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 1 224318184 224318184 + Missense_Mutation SNP G G C TCGA-GD-A3OQ-01A-32D-A21Z-08 TCGA-GD-A3OQ-10A-01D-A21Z-08 g.chr1:224318184G>C c.278G>C c.(277-279)aGa>aCa p.R93T BLCA 1 224321802 224321802 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr1:224321802C>T c.404C>T c.(403-405)tCa>tTa p.S135L BLCA 1 224321828 224321828 + Missense_Mutation SNP G G T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 g.chr1:224321828G>T c.430G>T c.(430-432)Gct>Tct p.A144S BLCA 1 224321837 224321837 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 g.chr1:224321837G>C c.439G>C c.(439-441)Gaa>Caa p.E147Q BLCA 1 224340961 224340961 + Missense_Mutation SNP G G C TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr1:224340961G>C c.634G>C c.(634-636)Gat>Cat p.D212H BLCA 1 224345127 224345127 + Silent SNP C C T TCGA-4Z-AA7O-01A-31D-A391-08 TCGA-4Z-AA7O-10A-01D-A394-08 g.chr1:224345127C>T c.786C>T c.(784-786)acC>acT p.T262T BLCA 1 224345239 224345239 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr1:224345239G>C c.898G>C c.(898-900)Gac>Cac p.D300H BLCA 1 224345339 224345339 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr1:224345339G>C c.998G>C c.(997-999)gGa>gCa p.G333A BLCA 1 224345445 224345445 + Missense_Mutation SNP G G C TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr1:224345445G>C c.1104G>C c.(1102-1104)aaG>aaC p.K368N BRCA 1 224301869 224301869 + Missense_Mutation SNP G G A TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 g.chr1:224301869G>A c.38G>A c.(37-39)gGa>gAa p.G13E BRCA 1 224318194 224318194 + Silent SNP G G A TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr1:224318194G>A c.288G>A c.(286-288)ttG>ttA p.L96L BRCA 1 224341019 224341019 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 g.chr1:224341019G>A c.692G>A c.(691-693)aGa>aAa p.R231K BRCA 1 224345435 224345435 + Missense_Mutation SNP G G A TCGA-D8-A1JB-01A-11D-A13L-09 TCGA-D8-A1JB-10A-01D-A13O-09 g.chr1:224345435G>A c.1094G>A c.(1093-1095)cGg>cAg p.R365Q CHOL 1 224345385 224345385 + Silent SNP A A G TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr1:224345385A>G c.1044A>G c.(1042-1044)cgA>cgG p.R348R COAD 1 224321796 224321796 + Missense_Mutation SNP A A G TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr1:224321796A>G c.398A>G c.(397-399)aAc>aGc p.N133S COAD 1 224321796 224321796 + Missense_Mutation SNP A A G TCGA-F4-6854-01A-11D-1924-10 TCGA-F4-6854-10A-01D-1924-10 g.chr1:224321796A>G c.398A>G c.(397-399)aAc>aGc p.N133S COAD 1 224345355 224345355 + Silent SNP C C T TCGA-DM-A1D0-01A-11D-A152-10 TCGA-DM-A1D0-10A-01D-A152-10 g.chr1:224345355C>T c.1014C>T c.(1012-1014)tcC>tcT p.S338S COAD 1 224345376 224345376 + Silent SNP T T C TCGA-AZ-5403-01A-01D-1650-10 TCGA-AZ-5403-10A-01D-1650-10 g.chr1:224345376T>C c.1035T>C c.(1033-1035)ccT>ccC p.P345P COADREAD 1 224321796 224321796 + Missense_Mutation SNP A A G TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr1:224321796A>G c.398A>G c.(397-399)aAc>aGc p.N133S COADREAD 1 224321796 224321796 + Missense_Mutation SNP A A G TCGA-F4-6854-01A-11D-1924-10 TCGA-F4-6854-10A-01D-1924-10 g.chr1:224321796A>G c.398A>G c.(397-399)aAc>aGc p.N133S COADREAD 1 224345355 224345355 + Silent SNP C C T TCGA-DM-A1D0-01A-11D-A152-10 TCGA-DM-A1D0-10A-01D-A152-10 g.chr1:224345355C>T c.1014C>T c.(1012-1014)tcC>tcT p.S338S COADREAD 1 224345376 224345376 + Silent SNP T T C TCGA-AZ-5403-01A-01D-1650-10 TCGA-AZ-5403-10A-01D-1650-10 g.chr1:224345376T>C c.1035T>C c.(1033-1035)ccT>ccC p.P345P ESCA 1 224345198 224345198 + Missense_Mutation SNP G G A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 g.chr1:224345198G>A c.857G>A c.(856-858)cGc>cAc p.R286H GBMLGG 1 224340896 224340896 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:224340896C>A c.569C>A c.(568-570)cCt>cAt p.P190H GBMLGG 1 224345333 224345333 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:224345333C>A c.992C>A c.(991-993)gCt>gAt p.A331D KIPAN 1 224345385 224345385 + Frame_Shift_Del DEL A A - TCGA-BP-5196-01A-01D-1429-08 TCGA-BP-5196-11A-01D-1429-08 g.chr1:224345385delA c.1044delA c.(1042-1044)cgafs p.R348fs KIRC 1 224345385 224345385 + Frame_Shift_Del DEL A A - TCGA-BP-5196-01A-01D-1429-08 TCGA-BP-5196-11A-01D-1429-08 g.chr1:224345385delA c.1044delA c.(1042-1044)cgafs p.R348fs LGG 1 224340896 224340896 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:224340896C>A c.569C>A c.(568-570)cCt>cAt p.P190H LGG 1 224345333 224345333 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:224345333C>A c.992C>A c.(991-993)gCt>gAt p.A331D LIHC 1 224340935 224340935 + Missense_Mutation SNP T T G TCGA-DD-AAD0-01A-11D-A40R-10 TCGA-DD-AAD0-10A-01D-A40U-10 g.chr1:224340935T>G c.608T>G c.(607-609)aTa>aGa p.I203R LIHC 1 224345064 224345064 + Silent SNP G G A TCGA-2Y-A9GW-01A-11D-A382-10 TCGA-2Y-A9GW-10A-01D-A385-10 g.chr1:224345064G>A c.723G>A c.(721-723)ccG>ccA p.P241P LIHC 1 224345243 224345243 + Missense_Mutation SNP A A G TCGA-CC-A8HV-01A-11D-A35Z-10 TCGA-CC-A8HV-10A-01D-A35Z-10 g.chr1:224345243A>G c.902A>G c.(901-903)cAg>cGg p.Q301R LIHC 1 224345363 224345363 + Missense_Mutation SNP A A T TCGA-DD-A4NJ-01A-11D-A27I-10 TCGA-DD-A4NJ-10A-01D-A27I-10 g.chr1:224345363A>T c.1022A>T c.(1021-1023)aAt>aTt p.N341I LIHC 1 224345442 224345442 + Frame_Shift_Del DEL A A - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr1:224345442delA c.1101delA c.(1099-1101)agafs p.R367fs LUAD 1 224302034 224302034 + Missense_Mutation SNP C C T TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chr1:224302034C>T c.203C>T c.(202-204)cCc>cTc p.P68L LUAD 1 224318265 224318265 + Missense_Mutation SNP T T G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 g.chr1:224318265T>G c.359T>G c.(358-360)gTt>gGt p.V120G LUSC 1 224345054 224345054 + Splice_Site SNP T T G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 g.chr1:224345054T>G c.713T>G c.(712-714)gTt>gGt p.V238G OV 1 224318212 224318212 + Silent SNP G G A TCGA-24-1544-01A-01W-0615-10 TCGA-24-1544-10A-01W-0615-10 g.chr1:224318212G>A c.306G>A c.(304-306)ttG>ttA p.L102L OV 1 224321795 224321795 + Missense_Mutation SNP A A T TCGA-04-1331-01A-01W-0486-08 TCGA-04-1331-10A-01W-0486-08 g.chr1:224321795A>T c.397A>T c.(397-399)Aac>Tac p.N133Y PCPG 1 224340859 224340859 + Missense_Mutation SNP T T C TCGA-SP-A6QC-01A-11D-A35I-08 TCGA-SP-A6QC-10A-01D-A35G-08 g.chr1:224340859T>C c.532T>C c.(532-534)Tat>Cat p.Y178H PRAD 1 224318220 224318220 + Missense_Mutation SNP G G A TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 g.chr1:224318220G>A c.314G>A c.(313-315)gGa>gAa p.G105E SKCM 1 224301887 224301887 + Frame_Shift_Del DEL A A - TCGA-EE-A2MU-06A-21D-A196-08 TCGA-EE-A2MU-10A-01D-A198-08 g.chr1:224301887delA c.56delA c.(55-57)gacfs p.D19fs SKCM 1 224318205 224318205 + Missense_Mutation SNP G G T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr1:224318205G>T c.299G>T c.(298-300)aGa>aTa p.R100I SKCM 1 224340893 224340893 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:224340893C>T c.566C>T c.(565-567)gCc>gTc p.A189V SKCM 1 224345107 224345107 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:224345107C>T c.766C>T c.(766-768)Cct>Tct p.P256S SKCM 1 224345206 224345206 + Missense_Mutation SNP G G T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr1:224345206G>T c.865G>T c.