-A0CT-10A-01W-A071-09 g.chr22:37455388C>T c.543C>T c.(541-543)agC>agT p.S181S BRCA 22 37457643 37457643 + Silent SNP C C T TCGA-AC-A3W6-01A-12D-A228-09 TCGA-AC-A3W6-10A-01D-A22A-09 g.chr22:37457643C>T c.870C>T c.(868-870)ctC>ctT p.L290L COAD 22 37456897 37456899 + In_Frame_Del DEL AGG AGG - TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr22:37456897_37456899delAGG c.668_670delAGG c.(667-672)caggag>cag p.E226del COADREAD 22 37456897 37456899 + In_Frame_Del DEL AGG AGG - TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr22:37456897_37456899delAGG c.668_670delAGG c.(667-672)caggag>cag p.E226del DLBC 22 37458571 37458571 + Silent SNP C C T TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr22:37458571C>T c.903C>T c.(901-903)taC>taT p.Y301Y KIPAN 22 37455447 37455447 + Missense_Mutation SNP G G T TCGA-BP-4337-01A-01D-1366-10 TCGA-BP-4337-11A-01D-1366-10 g.chr22:37455447G>T c.602G>T c.(601-603)gGg>gTg p.G201V KIPAN 22 37458580 37458581 + Missense_Mutation DNP GG GG CT TCGA-UZ-A9PO-01A-11D-A382-10 TCGA-UZ-A9PO-10A-01D-A385-10 g.chr22:37458580_37458581GG>CT c.912_913GG>CT c.(910-915)gaGGca>gaCTca p.304_305EA>DS KIRC 22 37455447 37455447 + Missense_Mutation SNP G G T TCGA-BP-4337-01A-01D-1366-10 TCGA-BP-4337-11A-01D-1366-10 g.chr22:37455447G>T c.602G>T c.(601-603)gGg>gTg p.G201V KIRP 22 37458580 37458581 + Missense_Mutation DNP GG GG CT TCGA-UZ-A9PO-01A-11D-A382-10 TCGA-UZ-A9PO-10A-01D-A385-10 g.chr22:37458580_37458581GG>CT c.912_913GG>CT c.(910-915)gaGGca>gaCTca p.304_305EA>DS LIHC 22 37449146 37449146 + Missense_Mutation SNP A A G TCGA-DD-A3A1-01A-11D-A20W-10 TCGA-DD-A3A1-11A-11D-A20W-10 g.chr22:37449146A>G c.217A>G c.(217-219)Acc>Gcc p.T73A LIHC 22 37453518 37453518 + Silent SNP C C T TCGA-DD-A39X-01A-11D-A20W-10 TCGA-DD-A39X-11A-11D-A20W-10 g.chr22:37453518C>T c.492C>T c.(490-492)ggC>ggT p.G164G LUAD 22 37458588 37458588 + Missense_Mutation SNP G G A TCGA-O1-A52J-01A-11D-A25L-08 TCGA-O1-A52J-10A-01D-A25L-08 g.chr22:37458588G>A c.920G>A c.(919-921)gGa>gAa p.G307E OV 22 37458586 37458586 + Silent SNP C C T TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 g.chr22:37458586C>T c.918C>T c.(916-918)ccC>ccT p.P306P PRAD 22 37455445 37455445 + Silent SNP C C T TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr22:37455445C>T c.600C>T c.(598-600)aaC>aaT p.N200N SKCM 22 37452391 37452391 + Silent SNP C C T TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr22:37452391C>T c.351C>T c.(349-351)atC>atT p.I117I SKCM 22 37457582 37457582 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr22:37457582C>T c.809C>T c.(808-810)tCc>tTc p.S270F SKCM 22 37457666 37457666 + Missense_Mutation SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr22:37457666C>T c.893C>T c.(892-894)cCc>cTc p.P298L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-UK 22 37462128 37462128 single base substitution C G downstream_gene_variant BRCA-EU 22 37443945 37443945 insertion of <=200bp - TAAA upstream_gene_variant BRCA-EU 22 37444065 37444065 single base substitution C A upstream_gene_variant BRCA-EU 22 37444202 37444202 single base substitution G T upstream_gene_variant BRCA-EU 22 37444726 37444726 single base substitution G C upstream_gene_variant BRCA-EU 22 37445247 37445247 single base substitution G C upstream_gene_variant BRCA-EU 22 37445420 37445420 single base substitution T C upstream_gene_variant BRCA-EU 22 37445575 37445575 insertion of <=200bp - T upstream_gene_variant BRCA-EU 22 37445608 37445608 single base substitution T C upstream_gene_variant BRCA-EU 22 37445700 37445700 single base substitution C T upstream_gene_variant BRCA-EU 22 37445940 37445940 single base substitution T G upstream_gene_variant BRCA-EU 22 37447085 37447085 single base substitution C T upstream_gene_variant BRCA-EU 22 37449411 37449411 single base substitution G A downstream_gene_variant BRCA-EU 22 37449411 37449411 single base substitution G A intron_variant BRCA-EU 22 37449411 37449411 single base substitution G A upstream_gene_variant BRCA-EU 22 37449848 37449848 single base substitution C T downstream_gene_variant BRCA-EU 22 37449848 37449848 single base substitution C T intron_variant BRCA-EU 22 37449848 37449848 single base substitution C T upstream_gene_variant BRCA-EU 22 37450984 37450984 single base substitution T G downstream_gene_variant BRCA-EU 22 37450984 37450984 single base substitution T G intron_variant BRCA-EU 22 37450984 37450984 single base substitution T G upstream_gene_variant BRCA-EU 22 37454617 37454617 single base substitution C A intron_variant BRCA-EU 22 37456050 37456050 single base substitution G T downstream_gene_variant BRCA-EU 22 37456050 37456050 single base substitution G T intron_variant BRCA-EU 22 37456457 37456457 single base substitution C T downstream_gene_variant BRCA-EU 22 37456457 37456457 single base substitution C T intron_variant BRCA-EU 22 37456884 37456884 single base substitution G C downstream_gene_variant BRCA-EU 22 37456884 37456884 single base substitution G C exon_variant BRCA-EU 22 37456884 37456884 single base substitution G C intron_variant BRCA-EU 22 37456884 37456884 single base substitution G C missense_variant E219Q 655G>C BRCA-EU 22 37457109 37457109 single base substitution G A downstream_gene_variant BRCA-EU 22 37457109 37457109 single base substitution G A exon_variant BRCA-EU 22 37457109 37457109 single base substitution G A intron_variant BRCA-EU 22 37458203 37458203 single base substitution G A downstream_gene_variant BRCA-EU 22 37458203 37458203 single base substitution G A intron_variant BRCA-EU 22 37460043 37460043 deletion of <=200bp T - downstream_gene_variant BRCA-EU 22 37460400 37460400 single base substitution G A downstream_gene_variant BRCA-EU 22 37460888 37460888 single base substitution C A downstream_gene_variant BRCA-EU 22 37461227 37461227 single base substitution C G downstream_gene_variant BRCA-EU 22 37462375 37462375 single base substitution G C downstream_gene_variant BRCA-EU 22 37463074 37463074 single base substitution A G downstream_gene_variant BRCA-EU 22 37463882 37463882 single base substitution T A downstream_gene_variant BRCA-EU 22 37464026 37464026 single base substitution C A downstream_gene_variant BRCA-FR 22 37449848 37449848 single base substitution C T downstream_gene_variant BRCA-FR 22 37449848 37449848 single base substitution C T intron_variant BRCA-FR 22 37449848 37449848 single base substitution C T upstream_gene_variant BRCA-FR 22 37452186 37452186 single base substitution G T downstream_gene_variant BRCA-FR 22 37452186 37452186 single base substitution G T intron_variant BRCA-FR 22 37452186 37452186 single base substitution G T upstream_gene_variant BRCA-FR 22 37454013 37454013 single base substitution A G downstream_gene_variant BRCA-FR 22 37454013 37454013 single base substitution A G intron_variant BRCA-UK 22 37463151 37463151 single base substitution C T downstream_gene_variant BRCA-US 22 37455388 37455388 single base substitution C T downstream_gene_variant BRCA-US 22 37455388 37455388 single base substitution C T exon_variant BRCA-US 22 37455388 37455388 single base substitution C T synonymous_variant S135S 405C>T BRCA-US 22 37455388 37455388 single base substitution C T synonymous_variant S181S 543C>T BRCA-US 22 37457643 37457643 single base