(865-867)Gtg>Ttg p.V289L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 1 224318184 224318184 single base substitution G C exon_variant BLCA-US 1 224318184 224318184 single base substitution G C missense_variant R93T 278G>C BLCA-US 1 224321837 224321837 single base substitution G C downstream_gene_variant BLCA-US 1 224321837 224321837 single base substitution G C exon_variant BLCA-US 1 224321837 224321837 single base substitution G C intron_variant BLCA-US 1 224321837 224321837 single base substitution G C missense_variant E147Q 439G>C BLCA-US 1 224345239 224345239 single base substitution G C 3_prime_UTR_variant BLCA-US 1 224345239 224345239 single base substitution G C missense_variant D300H 898G>C BLCA-US 1 224345339 224345339 single base substitution G C 3_prime_UTR_variant BLCA-US 1 224345339 224345339 single base substitution G C missense_variant G333A 998G>C BOCA-FR 1 224297356 224297356 single base substitution G C upstream_gene_variant BRCA-EU 1 224297938 224297938 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 224299128 224299128 single base substitution G A upstream_gene_variant BRCA-EU 1 224300402 224300402 single base substitution T C upstream_gene_variant BRCA-EU 1 224300403 224300403 single base substitution C G upstream_gene_variant BRCA-EU 1 224301046 224301046 single base substitution C T upstream_gene_variant BRCA-EU 1 224302059 224302059 single base substitution C G exon_variant BRCA-EU 1 224302059 224302059 single base substitution C G synonymous_variant L76L 228C>G BRCA-EU 1 224304517 224304517 single base substitution T G intron_variant BRCA-EU 1 224305018 224305018 single base substitution C T intron_variant BRCA-EU 1 224306326 224306330 deletion of <=200bp TCTTT - intron_variant BRCA-EU 1 224308054 224308054 single base substitution T C intron_variant BRCA-EU 1 224308797 224308797 single base substitution A C intron_variant BRCA-EU 1 224310350 224310350 single base substitution G A intron_variant BRCA-EU 1 224310748 224310748 single base substitution C T intron_variant BRCA-EU 1 224311216 224311216 single base substitution A G intron_variant BRCA-EU 1 224311281 224311281 deletion of <=200bp T - intron_variant BRCA-EU 1 224311525 224311525 single base substitution T A intron_variant BRCA-EU 1 224311833 224311833 single base substitution T C intron_variant BRCA-EU 1 224314253 224314253 single base substitution A G intron_variant BRCA-EU 1 224315263 224315263 single base substitution G C intron_variant BRCA-EU 1 224316343 224316343 single base substitution G A intron_variant BRCA-EU 1 224317211 224317211 single base substitution A G intron_variant BRCA-EU 1 224317382 224317382 single base substitution G C intron_variant BRCA-EU 1 224317491 224317491 single base substitution A G intron_variant BRCA-EU 1 224318044 224318044 deletion of <=200bp A - intron_variant BRCA-EU 1 224318230 224318230 single base substitution A T exon_variant BRCA-EU 1 224318230 224318230 single base substitution A T missense_variant K108N 324A>T BRCA-EU 1 224319002 224319003 deletion of <=200bp TC - downstream_gene_variant BRCA-EU 1 224319002 224319003 deletion of <=200bp TC - intron_variant BRCA-EU 1 224319557 224319557 single base substitution A C downstream_gene_variant BRCA-EU 1 224319557 224319557 single base substitution A C intron_variant BRCA-EU 1 224319823 224319823 single base substitution C T downstream_gene_variant BRCA-EU 1 224319823 224319823 single base substitution C T intron_variant BRCA-EU 1 224320058 224320058 single base substitution G T downstream_gene_variant BRCA-EU 1 224320058 224320058 single base substitution G T intron_variant BRCA-EU 1 224320572 224320572 single base substitution C A downstream_gene_variant BRCA-EU 1 224320572 224320572 single base substitution C A intron_variant BRCA-EU 1 224320590 224320590 single base substitution G C downstream_gene_variant BRCA-EU 1 224320590 224320590 single base substitution G C intron_variant BRCA-EU 1 224320923 224320923 single base substitution G C downstream_gene_variant BRCA-EU 1 224320923 224320923 single base substitution G C intron_variant BRCA-EU 1 224321589 224321589 single base substitution C T downstream_gene_variant BRCA-EU 1 224321589 224321589 single base substitution C T intron_variant BRCA-EU 1 224322126 224322126 single base substitution A G downstream_gene_variant BRCA-EU 1 224322126 224322126 single base substitution A G intron_variant BRCA-EU 1 224322889 224322889 single base substitution G T downstream_gene_variant BRCA-EU 1 224322889 224322889 single base substitution G T intron_variant BRCA-EU 1 224323327 224323327 insertion of <=200bp - AG downstream_gene_variant BRCA-EU 1 224323327 224323327 insertion of <=200bp - AG intron_variant BRCA-EU 1 224324472 224324472 single base substitution G C downstream_gene_variant BRCA-EU 1 224324472 224324472 single base substitution G C intron_variant BRCA-EU 1 224324643 224324643 single base substitution G T downstream_gene_variant BRCA-EU 1 224324643 224324643 single base substitution G T intron_variant BRCA-EU 1 224324804 224324804 single base substitution A T downstream_gene_variant BRCA-EU 1 224324804 224324804 single base substitution A T intron_variant BRCA-EU 1 224324928 224324928 single base substitution T G downstream_gene_variant BRCA-EU 1 224324928 224324928 single base substitution T G intron_variant BRCA-EU 1 224325179 224325179 single base substitution C A downstream_gene_variant BRCA-EU 1 224325179 224325179 single base substitution C A intron_variant BRCA-EU 1 224325227 224325227 insertion of <=200bp - A downstream_gene_variant BRCA-EU 1 224325227 224325227 insertion of <=200bp - A intron_variant BRCA-EU 1 224325582 224325582 single base substitution T G downstream_gene_variant BRCA-EU 1 224325582 224325582 single base substitution T G intron_variant BRCA-EU 1 224325930 224325930 insertion of <=200bp - A downstream_gene_variant BRCA-EU 1 224325930 224325930 insertion of <=200bp - A intron_variant BRCA-EU 1 224326046 224326046 single base substitution C G downstream_gene_variant BRCA-EU 1 224326046 224326046 single base substitution C G intron_variant BRCA-EU 1 224327124 224327124 single base substitution C T intron_variant BRCA-EU 1 224328069 224328069 single base substitution G C intron_variant BRCA-EU 1 224328213 224328213 single base substitution T G intron_variant BRCA-EU 1 224328331 224328331 single base substitution A G intron_variant BRCA-EU 1 224328585 224328585 single base substitution T C intron_variant BRCA-EU 1 224328792 224328792 single base substitution G C intron_variant BRCA-EU 1 224329189 224329189 deletion of <=200bp G - intron_variant BRCA-EU 1 224329848 224329848 single base substitution G C intron_variant BRCA-EU 1 224330861 224330861 single base substitution C T intron_variant BRCA-EU 1 224331068 224331088 deletion of <=200bp GGTTCATTGACATGTCTTAGT - intron_variant BRCA-EU 1 224331217 224331217 single base substitution A G intron_variant BRCA-EU 1 224333022 224333022 single base substitution T A intron_variant BRCA-EU 1 224333274 224333274 single base substitution C A intron_variant BRCA-EU 1 224335132 224335132 insertion of <=200bp - T intron_variant BRCA-EU 1 224335757 224335757 single base substitution G C intron_variant BRCA-EU 1 224336197 224336197 deletion of <=200bp A - intron_variant BRCA-EU 1 224336233 224336233 single base substitution G A intron_variant BRCA-EU 1 224336493 224336493 single base substitution C G intron_variant BRCA-EU 1 224337125 224337125 single base substitution C G intron_variant BRCA-EU 1 224337458 224337458 single base substitution G A intron_variant BRCA-EU 1 224339731 224339731 single base substitution G C intron_variant BRCA-EU 1 224339791 224339791 insertion of <=200bp - G intron_variant BRCA-EU 1 224339816 224339816 single base substitution G A intron_variant BRCA-EU 1 224339990 224339990 single base substitution G C intron_variant BRCA-EU 1 224340910 224340910 single base substitution G T 3_prime_UTR_variant BRCA-EU 1 224340910 224340910 single base substitution G T intron_variant BRCA-EU 1 224340910 224340910 single base substitution G T stop_gained E195* 583G>T BRCA-EU 1 224341073 224341073 deletion of <=200bp T - intron_variant BRCA-EU 1 224341407 224341407 single base substitution G A intron_variant BRCA-EU 1 224341413 224341413 single base substitution G A intron_variant BRCA-EU 1 224342338 224342338 single base substitution G A intron_variant BRCA-EU 1 224342343 224342343 single base substitution T C intron_variant BRCA-EU 1 224343376 224343376 single base substitution G A intron_variant BRCA-EU 1 224344386 224344386 single base substitution G C intron_variant BRCA-EU 1 224347113 224347113 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 224347113 224347113 single base substitution G A downstream_gene_variant BRCA-EU 1 224347459 224347459 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 224347459 224347459 single base substitution G A downstream_gene_variant BRCA-EU 1 224347697 224347697 single base substitution A G 3_prime_UTR_variant BRCA-EU 1 224347697 224347697 single base substitution A G downstream_gene_variant BRCA-EU 1 224348097 224348097 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 224348097 224348097 single base substitution C T downstream_gene_variant BRCA-EU 1 224348530 224348530 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 1 224348530 224348530 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 224349287 224349287 single base substitution T G 3_prime_UTR_variant BRCA-EU 1 224349287 224349287 single base substitution T G downstream_gene_variant BRCA-EU 1 224350365 224350365 single base substitution G A downstream_gene_variant BRCA-EU 1 224350906 224350906 single base substitution G C downstream_gene_variant BRCA-EU 1 224350947 224350947 single base substitution C T downstream_gene_variant BRCA-EU 1 224351078 224351078 single base substitution C T downstream_gene_variant BRCA-EU 1 224351543 224351543 single base substitution G C downstream_gene_variant BRCA-EU 1 224351731 224351731 single base substitution C T downstream_gene_variant BRCA-EU 1 224352392 224352392 single base substitution G A downstream_gene_variant BRCA-EU 1 224353663 224353663 single base substitution G T downstream_gene_variant BRCA-EU 1 224353848 224353848 single base substitution G A downstream_gene_variant BRCA-FR 1 224300294 224300294 single base substitution C T upstream_gene_variant BRCA-FR 1 224313137 224313137 single base substitution A G intron_variant BRCA-FR 1 224316343 224316343 single base substitution G A intron_variant BRCA-FR 1 224319607 224319607 single base substitution G A downstream_gene_variant BRCA-FR 1 224319607 224319607 single base substitution G A intron_variant BRCA-FR 1 224324928 224324928 single base substitution T G downstream_gene_variant BRCA-FR 1 224324928 224324928 single base substitution T G intron_variant BRCA-FR 1 224325582 224325582 single base substitution T G downstream_gene_variant BRCA-FR 1 224325582 224325582 single base substitution T G intron_variant BRCA-FR 1 224335757 224335757 single base substitution G C intron_variant BRCA-FR 1 224336233 224336233 single base substitution G A intron_variant BRCA-FR 1 224336493 224336493 single base substitution C G intron_variant BRCA-FR 1 224337372 224337372 single base substitution G A intron_variant BRCA-FR 1 224337458 224337458 single base substitution G A intron_variant BRCA-FR 1 224339731 224339731 single base substitution G C intron_variant BRCA-FR 1 224339990 224339990 single base substitution G C intron_variant BRCA-FR 1 224350906 224350906 single base substitution G C downstream_gene_variant BRCA-UK 1 224317491 224317491 single base substitution A G intron_variant BRCA-UK 1 224327353 224327353 single base substitution G A intron_variant BRCA-UK 1 224336007 224336007 single base substitution G T intron_variant BRCA-UK 1 224351543 224351543 single base substitution G C downstream_gene_variant BRCA-US 1 224301869 224301869 single base substitution G A exon_variant BRCA-US 1 224301869 224301869 single base substitution G A missense_variant G13E 38G>A BRCA-US 1 224301869 224301869 single base substitution G A upstream_gene_variant BRCA-US 1 224318194 224318194 single base substitution G A exon_variant BRCA-US 1 224318194 224318194 single base substitution G A synonymous_variant L96L 288G>A BRCA-US 1 224341019 224341019 single base substitution G A 3_prime_UTR_variant BRCA-US 1 224341019 224341019 single base substitution G A intron_variant BRCA-US 1 224341019 224341019 single base substitution G A missense_variant R231K 692G>A BRCA-US 1 224345435 224345435 single base substitution G A 3_prime_UTR_variant BRCA-US 1 224345435 224345435 single base substitution G A missense_variant R365Q 1094G>A BTCA-JP 1 224318307 224318307 single base substitution A G exon_variant BTCA-JP 1 224318307 224318307 single base substitution A G intron_variant BTCA-JP 1 224340901 224340901 single base substitution C T 3_prime_UTR_variant BTCA-JP 1 224340901 224340901 single base substitution C T intron_variant BTCA-JP 1 224340901 224340901 single base substitution C T stop_gained R192* 574C>T CLLE-ES 1 224323185 224323185 single base substitution G C downstream_gene_variant CLLE-ES 1 224323185 224323185 single base substitution G C intron_variant CLLE-ES 1 224345428 224345428 single base substitution C T 3_prime_UTR_variant CLLE-ES 1 224345428 224345428 single base substitution C T missense_variant R363C 1087C>T CLLE-ES 1 224350778 224350778 single base substitution A G downstream_gene_variant COAD-US 1 224321829 224321829 single base substitution C T downstream_gene_variant COAD-US 1 224321829 224321829 single base substitution C T exon_variant COAD-US 1 224321829 224321829 single base substitution C T intron_variant COAD-US 1 224321829 224321829 single base substitution C T missense_variant A144V 431C>T COAD-US 1 224345355 224345355 single base substitution C T 3_prime_UTR_variant COAD-US 1 224345355 224345355 single base substitution C T synonymous_variant S338S 1014C>T COCA-CN 1 224302230 224302230 single base substitution C G intron_variant COCA-CN 1 224345187 224345187 single base substitution T A 3_prime_UTR_variant COCA-CN 1 224345187 224345187 single base substitution T A synonymous_variant I282I 846T>A EOPC-DE 1 224299368 224299368 single base substitution C A upstream_gene_variant EOPC-DE 1 224326456 224326456 single base substitution T A downstream_gene_variant EOPC-DE 1 224326456 224326456 single base substitution T A intron_variant EOPC-DE 1 224344730 224344730 single base substitution T C intron_variant ESAD-UK 1 224297350 224297350 single base substitution A G upstream_gene_variant ESAD-UK 1 224302262 224302262 single base substitution C A intron_variant ESAD-UK 1 224305031 224305031 single base substitution G A intron_variant ESAD-UK 1 224308976 224308976 single base substitution G C intron_variant ESAD-UK 1 224310312 224310312 single base substitution C A intron_variant ESAD-UK 1 224311657 224311657 deletion of <=200bp A - intron_variant ESAD-UK 1 224315224 224315224 single base substitution T G intron_variant ESAD-UK 1 224320711 224320711 single base substitution G C downstream_gene_variant ESAD-UK 1 224320711 224320711 single base substitution G C intron_variant ESAD-UK 1 224322452 224322452 single base substitution A G downstream_gene_variant ESAD-UK 1 224322452 224322452 single base substitution A G intron_variant ESAD-UK 1 224324201 224324201 single base substitution G A downstream_gene_variant ESAD-UK 1 224324201 224324201 single base substitution G A intron_variant ESAD-UK 1 224325481 224325481 single base substitution G A downstream_gene_variant ESAD-UK 1 224325481 224325481 single base substitution G A intron_variant ESAD-UK 1 224328087 224328087 single base substitution G A intron_variant ESAD-UK 1 224328913 224328913 single base substitution G A intron_variant ESAD-UK 1 224329449 224329449 single base substitution A T intron_variant ESAD-UK 