substitution C T 3_prime_UTR_variant BRCA-US 22 37457643 37457643 single base substitution C T downstream_gene_variant BRCA-US 22 37457643 37457643 single base substitution C T synonymous_variant L266L 798C>T BRCA-US 22 37457643 37457643 single base substitution C T synonymous_variant L290L 870C>T BTCA-JP 22 37449076 37449076 single base substitution G A intron_variant BTCA-JP 22 37449076 37449076 single base substitution G A upstream_gene_variant COAD-US 22 37447965 37447965 deletion of <=200bp G - exon_variant COAD-US 22 37447965 37447965 deletion of <=200bp G - frameshift_variant Q16 COAD-US 22 37447965 37447965 deletion of <=200bp G - frameshift_variant Q62 COAD-US 22 37447965 37447965 deletion of <=200bp G - upstream_gene_variant COAD-US 22 37456897 37456899 deletion of <=200bp AGG - downstream_gene_variant COAD-US 22 37456897 37456899 deletion of <=200bp AGG - exon_variant COAD-US 22 37456897 37456899 deletion of <=200bp AGG - inframe_deletion QE223Q COAD-US 22 37456897 37456899 deletion of <=200bp AGG - intron_variant COCA-CN 22 37448500 37448500 single base substitution G A 5_prime_UTR_variant COCA-CN 22 37448500 37448500 single base substitution G A intron_variant COCA-CN 22 37448500 37448500 single base substitution G A upstream_gene_variant COCA-CN 22 37452269 37452269 single base substitution G A downstream_gene_variant COCA-CN 22 37452269 37452269 single base substitution G A intron_variant COCA-CN 22 37452269 37452269 single base substitution G A upstream_gene_variant COCA-CN 22 37457742 37457742 single base substitution G A downstream_gene_variant COCA-CN 22 37457742 37457742 single base substitution G A intron_variant COCA-CN 22 37462163 37462163 single base substitution C T downstream_gene_variant COCA-CN 22 37462262 37462262 single base substitution G A downstream_gene_variant ESAD-UK 22 37442799 37442799 single base substitution C A upstream_gene_variant ESAD-UK 22 37443703 37443703 single base substitution G A upstream_gene_variant ESAD-UK 22 37443964 37443964 insertion of <=200bp - A upstream_gene_variant ESAD-UK 22 37446508 37446508 single base substitution T C upstream_gene_variant ESAD-UK 22 37446886 37446886 single base substitution A T upstream_gene_variant ESAD-UK 22 37450387 37450387 single base substitution C T downstream_gene_variant ESAD-UK 22 37450387 37450387 single base substitution C T intron_variant ESAD-UK 22 37450387 37450387 single base substitution C T upstream_gene_variant ESAD-UK 22 37451029 37451029 single base substitution C T downstream_gene_variant ESAD-UK 22 37451029 37451029 single base substitution C T intron_variant ESAD-UK 22 37451029 37451029 single base substitution C T upstream_gene_variant ESAD-UK 22 37452257 37452257 single base substitution C T downstream_gene_variant ESAD-UK 22 37452257 37452257 single base substitution C T intron_variant ESAD-UK 22 37452257 37452257 single base substitution C T upstream_gene_variant ESAD-UK 22 37452886 37452886 single base substitution G T downstream_gene_variant ESAD-UK 22 37452886 37452886 single base substitution G T intron_variant ESAD-UK 22 37452886 37452886 single base substitution G T upstream_gene_variant ESAD-UK 22 37455039 37455039 deletion of <=200bp C - intron_variant ESAD-UK 22 37455303 37455303 single base substitution C T intron_variant ESAD-UK 22 37457063 37457063 insertion of <=200bp - G downstream_gene_variant ESAD-UK 22 37457063 37457063 insertion of <=200bp - G exon_variant ESAD-UK 22 37457063 37457063 insertion of <=200bp - G intron_variant ESAD-UK 22 37458465 37458465 single base substitution G A downstream_gene_variant ESAD-UK 22 37458465 37458465 single base substitution G A intron_variant ESAD-UK 22 37459508 37459508 single base substitution G A downstream_gene_variant ESAD-UK 22 37460549 37460549 single base substitution C T downstream_gene_variant ESAD-UK 22 37461769 37461769 single base substitution C T downstream_gene_variant KIRC-US 22 37455447 37455447 single base substitution G T downstream_gene_variant KIRC-US 22 37455447 37455447 single base substitution G T exon_variant KIRC-US 22 37455447 37455447 single base substitution G T missense_variant G155V 464G>T KIRC-US 22 37455447 37455447 single base substitution G T missense_variant G201V 602G>T KIRC-US 22 37462221 37462221 single base substitution C G downstream_gene_variant LGG-US 22 37462868 37462868 single base substitution G A downstream_gene_variant LICA-FR 22 37447855 37447855 single base substitution G A missense_variant A26T 76G>A LICA-FR 22 37447855 37447855 single base substitution G A upstream_gene_variant LICA-FR 22 37449213 37449213 single base substitution G A exon_variant LICA-FR 22 37449213 37449213 single base substitution G A missense_variant G49D 146G>A LICA-FR 22 37449213 37449213 single base substitution G A missense_variant G56D 167G>A LICA-FR 22 37449213 37449213 single base substitution G A missense_variant G95D 284G>A LICA-FR 22 37449213 37449213 single base substitution G A upstream_gene_variant LICA-FR 22 37452376 37452376 single base substitution C A downstream_gene_variant LICA-FR 22 37452376 37452376 single base substitution C A exon_variant LICA-FR 22 37452376 37452376 single base substitution C A synonymous_variant A112A 336C>A LICA-FR 22 37452376 37452376 single base substitution C A synonymous_variant A66A 198C>A LICA-FR 22 37452376 37452376 single base substitution C A upstream_gene_variant LICA-FR 22 37453473 37453473 single base substitution C T 3_prime_UTR_variant LICA-FR 22 37453473 37453473 single base substitution C T downstream_gene_variant LICA-FR 22 37453473 37453473 single base substitution C T exon_variant LICA-FR 22 37453473 37453473 single base substitution C T synonymous_variant C103C 309C>T LICA-FR 22 37453473 37453473 single base substitution C T synonymous_variant C149C 447C>T LIHC-US 22 37453518 37453518 single base substitution C T 3_prime_UTR_variant LIHC-US 22 37453518 37453518 single base substitution C T downstream_gene_variant LIHC-US 22 37453518 37453518 single base substitution C T exon_variant LIHC-US 22 37453518 37453518 single base substitution C T synonymous_variant G118G 354C>T LIHC-US 22 37453518 37453518 single base substitution C T synonymous_variant G164G 492C>T LINC-JP 22 37457142 37457142 single base substitution A T downstream_gene_variant LINC-JP 22 37457142 37457142 single base substitution A T exon_variant LINC-JP 22 37457142 37457142 single base substitution A T intron_variant LINC-JP 22 37457142 37457142 single base substitution A T splice_acceptor_variant LIRI-JP 22 37448992 37448992 single base substitution A C intron_variant LIRI-JP 22 37448992 37448992 single base substitution A C upstream_gene_variant LIRI-JP 22 37449050 37449050 single base substitution C A intron_variant LIRI-JP 22 37449050 37449050 single base substitution C A upstream_gene_variant LIRI-JP 22 37461248 37461248 single base substitution C T downstream_gene_variant LUSC-KR 22 37445301 37445301 single base substitution C T upstream_gene_variant LUSC-KR 22 37448554 37448554 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 22 37448554 37448554 single base substitution C G intron_variant LUSC-KR 22 37448554 37448554 single base substitution C G upstream_gene_variant LUSC-KR 22 37450133 37450133 single base substitution C T downstream_gene_variant LUSC-KR 22 37450133 37450133 single base substitution C T intron_variant LUSC-KR 22 37450133 37450133 single base substitution C T upstream_gene_variant LUSC-KR 22 37452258 37452258 single base substitution G A downstream_gene_variant LUSC-KR 22 37452258 37452258 single base substitution G A intron_variant LUSC-KR 22 37452258 37452258 single base substitution G A upstream_gene_variant LUSC-KR 22 37463016 37463016 single base substitution A T downstream_gene_variant LUSC-KR 22 37463773 37463773 single base substitution A G downstream_gene_variant LUSC-US 22 37462230 37462230 single base substitution A G downstream_gene_variant MALY-DE 22 37445313 37445313 single base substitution C G upstream_gene_variant MALY-DE 22 37453292 37453292 single base substitution G T downstream_gene_variant MALY-DE 22 37453292 37453292 single base substitution G T intron_variant MALY-DE 22 37453292 37453292 single base substitution G T upstream_gene_variant MELA-AU 22 37442830 37442830 single base substitution C T upstream_gene_variant MELA-AU 22 37443087 37443087 single base substitution C T upstream_gene_variant MELA-AU 22 37443259 37443259 single base substitution C T upstream_gene_variant MELA-AU 22 37443279 37443279 single base substitution G A upstream_gene_variant MELA-AU 22 37443433 37443433 single base substitution C T upstream_gene_variant MELA-AU 22 37443712 37443712 single base substitution G A upstream_gene_variant MELA-AU 22 37443914 37443914 single base substitution C T upstream_gene_variant MELA-AU 22 37444064 37444065 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 22 37444113 37444113 single base substitution G A upstream_gene_variant MELA-AU 22 37444255 37444255 single base substitution C T upstream_gene_variant MELA-AU 22 37444515 37444515 single base substitution C T upstream_gene_variant MELA-AU 22 37444908 37444908 single base substitution C T upstream_gene_variant MELA-AU 22 37445098 37445098 single base substitution G A upstream_gene_variant MELA-AU 22 37445287 37445287 single base substitution C T upstream_gene_variant MELA-AU 22 37445516 37445516 single base substitution C T upstream_gene_variant MELA-AU 22 37445665 37445665 single base substitution C T upstream_gene_variant MELA-AU 22 37445694 37445694 single base substitution G A upstream_gene_variant MELA-AU 22 37446078 37446078 single base substitution C T upstream_gene_variant MELA-AU 22 37446151 37446151 single base substitution T G upstream_gene_variant MELA-AU 22 37446744 37446744 single base substitution G A upstream_gene_variant MELA-AU 22 37446795 37446795 single base substitution G A upstream_gene_variant MELA-AU 22 37446810 37446810 single base substitution G A upstream_gene_variant MELA-AU 22 37446906 37446906 single base substitution C A upstream_gene_variant MELA-AU 22 37447000 37447000 single base substitution C T upstream_gene_variant MELA-AU 22 37448027 37448027 single base substitution T A intron_variant MELA-AU 22 37448027 37448027 single base substitution T A upstream_gene_variant MELA-AU 22 37448907 37448907 single base substitution G A intron_variant MELA-AU 22 37448907 37448907 single base substitution G A upstream_gene_variant MELA-AU 22 37449175 37449175 single base substitution C T exon_variant MELA-AU 22 37449175 37449175 single base substitution C T synonymous_variant P36P 108C>T MELA-AU 22 37449175 37449175 single base substitution C T synonymous_variant P43P 129C>T MELA-AU 22 37449175 37449175 single base substitution C T synonymous_variant P82P 246C>T MELA-AU 22 37449175 37449175 single base substitution C T upstream_gene_variant MELA-AU 22 37449202 37449202 single base substitution C T exon_variant MELA-AU 22 37449202 37449202 single base substitution C T synonymous_variant F45F 135C>T MELA-AU 22 37449202 37449202 single base substitution C T synonymous_variant F52F 156C>T MELA-AU 22 37449202 37449202 single base substitution C T synonymous_variant F91F 273C>T MELA-AU 22 37449202 37449202 single base substitution C T upstream_gene_variant MELA-AU 22 37449520 37449520 single base substitution C T downstream_gene_variant MELA-AU 22 37449520 37449520 single base substitution C T intron_variant MELA-AU 22 37449520 37449520 single base substitution C T upstream_gene_variant MELA-AU 22 37449847 37449847 single base substitution C T downstream_gene_variant MELA-AU 22 37449847 37449847 single base substitution C T intron_variant MELA-AU 22 37449847 37449847 single base substitution C T upstream_gene_variant MELA-AU 22 37450388 37450388 single base substitution C T downstream_gene_variant MELA-AU 22 37450388 37450388 single base substitution C T intron_variant MELA-AU 22 37450388 37450388 single base substitution C T upstream_gene_variant MELA-AU 22 37450542 37450542 single base substitution C T downstream_gene_variant MELA-AU 22 37450542 37450542 single base substitution C T intron_variant MELA-AU 22 37450542 37450542 single base substitution C T upstream_gene_variant MELA-AU 22 37450594 37450594 single base substitution G A downstream_gene_variant MELA-AU 22 37450594 37450594 single base substitution G A intron_variant MELA-AU 22 37450594 37450594 single base substitution G A upstream_gene_variant MELA-AU 22 37451029 37451029 single base substitution C T downstream_gene_variant MELA-AU 22 37451029 37451029 single base substitution C T intron_variant MELA-AU 22 37451029 37451029 single base substitution C T upstream_gene_variant MELA-AU 22 37451035 37451035 single base substitution C T downstream_gene_variant MELA-AU 22 37451035 37451035 single base substitution C T intron_variant MELA-AU 22 37451035 37451035 single base substitution C T upstream_gene_variant MELA-AU 22 37451095 37451095 single base substitution C T downstream_gene_variant MELA-AU 22 37451095 37451095 single base substitution C T intron_variant MELA-AU 22 37451095 37451095 single base substitution C T upstream_gene_variant MELA-AU 22 37451465 37451465 single base substitution C T downstream_gene_variant MELA-AU 22 37451465 37451465 single base substitution C T intron_variant MELA-AU 22 37451465 37451465 single base substitution C T upstream_gene_variant MELA-AU 22 37451538 37451538 single base substitution G A downstream_gene_variant MELA-AU 22 37451538 37451538 single base substitution G A intron_variant MELA-AU 22 37451538 37451538 single base substitution G A upstream_gene_variant MELA-AU 22 37451562 37451563 multiple base substitution (>=2bp and <=200bp) GG TA downstream_gene_variant MELA-AU 22 37451562 37451563 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 22 37451562 37451563 multiple base substitution (>=2bp and <=200bp) GG TA upstream_gene_variant MELA-AU 22 37451618 37451618 single base substitution T G downstream_gene_variant MELA-AU 22 37451618 37451618 single base substitution T G intron_variant MELA-AU 22 37451618 37451618 single base substitution T G upstream_gene_variant MELA-AU 22 37451706 37451706 single base substitution C T downstream_gene_variant MELA-AU 22 37451706 37451706 single base substitution C T intron_variant MELA-AU 22 37451706 37451706 single base substitution C T upstream_gene_variant MELA-AU 22 37451725 37451725 single base substitution C T downstream_gene_variant MELA-AU 22 37451725 37451725 