1 224331068 224331068 single base substitution G A intron_variant ESAD-UK 1 224332246 224332246 single base substitution G A intron_variant ESAD-UK 1 224333671 224333671 single base substitution G T intron_variant ESAD-UK 1 224334196 224334196 single base substitution G A intron_variant ESAD-UK 1 224335259 224335259 single base substitution G A intron_variant ESAD-UK 1 224339454 224339454 single base substitution G T intron_variant ESAD-UK 1 224340701 224340715 deletion of <=200bp CATCAGTGGCCAGTA - intron_variant ESAD-UK 1 224340863 224340863 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 224340863 224340863 single base substitution G A intron_variant ESAD-UK 1 224340863 224340863 single base substitution G A missense_variant R179H 536G>A ESAD-UK 1 224342856 224342856 single base substitution C A intron_variant ESAD-UK 1 224346803 224346803 single base substitution A G 3_prime_UTR_variant ESAD-UK 1 224346803 224346803 single base substitution A G downstream_gene_variant ESAD-UK 1 224349947 224349947 single base substitution G A downstream_gene_variant ESAD-UK 1 224353402 224353402 single base substitution G A downstream_gene_variant KIRC-US 1 224345385 224345385 deletion of <=200bp A - 3_prime_UTR_variant KIRC-US 1 224345385 224345385 deletion of <=200bp A - frameshift_variant R348 KIRP-US 1 224302059 224302059 single base substitution C G exon_variant KIRP-US 1 224302059 224302059 single base substitution C G synonymous_variant L76L 228C>G LAML-KR 1 224304887 224304887 single base substitution G T intron_variant LICA-CN 1 224345148 224345148 single base substitution A T 3_prime_UTR_variant LICA-CN 1 224345148 224345148 single base substitution A T missense_variant K269N 807A>T LICA-FR 1 224299347 224299347 single base substitution A G upstream_gene_variant LICA-FR 1 224301843 224301843 single base substitution G T exon_variant LICA-FR 1 224301843 224301843 single base substitution G T synonymous_variant A4A 12G>T LICA-FR 1 224301843 224301843 single base substitution G T upstream_gene_variant LICA-FR 1 224305995 224305995 single base substitution A G intron_variant LICA-FR 1 224308582 224308582 single base substitution G A intron_variant LICA-FR 1 224311145 224311145 insertion of <=200bp - A intron_variant LICA-FR 1 224314877 224314886 deletion of <=200bp TGTGTGTGTA - intron_variant LICA-FR 1 224318274 224318274 single base substitution A G exon_variant LICA-FR 1 224318274 224318274 single base substitution A G missense_variant Q123R 368A>G LICA-FR 1 224327455 224327455 insertion of <=200bp - CATGCATGCATGCATG intron_variant LICA-FR 1 224330761 224330761 insertion of <=200bp - CAAC intron_variant LICA-FR 1 224338877 224338877 single base substitution C T intron_variant LICA-FR 1 224344425 224344425 single base substitution G A intron_variant LICA-FR 1 224353859 224353860 deletion of <=200bp AA - downstream_gene_variant LIHC-US 1 224345363 224345363 single base substitution A T 3_prime_UTR_variant LIHC-US 1 224345363 224345363 single base substitution A T missense_variant N341I 1022A>T LINC-JP 1 224301749 224301749 single base substitution C T upstream_gene_variant LINC-JP 1 224301807 224301807 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 1 224301807 224301807 single base substitution G T upstream_gene_variant LINC-JP 1 224321932 224321932 single base substitution G T downstream_gene_variant LINC-JP 1 224321932 224321932 single base substitution G T exon_variant LINC-JP 1 224321932 224321932 single base substitution G T intron_variant LINC-JP 1 224323824 224323824 single base substitution G T downstream_gene_variant LINC-JP 1 224323824 224323824 single base substitution G T intron_variant LINC-JP 1 224328400 224328400 single base substitution A G intron_variant LIRI-JP 1 224297322 224297322 single base substitution A G upstream_gene_variant LIRI-JP 1 224297598 224297598 single base substitution A G upstream_gene_variant LIRI-JP 1 224298496 224298496 single base substitution G T upstream_gene_variant LIRI-JP 1 224299026 224299026 single base substitution A C upstream_gene_variant LIRI-JP 1 224299072 224299072 single base substitution A T upstream_gene_variant LIRI-JP 1 224299590 224299590 single base substitution C A upstream_gene_variant LIRI-JP 1 224301506 224301506 single base substitution G A upstream_gene_variant LIRI-JP 1 224303210 224303210 single base substitution C T intron_variant LIRI-JP 1 224305262 224305262 single base substitution T A intron_variant LIRI-JP 1 224306886 224306886 single base substitution A T intron_variant LIRI-JP 1 224309237 224309237 single base substitution G T intron_variant LIRI-JP 1 224309359 224309359 single base substitution A G intron_variant LIRI-JP 1 224311262 224311262 single base substitution A G intron_variant LIRI-JP 1 224311969 224311969 single base substitution C T intron_variant LIRI-JP 1 224313801 224313801 single base substitution A T intron_variant LIRI-JP 1 224314141 224314141 single base substitution A G intron_variant LIRI-JP 1 224314739 224314739 single base substitution A G intron_variant LIRI-JP 1 224315627 224315627 single base substitution A T intron_variant LIRI-JP 1 224316268 224316268 single base substitution T C intron_variant LIRI-JP 1 224318160 224318160 single base substitution T C intron_variant LIRI-JP 1 224320962 224320962 single base substitution A G downstream_gene_variant LIRI-JP 1 224320962 224320962 single base substitution A G intron_variant LIRI-JP 1 224322656 224322656 single base substitution C T downstream_gene_variant LIRI-JP 1 224322656 224322656 single base substitution C T intron_variant LIRI-JP 1 224323005 224323005 single base substitution A G downstream_gene_variant LIRI-JP 1 224323005 224323005 single base substitution A G intron_variant LIRI-JP 1 224325114 224325114 single base substitution A G downstream_gene_variant LIRI-JP 1 224325114 224325114 single base substitution A G intron_variant LIRI-JP 1 224327616 224327616 single base substitution A T intron_variant LIRI-JP 1 224328584 224328584 single base substitution G A intron_variant LIRI-JP 1 224329268 224329268 single base substitution A G intron_variant LIRI-JP 1 224330914 224330914 single base substitution C G intron_variant LIRI-JP 1 224331303 224331303 single base substitution G C intron_variant LIRI-JP 1 224331762 224331762 single base substitution A G intron_variant LIRI-JP 1 224332310 224332310 single base substitution A G intron_variant LIRI-JP 1 224332331 224332331 single base substitution G T intron_variant LIRI-JP 1 224333263 224333263 single base substitution A T intron_variant LIRI-JP 1 224334996 224334996 single base substitution G A intron_variant LIRI-JP 1 224335887 224335887 single base substitution A C intron_variant LIRI-JP 1 224336491 224336491 single base substitution C T intron_variant LIRI-JP 1 224337800 224337800 single base substitution C G intron_variant LIRI-JP 1 224338876 224338876 single base substitution C T intron_variant LIRI-JP 1 224338942 224338942 single base substitution C T intron_variant LIRI-JP 1 224346271 224346271 single base substitution C T 3_prime_UTR_variant LIRI-JP 1 224346271 224346271 single base substitution C T downstream_gene_variant LIRI-JP 1 224347670 224347670 single base substitution A G 3_prime_UTR_variant LIRI-JP 1 224347670 224347670 single base substitution A G downstream_gene_variant LIRI-JP 1 224347900 224347900 single base substitution C T 3_prime_UTR_variant LIRI-JP 1 224347900 224347900 single base substitution C T downstream_gene_variant LIRI-JP 1 224348218 224348218 single base substitution A T 3_prime_UTR_variant LIRI-JP 1 224348218 224348218 single base substitution A T downstream_gene_variant LIRI-JP 1 224351154 224351154 single base substitution C G downstream_gene_variant LIRI-JP 