single base substitution C T intron_variant MELA-AU 22 37451725 37451725 single base substitution C T upstream_gene_variant MELA-AU 22 37451764 37451764 single base substitution G A downstream_gene_variant MELA-AU 22 37451764 37451764 single base substitution G A intron_variant MELA-AU 22 37451764 37451764 single base substitution G A upstream_gene_variant MELA-AU 22 37452287 37452287 single base substitution G A downstream_gene_variant MELA-AU 22 37452287 37452287 single base substitution G A intron_variant MELA-AU 22 37452287 37452287 single base substitution G A upstream_gene_variant MELA-AU 22 37452304 37452304 single base substitution G A downstream_gene_variant MELA-AU 22 37452304 37452304 single base substitution G A intron_variant MELA-AU 22 37452304 37452304 single base substitution G A upstream_gene_variant MELA-AU 22 37452335 37452335 single base substitution C T downstream_gene_variant MELA-AU 22 37452335 37452335 single base substitution C T intron_variant MELA-AU 22 37452335 37452335 single base substitution C T upstream_gene_variant MELA-AU 22 37452722 37452722 single base substitution C T downstream_gene_variant MELA-AU 22 37452722 37452722 single base substitution C T intron_variant MELA-AU 22 37452722 37452722 single base substitution C T upstream_gene_variant MELA-AU 22 37453087 37453087 single base substitution A T downstream_gene_variant MELA-AU 22 37453087 37453087 single base substitution A T intron_variant MELA-AU 22 37453087 37453087 single base substitution A T upstream_gene_variant MELA-AU 22 37453180 37453180 single base substitution A G downstream_gene_variant MELA-AU 22 37453180 37453180 single base substitution A G intron_variant MELA-AU 22 37453180 37453180 single base substitution A G upstream_gene_variant MELA-AU 22 37453232 37453232 single base substitution G A downstream_gene_variant MELA-AU 22 37453232 37453232 single base substitution G A intron_variant MELA-AU 22 37453232 37453232 single base substitution G A upstream_gene_variant MELA-AU 22 37453236 37453236 single base substitution G A downstream_gene_variant MELA-AU 22 37453236 37453236 single base substitution G A intron_variant MELA-AU 22 37453236 37453236 single base substitution G A upstream_gene_variant MELA-AU 22 37453388 37453388 single base substitution G A downstream_gene_variant MELA-AU 22 37453388 37453388 single base substitution G A intron_variant MELA-AU 22 37453388 37453388 single base substitution G A upstream_gene_variant MELA-AU 22 37453440 37453440 single base substitution C T 3_prime_UTR_variant MELA-AU 22 37453440 37453440 single base substitution C T downstream_gene_variant MELA-AU 22 37453440 37453440 single base substitution C T exon_variant MELA-AU 22 37453440 37453440 single base substitution C T splice_region_variant MELA-AU 22 37453624 37453624 single base substitution C T downstream_gene_variant MELA-AU 22 37453624 37453624 single base substitution C T intron_variant MELA-AU 22 37453654 37453655 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 22 37453654 37453655 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 37453726 37453726 single base substitution G A downstream_gene_variant MELA-AU 22 37453726 37453726 single base substitution G A intron_variant MELA-AU 22 37453947 37453947 single base substitution C T downstream_gene_variant MELA-AU 22 37453947 37453947 single base substitution C T intron_variant MELA-AU 22 37454174 37454174 single base substitution A C downstream_gene_variant MELA-AU 22 37454174 37454174 single base substitution A C intron_variant MELA-AU 22 37454183 37454183 single base substitution C T downstream_gene_variant MELA-AU 22 37454183 37454183 single base substitution C T intron_variant MELA-AU 22 37454734 37454734 single base substitution G A intron_variant MELA-AU 22 37454914 37454914 single base substitution G A intron_variant MELA-AU 22 37454988 37454988 single base substitution G A intron_variant MELA-AU 22 37455401 37455401 single base substitution G A downstream_gene_variant MELA-AU 22 37455401 37455401 single base substitution G A exon_variant MELA-AU 22 37455401 37455401 single base substitution G A missense_variant E140K 418G>A MELA-AU 22 37455401 37455401 single base substitution G A missense_variant E186K 556G>A MELA-AU 22 37455462 37455462 single base substitution C T downstream_gene_variant MELA-AU 22 37455462 37455462 single base substitution C T exon_variant MELA-AU 22 37455462 37455462 single base substitution C T missense_variant S160F 479C>T MELA-AU 22 37455462 37455462 single base substitution C T missense_variant S206F 617C>T MELA-AU 22 37455497 37455497 single base substitution G A downstream_gene_variant MELA-AU 22 37455497 37455497 single base substitution G A exon_variant MELA-AU 22 37455497 37455497 single base substitution G A intron_variant MELA-AU 22 37455879 37455879 single base substitution G A downstream_gene_variant MELA-AU 22 37455879 37455879 single base substitution G A intron_variant MELA-AU 22 37455961 37455961 single base substitution C T downstream_gene_variant MELA-AU 22 37455961 37455961 single base substitution C T intron_variant MELA-AU 22 37455989 37455989 single base substitution C T downstream_gene_variant MELA-AU 22 37455989 37455989 single base substitution C T intron_variant MELA-AU 22 37456074 37456074 single base substitution C T downstream_gene_variant MELA-AU 22 37456074 37456074 single base substitution C T intron_variant MELA-AU 22 37456087 37456087 single base substitution C T downstream_gene_variant MELA-AU 22 37456087 37456087 single base substitution C T intron_variant MELA-AU 22 37456175 37456175 single base substitution G A downstream_gene_variant MELA-AU 22 37456175 37456175 single base substitution G A intron_variant MELA-AU 22 37456428 37456428 single base substitution G A downstream_gene_variant MELA-AU 22 37456428 37456428 single base substitution G A intron_variant MELA-AU 22 37456693 37456693 single base substitution G T downstream_gene_variant MELA-AU 22 37456693 37456693 single base substitution G T intron_variant MELA-AU 22 37456718 37456718 single base substitution C T downstream_gene_variant MELA-AU 22 37456718 37456718 single base substitution C T intron_variant MELA-AU 22 37456837 37456837 single base substitution C T downstream_gene_variant MELA-AU 22 37456837 37456837 single base substitution C T intron_variant MELA-AU 22 37456911 37456911 single base substitution G C downstream_gene_variant MELA-AU 22 37456911 37456911 single base substitution G C exon_variant MELA-AU 22 37456911 37456911 single base substitution G C intron_variant MELA-AU 22 37456911 37456911 single base substitution G C missense_variant E228Q 682G>C MELA-AU 22 37457020 37457020 single base substitution C T downstream_gene_variant MELA-AU 22 37457020 37457020 single base substitution C T exon_variant MELA-AU 22 37457020 37457020 single base substitution C T intron_variant MELA-AU 22 37457206 37457206 single base substitution C T downstream_gene_variant MELA-AU 22 37457206 37457206 single base substitution C T exon_variant MELA-AU 22 37457206 37457206 single base substitution C T intron_variant MELA-AU 22 37457206 37457206 single base substitution C T missense_variant P266S 796C>T MELA-AU 22 37457247 37457247 single base substitution