1 224351489 224351489 single base substitution A T downstream_gene_variant LIRI-JP 1 224353047 224353047 single base substitution C A downstream_gene_variant LUSC-KR 1 224302552 224302552 single base substitution G T intron_variant LUSC-KR 1 224303999 224303999 single base substitution G C intron_variant LUSC-KR 1 224306276 224306276 single base substitution A G intron_variant LUSC-KR 1 224318031 224318031 single base substitution G C intron_variant LUSC-KR 1 224327470 224327470 single base substitution A G intron_variant LUSC-KR 1 224327474 224327474 single base substitution A G intron_variant LUSC-KR 1 224327478 224327478 single base substitution A G intron_variant LUSC-KR 1 224328309 224328309 single base substitution G A intron_variant LUSC-KR 1 224331452 224331452 single base substitution A G intron_variant LUSC-KR 1 224335230 224335230 single base substitution G A intron_variant LUSC-KR 1 224337660 224337660 single base substitution A T intron_variant LUSC-KR 1 224340054 224340054 single base substitution G A intron_variant LUSC-KR 1 224350588 224350588 single base substitution G A downstream_gene_variant LUSC-KR 1 224351768 224351768 single base substitution G A downstream_gene_variant LUSC-US 1 224345054 224345054 single base substitution T G missense_variant F173V 517T>G LUSC-US 1 224345054 224345054 single base substitution T G missense_variant V238G 713T>G LUSC-US 1 224345054 224345054 single base substitution T G splice_region_variant MALY-DE 1 224298729 224298729 single base substitution T C upstream_gene_variant MALY-DE 1 224300751 224300751 single base substitution A G upstream_gene_variant MALY-DE 1 224301753 224301753 single base substitution C A upstream_gene_variant MALY-DE 1 224307238 224307238 single base substitution G A intron_variant MALY-DE 1 224319049 224319049 single base substitution G A downstream_gene_variant MALY-DE 1 224319049 224319049 single base substitution G A intron_variant MALY-DE 1 224332950 224332950 single base substitution C G intron_variant MALY-DE 1 224340724 224340724 single base substitution A C intron_variant MALY-DE 1 224340757 224340757 single base substitution A T intron_variant MALY-DE 1 224343456 224343456 single base substitution A C intron_variant MALY-DE 1 224343969 224343969 single base substitution A G intron_variant MALY-DE 1 224344771 224344771 single base substitution T A intron_variant MALY-DE 1 224353045 224353045 single base substitution C T downstream_gene_variant MALY-DE 1 224353163 224353163 single base substitution G T downstream_gene_variant MELA-AU 1 224296789 224296789 single base substitution C T upstream_gene_variant MELA-AU 1 224296831 224296831 single base substitution G A upstream_gene_variant MELA-AU 1 224296962 224296962 single base substitution G A upstream_gene_variant MELA-AU 1 224297087 224297087 single base substitution C T upstream_gene_variant MELA-AU 1 224297094 224297094 single base substitution G A upstream_gene_variant MELA-AU 1 224297377 224297377 single base substitution C T upstream_gene_variant MELA-AU 1 224297575 224297575 single base substitution G A upstream_gene_variant MELA-AU 1 224297606 224297606 single base substitution C T upstream_gene_variant MELA-AU 1 224297737 224297737 single base substitution T C upstream_gene_variant MELA-AU 1 224297742 224297742 single base substitution G A upstream_gene_variant MELA-AU 1 224298096 224298096 single base substitution T A upstream_gene_variant MELA-AU 1 224298102 224298102 single base substitution A C upstream_gene_variant MELA-AU 1 224298292 224298292 single base substitution G A upstream_gene_variant MELA-AU 1 224298370 224298370 single base substitution G A upstream_gene_variant MELA-AU 1 224298712 224298712 single base substitution C T upstream_gene_variant MELA-AU 1 224298733 224298733 single base substitution G A upstream_gene_variant MELA-AU 1 224298886 224298887 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 224299107 224299107 single base substitution G A upstream_gene_variant MELA-AU 1 224299140 224299140 single base substitution C T upstream_gene_variant MELA-AU 1 224299528 224299528 single base substitution C T upstream_gene_variant MELA-AU 1 224299888 224299888 single base substitution G A upstream_gene_variant MELA-AU 1 224299946 224299946 single base substitution C T upstream_gene_variant MELA-AU 1 224299962 224299962 single base substitution C T upstream_gene_variant MELA-AU 1 224300207 224300207 single base substitution C T upstream_gene_variant MELA-AU 1 224300287 224300287 single base substitution T C upstream_gene_variant MELA-AU 1 224300493 224300493 single base substitution G A upstream_gene_variant MELA-AU 1 224300642 224300642 single base substitution C T upstream_gene_variant MELA-AU 1 224301243 224301243 single base substitution C T upstream_gene_variant MELA-AU 1 224301246 224301246 single base substitution C T upstream_gene_variant MELA-AU 1 224301762 224301762 single base substitution G A upstream_gene_variant MELA-AU 1 224301820 224301820 single base substitution C T 5_prime_UTR_variant MELA-AU 1 224301820 224301820 single base substitution C T upstream_gene_variant MELA-AU 1 224302850 224302850 single base substitution C T intron_variant MELA-AU 1 224303821 224303822 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 224304910 224304910 single base substitution C T intron_variant MELA-AU 1 224304995 224304995 single base substitution G A intron_variant MELA-AU 1 224305799 224305799 single base substitution C T intron_variant MELA-AU 1 224305973 224305973 single base substitution T A intron_variant MELA-AU 1 224306540 224306540 single base substitution C T intron_variant MELA-AU 1 224306552 224306552 single base substitution C T intron_variant MELA-AU 1 224306751 224306751 single base substitution C T intron_variant MELA-AU 1 224307048 224307048 single base substitution C T intron_variant MELA-AU 1 224307245 224307245 single base substitution C T intron_variant MELA-AU 1 224307459 224307459 single base substitution A G intron_variant MELA-AU 1 224308117 224308117 single base substitution C T intron_variant MELA-AU 1 224308514 224308514 single base substitution G A intron_variant MELA-AU 1 224309134 224309134 single base substitution C T intron_variant MELA-AU 1 224309440 224309440 single base substitution C T intron_variant MELA-AU 1 224310013 224310013 single base substitution A G intron_variant MELA-AU 1 224310036 224310036 single base substitution C T intron_variant MELA-AU 1 224311326 224311326 single base substitution A T intron_variant MELA-AU 1 224311942 224311942 single base substitution C A intron_variant MELA-AU 1 224312148 224312148 single base substitution G A intron_variant MELA-AU 1 224313240 224313240 single base substitution C T intron_variant MELA-AU 1 224313284 224313284 single base substitution C T intron_variant MELA-AU 1 224313285 224313285 single base substitution C T intron_variant MELA-AU 1 224313304 224313304 single base substitution T C intron_variant MELA-AU 1 224313385 224313385 single base substitution C T intron_variant MELA-AU 1 224313530 224313530 single base substitution C T intron_variant MELA-AU 1 224313842 224313842 single base substitution C T intron_variant MELA-AU 1 224314426 224314426 single base substitution C T intron_variant MELA-AU 1 224314495 224314495 single base substitution G A intron_variant MELA-AU 1 224315864 224315864 single base substitution C T intron_variant MELA-AU 1 224315947 224315947 single base substitution A T intron_variant MELA-AU 1 224316236 224316236 single base substitution C T intron_variant MELA-AU 1 224316274 224316274 single base substitution C T intron_variant MELA-AU 1 224316599 224316599 single base substitution G A intron_variant MELA-AU 1 224316797 224316797 single base substitution C A intron_variant MELA-AU 1 224316965 224316965 single base substitution C T intron_variant MELA-AU 1 224317440 224317440 single base substitution C T intron_variant MELA-AU 1 224318513 224318513 single base substitution C T exon_variant MELA-AU 1 224318513 224318513 single base substitution C T intron_variant MELA-AU 1 224319004 224319004 single base substitution C T downstream_gene_variant MELA-AU 1 224319004 224319004 single base substitution C T intron_variant MELA-AU 1 224319096 224319096 single base substitution G C downstream_gene_variant MELA-AU 1 224319096 224319096 single base substitution G C intron_variant MELA-AU 1 224319908 224319908 single base substitution C T downstream_gene_variant MELA-AU 1 224319908 224319908 single base substitution C T intron_variant MELA-AU 1 224321340 224321340 single base substitution C T downstream_gene_variant MELA-AU 1 224321340 224321340 single base substitution C T intron_variant MELA-AU 1 224321501 224321501 single base substitution C T downstream_gene_variant MELA-AU 1 224321501 224321501 single base substitution C T intron_variant MELA-AU 1 224323082 224323082 single base substitution G C downstream_gene_variant MELA-AU 1 224323082 224323082 single base substitution G C intron_variant MELA-AU 1 224323510 224323511 multiple base substitution (>=2bp and <=200bp) GG AC downstream_gene_variant MELA-AU 1 224323510 224323511 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 1 224323893 224323893 single base substitution C T downstream_gene_variant MELA-AU 1 224323893 224323893 single base substitution C T intron_variant MELA-AU 1 224323958 224323958 single base substitution T C downstream_gene_variant MELA-AU 1 224323958 224323958 single base substitution T C intron_variant MELA-AU 1 224324718 224324718 single base substitution T G downstream_gene_variant MELA-AU 1 224324718 224324718 single base substitution T G intron_variant MELA-AU 1 224325595 224325595 single base substitution G A downstream_gene_variant MELA-AU 1 224325595 224325595 single base substitution G A intron_variant MELA-AU 1 224325605 224325605 single base substitution G A downstream_gene_variant MELA-AU 1 224325605 224325605 single base substitution G A intron_variant MELA-AU 1 224325867 224325867 single base substitution T C downstream_gene_variant MELA-AU 1 224325867 224325867 single base substitution T C intron_variant MELA-AU 1 224326860 224326860 single base substitution A T downstream_gene_variant MELA-AU 1 224326860 224326860 single base substitution A T intron_variant MELA-AU 1 224327296 224327296 single base substitution T A intron_variant MELA-AU 1 224328096 224328096 single base substitution C T intron_variant MELA-AU 1 224328201 224328201 deletion of <=200bp T - intron_variant MELA-AU 1 224328273 224328273 single base substitution C A intron_variant MELA-AU 1 224328273 224328273 single base substitution C T intron_variant MELA-AU 1 224328571 224328571 single base substitution C T intron_variant MELA-AU 1 224330280 224330280 single base substitution G A intron_variant MELA-AU 1 224331039 224331039 single base substitution C T intron_variant MELA-AU 1 224332257 224332257 single base substitution C T intron_variant MELA-AU 1 224332430 224332430 single base substitution C T intron_variant MELA-AU 1 224333280 224333280 single base substitution C T intron_variant MELA-AU 1 224334052 224334052 single base substitution C T intron_variant MELA-AU 1 224334689 224334689 single base substitution T G intron_variant MELA-AU 1 224335451 224335451 single base substitution A G intron_variant MELA-AU 1 224335720 224335760 deletion of <=200bp AAGAAAAGAAACTATTTTGAATTTTATTGAAAACATAGATT - intron_variant MELA-AU 1 224336337 224336337 single base substitution C T intron_variant MELA-AU 1 224336396 224336396 single base substitution C T intron_variant MELA-AU 1 224336566 224336566 single base substitution A T intron_variant MELA-AU 1 224337227 224337227 single base substitution A C intron_variant MELA-AU 1 224338547 224338547 single base substitution C T intron_variant MELA-AU 1 224338760 224338760 single base substitution C T intron_variant MELA-AU 1 224339032 224339032 single base substitution C T intron_variant MELA-AU 1 224339480 224339480 single base substitution C T intron_variant MELA-AU 1 224340136 224340136 single base substitution C T intron_variant MELA-AU 1 224340786 224340786 single base substitution C T intron_variant MELA-AU 1 224340830 224340830 single base substitution A G intron_variant MELA-AU 1 224340833 224340833 single base substitution C T intron_variant MELA-AU 1 224341058 224341058 single base substitution C T intron_variant MELA-AU 1 224341506 224341506 single base substitution C T intron_variant MELA-AU 1 224342259 224342259 single base substitution C T intron_variant MELA-AU 1 224342365 224342365 single base substitution C T intron_variant MELA-AU 1 224342696 224342696 single base substitution C T intron_variant MELA-AU 1 224342838 224342838 single base substitution C T intron_variant MELA-AU 1 224342966 224342966 single base substitution C T intron_variant MELA-AU 1 224342991 224342991 single base substitution C T intron_variant MELA-AU 1 224343373 224343373 single base substitution T C intron_variant MELA-AU 1 224343918 224343918 single base substitution C T intron_variant MELA-AU 1 224343934 224343934 single base substitution T C intron_variant MELA-AU 1 224344178 224344178 single base substitution C T intron_variant MELA-AU 1 224344507 224344507 single base substitution C T intron_variant MELA-AU 1 224344823 224344823 single base substitution C T intron_variant MELA-AU 1 224345030 224345030 single base substitution C T intron_variant MELA-AU 1 224345379 224345379 single base substitution G A 3_prime_UTR_variant MELA-AU 1 224345379 224345379 single base substitution G A synonymous_variant R346R 1038G>A MELA-AU 1 224345612 224345612 single base substitution C T 3_prime_UTR_variant MELA-AU 1 224346282 224346282 single base substitution C T 3_prime_UTR_variant MELA-AU 1 224346282 224346282 single base substitution C T downstream_gene_variant MELA-AU 1 224346404 224346405 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 1 224346404 224346405 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 224346559 224346559 single base substitution C T 3_prime_UTR_variant MELA-AU 1 224346559 224346559 single base substitution C T downstream_gene_variant MELA-AU 1 224346612 224346612 single base substitution C T 3_prime_UTR_variant MELA-AU 1 224346612 224346612 single base substitution C T downstream_gene_variant MELA-AU 1 224346667 224346667 single base substitution G A 3_prime_UTR_variant MELA-AU 1 224346667 224346667 single base substitution G A downstream_gene_variant MELA-AU 1 224346756 224346756 single base substitution C T 3_prime_UTR_variant MELA-AU 1 224346756 224346756 single base substitution C T downstream_gene_variant MELA-AU 1 224346845 224346845 single base substitution C T 3_prime_UTR_variant MELA-AU 1 224346845 224346845 single base substitution C T downstream_gene_variant MELA-AU 1 224348160 224348160 single base substitution G A 3_prime_UTR_variant MELA-AU 1 224348160 224348160 single base substitution G A downstream_gene_variant MELA-AU 1 224348764 224348765 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 1 224348764 224348765 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 224349325 224349325 single base substitution C T 3_prime_UTR_variant MELA-AU 1 224349325 224349325 single base substitution C T downstream_gene_variant MELA-AU 1 224349569 224349569 single base substitution A T 3_prime_UTR_variant MELA-AU 1 224349569 224349569 single base substitution A T downstream_gene_variant MELA-AU 1 224349672 224349672 