C T downstream_gene_variant MELA-AU 22 37457247 37457247 single base substitution C T exon_variant MELA-AU 22 37457247 37457247 single base substitution C T intron_variant MELA-AU 22 37457351 37457351 single base substitution C T downstream_gene_variant MELA-AU 22 37457351 37457351 single base substitution C T exon_variant MELA-AU 22 37457351 37457351 single base substitution C T intron_variant MELA-AU 22 37457365 37457365 single base substitution C T downstream_gene_variant MELA-AU 22 37457365 37457365 single base substitution C T exon_variant MELA-AU 22 37457365 37457365 single base substitution C T intron_variant MELA-AU 22 37457378 37457378 single base substitution C T downstream_gene_variant MELA-AU 22 37457378 37457378 single base substitution C T exon_variant MELA-AU 22 37457378 37457378 single base substitution C T intron_variant MELA-AU 22 37457534 37457534 single base substitution C T downstream_gene_variant MELA-AU 22 37457534 37457534 single base substitution C T intron_variant MELA-AU 22 37457666 37457666 single base substitution C T 3_prime_UTR_variant MELA-AU 22 37457666 37457666 single base substitution C T downstream_gene_variant MELA-AU 22 37457666 37457666 single base substitution C T missense_variant P274L 821C>T MELA-AU 22 37457666 37457666 single base substitution C T missense_variant P298L 893C>T MELA-AU 22 37457743 37457743 single base substitution C T downstream_gene_variant MELA-AU 22 37457743 37457743 single base substitution C T intron_variant MELA-AU 22 37457965 37457965 single base substitution C T downstream_gene_variant MELA-AU 22 37457965 37457965 single base substitution C T intron_variant MELA-AU 22 37458067 37458067 single base substitution C T downstream_gene_variant MELA-AU 22 37458067 37458067 single base substitution C T intron_variant MELA-AU 22 37458073 37458073 single base substitution C T downstream_gene_variant MELA-AU 22 37458073 37458073 single base substitution C T intron_variant MELA-AU 22 37458187 37458187 single base substitution C T downstream_gene_variant MELA-AU 22 37458187 37458187 single base substitution C T intron_variant MELA-AU 22 37458202 37458202 single base substitution C T downstream_gene_variant MELA-AU 22 37458202 37458202 single base substitution C T intron_variant MELA-AU 22 37458220 37458220 single base substitution C T downstream_gene_variant MELA-AU 22 37458220 37458220 single base substitution C T intron_variant MELA-AU 22 37458243 37458243 single base substitution C T downstream_gene_variant MELA-AU 22 37458243 37458243 single base substitution C T intron_variant MELA-AU 22 37458683 37458683 single base substitution G A 3_prime_UTR_variant MELA-AU 22 37458683 37458683 single base substitution G A downstream_gene_variant MELA-AU 22 37458872 37458872 single base substitution C T 3_prime_UTR_variant MELA-AU 22 37458872 37458872 single base substitution C T downstream_gene_variant MELA-AU 22 37459205 37459208 deletion of <=200bp TCCC - 3_prime_UTR_variant MELA-AU 22 37459205 37459208 deletion of <=200bp TCCC - downstream_gene_variant MELA-AU 22 37459253 37459253 single base substitution G A 3_prime_UTR_variant MELA-AU 22 37459253 37459253 single base substitution G A downstream_gene_variant MELA-AU 22 37459302 37459302 single base substitution G A 3_prime_UTR_variant MELA-AU 22 37459302 37459302 single base substitution G A downstream_gene_variant MELA-AU 22 37459815 37459815 single base substitution C T downstream_gene_variant MELA-AU 22 37459816 37459816 single base substitution C T downstream_gene_variant MELA-AU 22 37460235 37460235 single base substitution C T downstream_gene_variant MELA-AU 22 37460384 37460384 single base substitution C T downstream_gene_variant MELA-AU 22 37460571 37460571 single base substitution C T downstream_gene_variant MELA-AU 22 37460687 37460687 single base substitution C T downstream_gene_variant MELA-AU 22 37460838 37460838 single base substitution C T downstream_gene_variant MELA-AU 22 37460952 37460952 single base substitution C T downstream_gene_variant MELA-AU 22 37461089 37461089 single base substitution G A downstream_gene_variant MELA-AU 22 37461103 37461103 single base substitution G A downstream_gene_variant MELA-AU 22 37461106 37461106 single base substitution G A downstream_gene_variant MELA-AU 22 37461182 37461182 single base substitution G A downstream_gene_variant MELA-AU 22 37461198 37461198 single base substitution C T downstream_gene_variant MELA-AU 22 37461214 37461214 single base substitution C T downstream_gene_variant MELA-AU 22 37461421 37461421 single base substitution C T downstream_gene_variant MELA-AU 22 37461575 37461575 single base substitution C T downstream_gene_variant MELA-AU 22 37461976 37461976 single base substitution G A downstream_gene_variant MELA-AU 22 37462118 37462118 single base substitution C T downstream_gene_variant MELA-AU 22 37462137 37462137 single base substitution G A downstream_gene_variant MELA-AU 22 37462232 37462232 single base substitution C T downstream_gene_variant MELA-AU 22 37462281 37462281 single base substitution G A downstream_gene_variant MELA-AU 22 37462294 37462294 single base substitution G A downstream_gene_variant MELA-AU 22 37462331 37462331 single base substitution C T downstream_gene_variant MELA-AU 22 37462350 37462350 single base substitution G A downstream_gene_variant MELA-AU 22 37462383 37462383 single base substitution G A downstream_gene_variant MELA-AU 22 37462587 37462587 single base substitution G T downstream_gene_variant MELA-AU 22 37462810 37462810 single base substitution G A downstream_gene_variant MELA-AU 22 37462832 37462832 single base substitution C T downstream_gene_variant MELA-AU 22 37463134 37463134 single base substitution G A downstream_gene_variant MELA-AU 22 37463142 37463142 single base substitution C T downstream_gene_variant MELA-AU 22 37463192 37463192 single base substitution T C downstream_gene_variant MELA-AU 22 37463210 37463210 single base substitution G A downstream_gene_variant MELA-AU 22 37463258 37463258 single base substitution C T downstream_gene_variant MELA-AU 22 37463482 37463482 single base substitution G A downstream_gene_variant MELA-AU 22 37463738 37463738 single base substitution G A downstream_gene_variant MELA-AU 22 37463934 37463934 single base substitution A C downstream_gene_variant MELA-AU 22 37463937 37463937 single base substitution C T downstream_gene_variant MELA-AU 22 37464154 37464154 single base substitution C T downstream_gene_variant MELA-AU 22 37464366 37464366 single base substitution A C downstream_gene_variant OV-AU 22 37443286 37443286 single base substitution G A upstream_gene_variant OV-AU 22 37446299 37446299 single base substitution A G upstream_gene_variant OV-AU 22 37447202 37447202 single base substitution C A upstream_gene_variant OV-AU 22 37451378 37451378 single base substitution C A downstream_gene_variant OV-AU 22 37451378 37451378 single base substitution C A intron_variant OV-AU 22 37451378 37451378 single base substitution C A upstream_gene_variant OV-AU 22 37455816 37455816 single base substitution T C downstream_gene_variant OV-AU 22 37455816 37455816 single base substitution T C intron_variant OV-AU 22 37458214 37458214 single base substitution C T downstream_gene_variant