single base substitution C T 3_prime_UTR_variant MELA-AU 1 224349672 224349672 single base substitution C T downstream_gene_variant MELA-AU 1 224349927 224349927 single base substitution C T downstream_gene_variant MELA-AU 1 224350212 224350212 single base substitution C T downstream_gene_variant MELA-AU 1 224350299 224350299 single base substitution C T downstream_gene_variant MELA-AU 1 224350876 224350876 single base substitution C T downstream_gene_variant MELA-AU 1 224351032 224351032 single base substitution C T downstream_gene_variant MELA-AU 1 224351560 224351560 single base substitution G A downstream_gene_variant MELA-AU 1 224351912 224351912 single base substitution C T downstream_gene_variant MELA-AU 1 224352102 224352102 single base substitution A G downstream_gene_variant MELA-AU 1 224352169 224352169 single base substitution G A downstream_gene_variant MELA-AU 1 224352437 224352437 single base substitution G A downstream_gene_variant MELA-AU 1 224352441 224352441 single base substitution C T downstream_gene_variant MELA-AU 1 224352460 224352460 single base substitution G A downstream_gene_variant MELA-AU 1 224353263 224353263 single base substitution C T downstream_gene_variant MELA-AU 1 224353777 224353777 single base substitution C T downstream_gene_variant MELA-AU 1 224353891 224353891 single base substitution C T downstream_gene_variant MELA-AU 1 224353915 224353915 single base substitution G A downstream_gene_variant MELA-AU 1 224354064 224354065 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 224354086 224354086 single base substitution G A downstream_gene_variant MELA-AU 1 224354156 224354156 single base substitution C A downstream_gene_variant MELA-AU 1 224354512 224354512 single base substitution G A downstream_gene_variant MELA-AU 1 224354650 224354650 single base substitution G A downstream_gene_variant MELA-AU 1 224354658 224354659 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant ORCA-IN 1 224297747 224297747 single base substitution G T upstream_gene_variant ORCA-IN 1 224298872 224298872 single base substitution C T upstream_gene_variant ORCA-IN 1 224300583 224300583 single base substitution G A upstream_gene_variant OV-AU 1 224297317 224297317 single base substitution A C upstream_gene_variant OV-AU 1 224299823 224299823 single base substitution A G upstream_gene_variant OV-AU 1 224300814 224300814 single base substitution C A upstream_gene_variant OV-AU 1 224300899 224300899 single base substitution G C upstream_gene_variant OV-AU 1 224309849 224309849 single base substitution G A intron_variant OV-AU 1 224310068 224310068 single base substitution G C intron_variant OV-AU 1 224312955 224312955 single base substitution G A intron_variant OV-AU 1 224318791 224318791 single base substitution A T downstream_gene_variant OV-AU 1 224318791 224318791 single base substitution A T intron_variant OV-AU 1 224328808 224328808 single base substitution T C intron_variant OV-AU 1 224331000 224331000 single base substitution C G intron_variant OV-AU 1 224331541 224331541 single base substitution A T intron_variant OV-AU 1 224331659 224331659 single base substitution C T intron_variant OV-AU 1 224337653 224337653 single base substitution G A intron_variant OV-AU 1 224338922 224338922 single base substitution C T intron_variant OV-AU 1 224339467 224339467 single base substitution G A intron_variant OV-AU 1 224340824 224340824 single base substitution A T intron_variant OV-AU 1 224341089 224341089 single base substitution C T intron_variant OV-AU 1 224344877 224344877 single base substitution T C intron_variant OV-AU 1 224349353 224349353 single base substitution A G 3_prime_UTR_variant OV-AU 1 224349353 224349353 single base substitution A G downstream_gene_variant PACA-AU 1 224297944 224297944 single base substitution A G upstream_gene_variant PACA-AU 1 224304000 224304000 single base substitution A C intron_variant PACA-AU 1 224304004 224304004 single base substitution A G intron_variant PACA-AU 1 224306458 224306458 single base substitution C T intron_variant PACA-AU 1 224313914 224313914 single base substitution A G intron_variant PACA-AU 1 224318157 224318157 single base substitution C G intron_variant PACA-AU 1 224318189 224318189 single base substitution G T exon_variant PACA-AU 1 224318189 224318189 single base substitution G T missense_variant D95Y 283G>T PACA-AU 1 224319920 224319920 single base substitution C T downstream_gene_variant PACA-AU 1 224319920 224319920 single base substitution C T intron_variant PACA-AU 1 224326699 224326699 single base substitution A G downstream_gene_variant PACA-AU 1 224326699 224326699 single base substitution A G intron_variant PACA-AU 1 224327692 224327692 single base substitution C T intron_variant PACA-AU 1 224329084 224329084 single base substitution A G intron_variant PACA-AU 1 224329736 224329736 single base substitution G T intron_variant PACA-AU 1 224329752 224329752 single base substitution T C intron_variant PACA-AU 1 224331462 224331462 single base substitution C T intron_variant PACA-AU 1 224335651 224335651 single base substitution G T intron_variant PACA-AU 1 224338775 224338775 single base substitution C T intron_variant PACA-AU 1 224343717 224343717 single base substitution A C intron_variant PACA-AU 1 224347423 224347423 single base substitution C T 3_prime_UTR_variant PACA-AU 1 224347423 224347423 single base substitution C T downstream_gene_variant PACA-AU 1 224348378 224348380 deletion of <=200bp AAA - 3_prime_UTR_variant PACA-AU 1 224348378 224348380 deletion of <=200bp AAA - downstream_gene_variant PACA-CA 1 224302104 224302104 single base substitution G C intron_variant PACA-CA 1 224305919 224305919 single base substitution C A intron_variant PACA-CA 1 224307477 224307477 insertion of <=200bp - A intron_variant PACA-CA 1 224307643 224307643 single base substitution A T intron_variant PACA-CA 1 224310309 224310309 insertion of <=200bp - C intron_variant PACA-CA 1 224313805 224313805 single base substitution A G intron_variant PACA-CA 1 224314003 224314003 single base substitution A T intron_variant PACA-CA 1 224316577 224316577 single base substitution A G intron_variant PACA-CA 1 224320462 224320462 single base substitution G A downstream_gene_variant PACA-CA 1 224320462 224320462 single base substitution G A intron_variant PACA-CA 1 224323410 224323410 single base substitution G T downstream_gene_variant PACA-CA 1 224323410 224323410 single base substitution G T intron_variant PACA-CA 1 224327921 224327921 single base substitution T C intron_variant PACA-CA 1 224328479 224328479 single base substitution T G intron_variant PACA-CA 1 224329053 224329053 single base substitution G C intron_variant PACA-CA 1 224329468 224329468 single base substitution A G intron_variant PACA-CA 1 224330894 224330894 single base substitution C G intron_variant PACA-CA 1 224331342 224331342 single base substitution C T intron_variant PACA-CA 1 224336136 224336136 single base substitution A G intron_variant PACA-CA 1 224336897 224336897 single base substitution T G intron_variant PACA-CA 1 224342141 224342141 deletion of <=200bp G - intron_variant PACA-CA 1 224342206 224342206 single base substitution C G intron_variant PACA-CA 1 224344019 224344019 single base substitution T A intron_variant PACA-CA 1 224352231 224352231 single base substitution C G downstream_gene_variant PACA-CA 1 224353309 224353309 single base substitution T A downstream_gene_variant PAEN-AU 1 224298937 224298937 single base substitution C A upstream_gene_variant PAEN-AU 1 224309965 224309965 single base substitution C A intron_variant PBCA-DE 1 224299660 224299660 insertion of <=200bp - A upstream_gene_variant PBCA-DE 1 224302056 224302056 single base