OV-AU 22 37458214 37458214 single base substitution C T intron_variant OV-AU 22 37459867 37459867 single base substitution C T downstream_gene_variant PACA-AU 22 37444550 37444550 single base substitution T C upstream_gene_variant PACA-AU 22 37445601 37445601 single base substitution C T upstream_gene_variant PACA-AU 22 37448681 37448681 single base substitution G A intron_variant PACA-AU 22 37448681 37448681 single base substitution G A upstream_gene_variant PACA-AU 22 37462083 37462083 single base substitution C T downstream_gene_variant PACA-CA 22 37444115 37444115 single base substitution G C upstream_gene_variant PACA-CA 22 37444767 37444767 single base substitution C T upstream_gene_variant PACA-CA 22 37450086 37450086 single base substitution T C downstream_gene_variant PACA-CA 22 37450086 37450086 single base substitution T C intron_variant PACA-CA 22 37450086 37450086 single base substitution T C upstream_gene_variant PACA-CA 22 37453039 37453039 single base substitution G C downstream_gene_variant PACA-CA 22 37453039 37453039 single base substitution G C intron_variant PACA-CA 22 37453039 37453039 single base substitution G C upstream_gene_variant PACA-CA 22 37457915 37457915 single base substitution G A downstream_gene_variant PACA-CA 22 37457915 37457915 single base substitution G A intron_variant PACA-CA 22 37458752 37458752 single base substitution G A 3_prime_UTR_variant PACA-CA 22 37458752 37458752 single base substitution G A downstream_gene_variant PACA-CA 22 37462926 37462926 single base substitution G A downstream_gene_variant PAEN-IT 22 37448178 37448178 single base substitution G T intron_variant PAEN-IT 22 37448178 37448178 single base substitution G T upstream_gene_variant PAEN-IT 22 37461433 37461433 single base substitution T G downstream_gene_variant PBCA-DE 22 37459644 37459644 single base substitution G A downstream_gene_variant PRAD-UK 22 37445575 37445575 insertion of <=200bp - T upstream_gene_variant PRAD-UK 22 37454726 37454726 single base substitution G T intron_variant PRAD-US 22 37455445 37455445 single base substitution C T downstream_gene_variant PRAD-US 22 37455445 37455445 single base substitution C T exon_variant PRAD-US 22 37455445 37455445 single base substitution C T synonymous_variant N154N 462C>T PRAD-US 22 37455445 37455445 single base substitution C T synonymous_variant N200N 600C>T SKCA-BR 22 37443437 37443437 single base substitution T C upstream_gene_variant SKCA-BR 22 37444810 37444810 single base substitution G A upstream_gene_variant SKCA-BR 22 37444960 37444960 single base substitution C A upstream_gene_variant SKCA-BR 22 37445664 37445664 single base substitution C T upstream_gene_variant SKCA-BR 22 37445668 37445668 single base substitution T C upstream_gene_variant SKCA-BR 22 37445863 37445863 single base substitution T G upstream_gene_variant SKCA-BR 22 37450480 37450480 single base substitution A G downstream_gene_variant SKCA-BR 22 37450480 37450480 single base substitution A G intron_variant SKCA-BR 22 37450480 37450480 single base substitution A G upstream_gene_variant SKCA-BR 22 37450887 37450887 single base substitution T G downstream_gene_variant SKCA-BR 22 37450887 37450887 single base substitution T G intron_variant SKCA-BR 22 37450887 37450887 single base substitution T G upstream_gene_variant SKCA-BR 22 37451264 37451264 single base substitution C T downstream_gene_variant SKCA-BR 22 37451264 37451264 single base substitution C T intron_variant SKCA-BR 22 37451264 37451264 single base substitution C T upstream_gene_variant SKCA-BR 22 37453224 37453224 single base substitution G A downstream_gene_variant SKCA-BR 22 37453224 37453224 single base substitution G A intron_variant SKCA-BR 22 37453224 37453224 single base substitution G A upstream_gene_variant SKCA-BR 22 37454119 37454119 single base substitution C T downstream_gene_variant SKCA-BR 22 37454119 37454119 single base substitution C T intron_variant SKCA-BR 22 37454205 37454205 single base substitution G A downstream_gene_variant SKCA-BR 22 37454205 37454205 single base substitution G A intron_variant SKCA-BR 22 37455031 37455031 single base substitution G A intron_variant SKCA-BR 22 37456607 37456607 single base substitution G A downstream_gene_variant SKCA-BR 22 37456607 37456607 single base substitution G A intron_variant SKCA-BR 22 37457651 37457651 single base substitution C T 3_prime_UTR_variant SKCA-BR 22 37457651 37457651 single base substitution C T downstream_gene_variant SKCA-BR 22 37457651 37457651 single base substitution C T missense_variant P269L 806C>T SKCA-BR 22 37457651 37457651 single base substitution C T missense_variant P293L 878C>T SKCA-BR 22 37457797 37457797 single base substitution C T downstream_gene_variant SKCA-BR 22 37457797 37457797 single base substitution C T intron_variant SKCA-BR 22 37458198 37458198 single base substitution C G downstream_gene_variant SKCA-BR 22 37458198 37458198 single base substitution C G intron_variant SKCA-BR 22 37458461 37458461 single base substitution A C downstream_gene_variant SKCA-BR 22 37458461 37458461 single base substitution A C intron_variant SKCA-BR 22 37458756 37458756 insertion of <=200bp - CG 3_prime_UTR_variant SKCA-BR 22 37458756 37458756 insertion of <=200bp - CG downstream_gene_variant SKCA-BR 22 37460492 37460492 single base substitution C T downstream_gene_variant SKCA-BR 22 37461018 37461018 single base substitution G A downstream_gene_variant SKCA-BR 22 37461123 37461123 single base substitution G A downstream_gene_variant SKCA-BR 22 37461947 37461947 single base substitution C T downstream_gene_variant SKCA-BR 22 37462477 37462477 single base substitution G A downstream_gene_variant SKCM-US 22 37452391 37452391 single base substitution C T downstream_gene_variant SKCM-US 22 37452391 37452391 single base substitution C T exon_variant SKCM-US 22 37452391 37452391 single base substitution C T synonymous_variant I117I 351C>T SKCM-US 22 37452391 37452391 single base substitution C T synonymous_variant I71I 213C>T SKCM-US 22 37452391 37452391 single base substitution C T upstream_gene_variant SKCM-US 22 37457582 37457582 single base substitution C T downstream_gene_variant SKCM-US 22 37457582 37457582 single base substitution C T exon_variant SKCM-US 22 37457582 37457582 single base substitution C T missense_variant P167S 499C>T SKCM-US 22 37457582 37457582 single base substitution C T missense_variant S246F 737C>T SKCM-US 22 37457582 37457582 single base substitution C T missense_variant S270F 809C>T SKCM-US 22 37457666 37457666 single base substitution C T 3_prime_UTR_variant SKCM-US 22 37457666 37457666 single base substitution C T downstream_gene_variant SKCM-US 22 37457666 37457666 single base substitution C T missense_variant P274L 821C>T SKCM-US 22 37457666 37457666 single base substitution C T missense_variant P298L 893C>T SKCM-US 22 37462263 37462263 single base substitution G A downstream_gene_variant SKCM-US 22 37462938 37462938 single base substitution C T downstream_gene_variant SKCM-US 22 37462952 37462952 single base substitution C T downstream_gene_variant STAD-US 22 37455391 37455391 single base substitution G A downstream_gene_variant STAD-US 22 37455391 37455391 single base substitution G A exon_variant STAD-US 22 37455391 37455391 single base substitution G A synonymous_variant E136E 408G>A STAD-US 22 37455391 37455391 single base substitution G A synonymous_variant E182E 546G>A STAD-US 22 37457578 37457578 single base substitution G T downstream_gene_variant STAD-US 22 37457578 37457578 single base substitution G T splice_acceptor_variant STAD-US 22 37457620 37457620 single base substitution G C downstream_gene_variant STAD-US 22 37457620 37457620 single base substitution G C missense_variant Q179H 537G>C STAD-US 22 37457620 37457620 single base substitution G C missense_variant V259L 775G>C STAD-US 22 37457620 37457620 single base substitution G C missense_variant V283L 847G>C STAD-US 22 37458585 37458585 single base substitution C G 3_prime_UTR_variant STAD-US 22 37458585 37458585 single base substitution C G downstream_gene_variant STAD-US 22 37458585 37458585 single base substitution C G missense_variant P282R 845C>G STAD-US 22 37458585 37458585 single base substitution C G missense_variant P306R 917C>G STAD-US 22 37462147 37462147 single base substitution G A downstream_gene_variant STAD-US 22 37462911 37462911 single base substitution G A downstream_gene_variant THCA-SA 22 37462926 37462926 single base substitution G A downstream_gene_variant UCEC-US 22 37452374 37452374 single base substitution G A downstream_gene_variant UCEC-US 22 37452374 37452374 single base substitution G A exon_variant UCEC-US 22 37452374 37452374 single base substitution G A missense_variant A112T 334G>A UCEC-US 22 37452374 37452374 single base substitution G A missense_variant A66T 196G>A UCEC-US 22 37452374 37452374 single base substitution G A upstream_gene_variant UCEC-US 22 37455383 37455383 single base substitution G A downstream_gene_variant UCEC-US 22 37455383 37455383 single base substitution G A exon_variant UCEC-US 22 37455383 37455383 single base substitution G A missense_variant G134S 400G>A UCEC-US 22 37455383 37455383 single base substitution G A missense_variant G180S 538G>A UCEC-US 22 37455388 37455388 single base substitution C T downstream_gene_variant UCEC-US 22 37455388 37455388 single base substitution C T exon_variant UCEC-US 22 37455388 37455388 single base substitution C T synonymous_variant S135S 405C>T UCEC-US 22 37455388 37455388 single base substitution C T synonymous_variant S181S 543C>T UCEC-US 22 37456935 37456935 single base substitution C T downstream_gene_variant UCEC-US 22 37456935 37456935 single base substitution C T exon_variant UCEC-US 22 37456935 37456935 single base substitution C T intron_variant UCEC-US 22 37456935 37456935 single base substitution C T stop_gained Q236* 706C>T UCEC-US 22 37462131 37462131 single base substitution C T downstream_gene_variant UCEC-US 22 37462136 37462136 single base substitution T C downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AC-A3W6-01 COSM3842618 c.870C>T p.L290L Substitution - coding silent 22:37061603-37061603 + CHC1725T COSM4156208 c.76G>A p.A26T Substitution - Missense 22:37051815-37051815 + CSCC-31-T COSM4572654 c.891T>G p.H297Q Substitution - Missense 22:37061624-37061624 + C135 COSM4618195 c.337G>A p.E113K Substitution - Missense 22:37056337-37056337 + PT45 COSM5927912 c.412C>T p.R138C Substitution - Missense 22:37057419-37057419 + pfg373T COSM4753005 c.380G>A p.R127Q Substitution - Missense 22:37056380-37056380 + CSCC-31-T COSM4572653 c.798T>G p.H266Q Substitution - Missense 22:37061624-37061624 + A36 COSM5065018 c.281A>G p.H94R Substitution - Missense 22:37053170-37053170 + 2492711 COSM5564279 c.343C>T p.R115C Substitution - Missense 22:37056364-37056364 + TP_2020 COSM5567667 c.616T>C p.S206P Substitution - Missense 22:37059421-37059421 + T3152 COSM4694801 c.875_876insC p.Q294fs*16 Insertion - Frameshift 22:37061608-37061609 + YUNEKI COSM5393566 c.430G>A p.E144K Substitution - Missense 22:37057437-37057437 + ATL052 COSM5707647 c.288G>A p.M96I Substitution - Missense 22:37053198-37053198 + TCGA-D1-A103-01 COSM1033927 c.517G>A p.G173S Substitution - Missense 22:37059343-37059343 + TCGA-CG-5721-01 COSM4103876 c.806-1G>T p.? Unknown 22:37061538-37061538 + 2492721 COSM5723250 c.753C>T p.P251P Substitution - coding silent 22:37061123-37061123 + LIM2551 COSM4644416 c.801C>T p.P267P Substitution - coding silent 22:37061627-37061627 + CHC892T COSM4794270 c.447C>T p.C149C Substitution - coding silent 22:37057433-37057433 + TCGA-F4-6856-01 COSM1416105 c.647_649delAGG p.E219delE Deletion - In frame 22:37060857-37060859 + RMS206 COSM5880793 c.290C>A p.A97D Substitution - Missense 22:37053200-37053200 + TCGA-FW-A3R5-06 COSM3912732 c.809C>T p.S270F Substitution - Missense 22:37061542-37061542 + TCGA-BR-8487-01 COSM4103878 c.847G>C p.V283L Substitution - Missense 22:37061580-37061580 + 587278 COSM1211684 c.199G>A p.G67R Substitution - Missense 22:37053109-37053109 + P03-871 COSM245182 c.602G>A p.R201H Substitution - Missense 22:37059428-37059428 + TCGA-A2-A0CT-01 COSM5193739 c.543C>T p.S181S Substitution - coding silent 22:37059348-37059348 + YUSWI COSM1714359 c.743C>T p.A248V Substitution - Missense 22:37061569-37061569 + T3152 COSM4694800 c.782_783insC p.Q263fs*16 Insertion - Frameshift 22:37061608-37061609 + TCGA-BP-4337-01 COSM3363631 c.602G>T p.G201V Substitution - Missense 22:37059407-37059407 + TCGA-EE-A180-06 COSM3554067 c.330C>T p.I110I Substitution - coding silent 22:37056351-37056351 + 2492714 COSM5564280 c.364C>T p.R122C Substitution - Missense 22:37056364-37056364 + 2492723 COSM5723250 c.753C>T p.P251P Substitution - coding silent 22:37061123-37061123 + RMS206 COSM5880794 c.311C>A p.A104D Substitution - Missense 22:37053200-37053200 + MedB-1 COSM5621081 c.169C>T p.L57F Substitution - Missense 22:37051908-37051908 + YUKLAB COSM1714358 c.320G>A p.G107E Substitution - Missense 22:37056320-37056320 + TCGA-23-1029-01 COSM1327241 c.825C>T p.P275P Substitution - coding silent 22:37062546-37062546 + T1209 COSM4694798 c.476G>A p.R159H Substitution - Missense 22:37057483-37057483 + TCGA-A2-A0CT-01 COSM444950 c.522C>T p.S174S Substitution - coding silent 22:37059348-37059348 + TCGA-DD-A39X-01 COSM4940770 c.471C>T p.G157G Substitution - coding silent 22:37057478-37057478 + TCGA-FP-8631-01 COSM4103873 c.525G>A p.E175E Substitution - coding silent 22:37059351-37059351 + CHC1725T COSM4156208 c.76G>A p.A26T Substitution - Missense 22:37051815-37051815 + LIM2551 COSM4644417 c.894C>T p.P298P Substitution - coding silent 22:37061627-37061627 + SC_9081 COSM5564280 c.364C>T p.R122C Substitution - Missense 22:37056364-37056364 + CHC892T COSM4794641 c.263G>A p.G88D Substitution - Missense 22:37053173-37053173 + TCGA-DD-A39X-01 COSM4940771 c.492C>T p.G164G Substitution - coding silent 22:37057478-37057478 + 2492714 COSM5564279 c.343C>T p.R115C Substitution - Missense 22:37056364-37056364 + PTC-77C COSM4156207 c.55G>A p.A19T Substitution - Missense 22:37051815-37051815 + YUKLAB COSM1714357 c.299G>A p.G100E Substitution - Missense 22:37056320-37056320 + 2492713 COSM5564280 c.364C>T p.R122C Substitution - Missense 22:37056364-37056364 + CHC1201T COSM4801673 c.336C>A p.A112A Substitution - coding silent 22:37056336-37056336 + TCGA-CG-4437-01 COSM4103880 c.917C>G p.P306R Substitution - Missense 22:37062545-37062545 + TCGA-EE-A180-06 COSM3554068 c.351C>T p.I117I Substitution - coding silent 22:37056351-37056351 + CHC1201T COSM4801673 c.336C>A p.A112A Substitution - coding silent 22:37056336-37056336 + CSCC-27-T COSM4497649 c.501C>T p.F167F Substitution - coding silent 22:37057487-37057487 + TCGA-EE-A20C-06 COSM3554070 c.893C>T p.P298L Substitution - Missense 22:37061626-37061626 + 2492721 COSM4432759 c.277C>T p.R93W Substitution - Missense 22:37053166-37053166 + SC_9081 COSM5564279 c.343C>T p.R115C Substitution - Missense 22:37056364-37056364 + TCGA-F4-6856-01 COSM5173569 c.668_670delAGG p.E226delE Deletion - In frame 22:37060857-37060859 + TCGA-B5-A11E-01 COSM444950 c.522C>T p.S174S Substitution - coding silent 22:37059348-37059348 + CHC1725T COSM4156207 c.55G>A p.A19T Substitution - Missense 22:37051815-37051815 + CHC892T COSM4794269 c.426C>T p.C142C Substitution - coding silent 22:37057433-37057433 + 2492723 COSM4432758 c.256C>T p.R86W Substitution - Missense 22:37053166-37053166 + Au8 COSM5564280 c.364C>T p.R122C Substitution - Missense 22:37056364-37056364 + 425 COSM4432759 c.277C>T p.R93W Substitution - Missense 22:37053166-37053166 + TCGA-EE-A20C-06 COSM3554069 c.800C>T p.P267L Substitution - Missense 22:37061626-37061626 + ME037T COSM227953 c.785C>T p.P262L Substitution - Missense 22:37061611-37061611 + YUNEKI COSM5393567 c.451G>A p.E151K Substitution - Missense 22:37057437-37057437 + TCGA-FP-8631-01 COSM4103874 c.546G>A p.E182E Substitution - coding silent 22:37059351-37059351 + HCC89T COSM1616426 c.734-2A>T p.? Unknown 22:37061102-37061102 + 2492712 COSM5564279 c.343C>T p.R115C Substitution - Missense 22:37056364-37056364 + T3724 COSM4694802 c.795C>T p.C265C Substitution - coding silent 22:37061621-37061621 + 2492722 COSM4432758 c.256C>T p.R86W Substitution - Missense 22:37053166-37053166 + CHC892T COSM4794270 c.447C>T p.C149C Substitution - coding silent 22:37057433-37057433 + TCGA-BG-A0VZ-01 COSM1033928 c.646C>G p.Q216E Substitution - Missense 22:37060856-37060856 + 2492722 COSM4432759 c.277C>T p.R93W Substitution - Missense 22:37053166-37053166 + CHC1725T COSM4156207 c.55G>A p.A19T Substitution - Missense 22:37051815-37051815 + STC252 COSM5057804 c.744T>C p.A248A Substitution - coding silent 22:37061570-37061570 + MedB-1 COSM5621080 c.148C>T p.L50F Substitution - Missense 22:37051908-37051908 + TCGA-BP-4337-01 COSM3363630 c.581G>T p.G194V Substitution - Missense 22:37059407-37059407 + TCGA-FW-A3R5-06 COSM3912731 c.716C>T p.S239F Substitution - Missense 22:37061542-37061542 + YUSWI COSM1714360 c.836C>T p.A279V Substitution - Missense 22:37061569-37061569 + TCGA-J9-A52C-01 COSM4877654 c.579C>T p.N193N Substitution - coding silent 22:37059405-37059405 + C135 COSM4618194 c.316G>A p.E106K Substitution - Missense 22:37056337-37056337 + PTC-6C COSM4156207 c.55G>A p.A19T Substitution - Missense 22:37051815-37051815 + TCGA-BK-A139-01 COSM1033926 c.313G>A p.A105T Substitution - Missense 22:37056334-37056334 + 2492720 COSM5723250 c.753C>T p.P251P Substitution - coding silent 22:37061123-37061123 + 2492721 COSM4432758 c.256C>T p.R86W Substitution - Missense 22:37053166-37053166 + CSCC-27-T COSM4493515 c.416C>T p.P139L Substitution - Missense 22:37057402-37057402 + TCGA-CK-5916-01 COSM5154401 c.165delG p.E57fs*26 Deletion - Frameshift 22:37051925-37051925 + CSCC-27-T COSM4497648 c.480C>T p.F160F Substitution - coding silent 22:37057487-37057487 + PT52 COSM5941088 c.811C>T p.R271C Substitution - Missense 22:37061544-37061544 + TCGA-J9-A52C-01 COSM4877655 c.600C>T p.N200N Substitution - coding silent 22:37059405-37059405 + 2492712 COSM5564280 c.364C>T p.R122C Substitution - Missense 22:37056364-37056364 + 2492720 COSM4432759 c.277C>T p.R93W Substitution - Missense 22:37053166-37053166 + A36 COSM5065017 c.260A>G p.H87R Substitution - Missense 22:37053170-37053170 + CHC892T COSM4794269 c.426C>T p.C142C Substitution - coding silent 22:37057433-37057433 + TCGA-BR-8487-01 COSM4103877 c.754G>C p.V252L Substitution - Missense 22:37061580-37061580 + TP_2020 COSM5567666 c.595T>C p.S199P Substitution - Missense 22:37059421-37059421 + 425 COSM4432758 c.256C>T p.R86W Substitution - Missense 22:37053166-37053166 + 2492720 COSM4432758 c.256C>T p.R86W Substitution - Missense 22:37053166-37053166 + PTC-14C COSM4156209 c.772C>A p.P258T Substitution - Missense 22:37061142-37061142 + PT52 COSM5941087 c.718C>T p.R240C Substitution - Missense 22:37061544-37061544 + CHC892T COSM4794642 c.284G>A p.G95D Substitution - Missense 22:37053173-37053173 + TCGA-CG-5721-01 COSM4103875 c.713-1G>T p.? Unknown 22:37061538-37061538 + PTC-77C COSM4156208 c.76G>A p.A26T Substitution - Missense 22:37051815-37051815 + CHC1201T COSM4801672 c.315C>A p.A105A Substitution - coding silent 22:37056336-37056336 + 2492713 COSM5564279 c.343C>T p.R115C Substitution - Missense 22:37056364-37056364 + pfg373T COSM4753004 c.359G>A p.R120Q Substitution - Missense 22:37056380-37056380 + STC252 COSM5057805 c.837T>C p.A279A Substitution - coding silent 22:37061570-37061570 + CSCC-27-T COSM4493514 c.395C>T p.P132L Substitution - Missense 22:37057402-37057402 + Au8 COSM5564279 c.343C>T p.R115C Substitution - Missense 22:37056364-37056364 + TCGA-D1-A103-01 COSM1033929 c.685C>T p.Q229* Substitution - Nonsense 22:37060895-37060895 + 2492711 COSM5564280 c.364C>T p.R122C Substitution - Missense 22:37056364-37056364 + PTC-6C COSM4156208 c.76G>A p.A26T Substitution - Missense 22:37051815-37051815 + 2492723 COSM4432759 c.277C>T p.R93W Substitution - Missense 22:37053166-37053166 + 2492722 COSM5723250 c.753C>T p.P251P Substitution - coding silent 22:37061123-37061123 + T1209 COSM4694799 c.497G>A p.R166H Substitution - Missense 22:37057483-37057483 + CHC892T COSM4794642 c.284G>A p.G95D Substitution - Missense 22:37053173-37053173 + TCGA-AC-A3W6-01 COSM3842617 c.777C>T p.L259L Substitution - coding silent 22:37061603-37061603 + HCC89 COSM1616426 c.734-2A>T p.? Unknown 22:37061102-37061102 + PT45 COSM5927913 c.433C>T p.R145C Substitution - Missense 22:37057419-37057419 + LUAD-CHTN-MAD06-00678 COSM360905 c.835G>T p.A279S Substitution - Missense 22:37062556-37062556 + T3724 COSM4694803 c.888C>T p.C296C Substitution - coding silent 22:37061621-37061621 + SNU-C4 COSM4653483 c.875G>A p.R292H Substitution - Missense 22:37061608-37061608 + TCGA-CG-4437-01 COSM4103879 c.824C>G p.P275R Substitution - Missense 22:37062545-37062545 + SNU-C4 COSM4653482 c.782G>A p.R261H Substitution - Missense 22:37061608-37061608 + ATL052 COSM5707648 c.309G>A p.M103I Substitution - Missense 22:37053198-37053198 + CHC892T COSM4794641 c.263G>A p.G88D Substitution - Missense 22:37053173-37053173 + CHC1201T COSM4801672 c.315C>A p.A105A Substitution - coding silent 22:37056336-37056336 + TCGA-CK-5916-01 COSM5154402 c.186delG p.E64fs*26 Deletion - Frameshift 22:37051925-37051925 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.517597 22q12.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C G Missense p.P282R c.845C>G 22 37458585 STAD C T Missense p.P269L c.806C>T 22 37457651 CM C T Missense p.P274L c.821C>T 22 37457666 CM C T Synonymous p.F85F c.255C>T 22 37449184 CM C T Synonymous p.I117I c.351C>T 22 37452391 CM C T Synonymous p.L251L c.753C>T 22 37457598 CM G A Missense p.A112T c.334G>A 22 37452374 UCEC G A Synonymous p.T155T c.465G>A 22 37453491 STAD G T Missense p.G201V c.602G>T 22 37455447 RCCC