substitution C T exon_variant PBCA-DE 1 224302056 224302056 single base substitution C T synonymous_variant I75I 225C>T PBCA-DE 1 224305042 224305042 deletion of <=200bp C - intron_variant PBCA-DE 1 224315480 224315480 single base substitution G A intron_variant PBCA-DE 1 224336330 224336330 single base substitution C G intron_variant PRAD-CA 1 224312130 224312130 single base substitution C G intron_variant PRAD-CA 1 224327012 224327012 single base substitution T G downstream_gene_variant PRAD-CA 1 224327012 224327012 single base substitution T G intron_variant PRAD-UK 1 224312460 224312460 single base substitution C G intron_variant PRAD-UK 1 224317614 224317614 single base substitution C T intron_variant PRAD-UK 1 224322744 224322744 single base substitution G T downstream_gene_variant PRAD-UK 1 224322744 224322744 single base substitution G T intron_variant PRAD-UK 1 224323326 224323326 insertion of <=200bp - AG downstream_gene_variant PRAD-UK 1 224323326 224323326 insertion of <=200bp - AG intron_variant PRAD-UK 1 224345773 224345773 single base substitution T G 3_prime_UTR_variant PRAD-UK 1 224347424 224347424 single base substitution G A 3_prime_UTR_variant PRAD-UK 1 224347424 224347424 single base substitution G A downstream_gene_variant PRAD-UK 1 224354748 224354748 single base substitution G A downstream_gene_variant READ-US 1 224345212 224345212 single base substitution G A 3_prime_UTR_variant READ-US 1 224345212 224345212 single base substitution G A missense_variant E291K 871G>A RECA-EU 1 224304517 224304517 single base substitution T G intron_variant RECA-EU 1 224309127 224309127 single base substitution A G intron_variant RECA-EU 1 224311144 224311144 single base substitution C A intron_variant RECA-EU 1 224318319 224318319 single base substitution T A exon_variant RECA-EU 1 224318319 224318319 single base substitution T A intron_variant RECA-EU 1 224323327 224323327 single base substitution A G downstream_gene_variant RECA-EU 1 224323327 224323327 single base substitution A G intron_variant RECA-EU 1 224323328 224323328 single base substitution A G downstream_gene_variant RECA-EU 1 224323328 224323328 single base substitution A G intron_variant RECA-EU 1 224323332 224323332 single base substitution A G downstream_gene_variant RECA-EU 1 224323332 224323332 single base substitution A G intron_variant RECA-EU 1 224327466 224327466 single base substitution G A intron_variant RECA-EU 1 224327474 224327474 single base substitution A G intron_variant RECA-EU 1 224335122 224335122 single base substitution C A intron_variant RECA-EU 1 224338582 224338582 single base substitution G A intron_variant SKCA-BR 1 224298441 224298441 single base substitution C T upstream_gene_variant SKCA-BR 1 224298533 224298533 single base substitution C T upstream_gene_variant SKCA-BR 1 224301737 224301737 single base substitution G A upstream_gene_variant SKCA-BR 1 224303892 224303892 single base substitution T C intron_variant SKCA-BR 1 224305694 224305694 single base substitution A T intron_variant SKCA-BR 1 224305698 224305698 single base substitution A T intron_variant SKCA-BR 1 224306837 224306837 single base substitution C T intron_variant SKCA-BR 1 224307037 224307037 single base substitution C T intron_variant SKCA-BR 1 224310257 224310257 single base substitution A G intron_variant SKCA-BR 1 224311654 224311654 single base substitution C A intron_variant SKCA-BR 1 224312051 224312051 single base substitution C T intron_variant SKCA-BR 1 224313344 224313344 insertion of <=200bp - CT intron_variant SKCA-BR 1 224314776 224314776 single base substitution A C intron_variant SKCA-BR 1 224314866 224314866 insertion of <=200bp - TTG intron_variant SKCA-BR 1 224318429 224318429 single base substitution T C exon_variant SKCA-BR 1 224318429 224318429 single base substitution T C intron_variant SKCA-BR 1 224321306 224321306 single base substitution G A downstream_gene_variant SKCA-BR 1 224321306 224321306 single base substitution G A intron_variant SKCA-BR 1 224321456 224321456 single base substitution A C downstream_gene_variant SKCA-BR 1 224321456 224321456 single base substitution A C intron_variant SKCA-BR 1 224323898 224323898 single base substitution C T downstream_gene_variant SKCA-BR 1 224323898 224323898 single base substitution C T intron_variant SKCA-BR 1 224326586 224326586 single base substitution C T downstream_gene_variant SKCA-BR 1 224326586 224326586 single base substitution C T intron_variant SKCA-BR 1 224327454 224327454 insertion of <=200bp - ACATG intron_variant SKCA-BR 1 224327466 224327466 insertion of <=200bp - GCATGCATACATA intron_variant SKCA-BR 1 224327470 224327470 single base substitution A G intron_variant SKCA-BR 1 224327474 224327474 single base substitution A G intron_variant SKCA-BR 1 224330170 224330171 deletion of <=200bp AC - intron_variant SKCA-BR 1 224330171 224330171 single base substitution C G intron_variant SKCA-BR 1 224332332 224332332 single base substitution T G intron_variant SKCA-BR 1 224334366 224334366 single base substitution A C intron_variant SKCA-BR 1 224334917 224334917 single base substitution G A intron_variant SKCA-BR 1 224336247 224336247 single base substitution C T intron_variant SKCA-BR 1 224338426 224338426 single base substitution C T intron_variant SKCA-BR 1 224339193 224339193 single base substitution G A intron_variant SKCA-BR 1 224339447 224339447 single base substitution A G intron_variant SKCA-BR 1 224342182 224342182 single base substitution G A intron_variant SKCA-BR 1 224351466 224351466 single base substitution T C downstream_gene_variant SKCA-BR 1 224351681 224351681 single base substitution G A downstream_gene_variant SKCA-BR 1 224353173 224353173 single base substitution T C downstream_gene_variant SKCM-US 1 224301887 224301887 deletion of <=200bp A - exon_variant SKCM-US 1 224301887 224301887 deletion of <=200bp A - frameshift_variant D19 SKCM-US 1 224301887 224301887 deletion of <=200bp A - upstream_gene_variant SKCM-US 1 224318205 224318205 single base substitution G T exon_variant SKCM-US 1 224318205 224318205 single base substitution G T missense_variant R100I 299G>T SKCM-US 1 224340893 224340893 single base substitution C T 3_prime_UTR_variant SKCM-US 1 224340893 224340893 single base substitution C T intron_variant SKCM-US 1 224340893 224340893 single base substitution C T missense_variant A189V 566C>T SKCM-US 1 224345107 224345107 single base substitution C T 3_prime_UTR_variant SKCM-US 1 224345107 224345107 single base substitution C T missense_variant P256S 766C>T SKCM-US 1 224345206 224345206 single base substitution G T 3_prime_UTR_variant SKCM-US 1 224345206 224345206 single base substitution G T missense_variant V289L 865G>T SKCM-US 1 224345355 224345355 single base substitution C T 3_prime_UTR_variant SKCM-US 1 224345355 224345355 single base substitution C T synonymous_variant S338S 1014C>T STAD-US 1 224301881 224301881 deletion of <=200bp A - exon_variant STAD-US 1 224301881 224301881 deletion of <=200bp A - frameshift_variant Q17 STAD-US 1 224301881 224301881 deletion of <=200bp A - upstream_gene_variant STAD-US 1 224301979 224301979 insertion of <=200bp - C exon_variant STAD-US 1 224301979 224301979 insertion of <=200bp - C frameshift_variant A50R? STAD-US 1 224302029 224302029 single base substitution G A exon_variant STAD-US 1 224302029 224302029 single base substitution G A synonymous_variant A66A 198G>A STAD-US 1 224318241 224318241 single base substitution A G exon_variant STAD-US 1 224318241 224318241 single base substitution A G missense_variant Y112C 335A>G STAD-US 1 224321810 224321810 single base substitution C T downstream_gene_variant STAD-US 1 224321810 224321810 single base substitution C T exon_variant STAD-US 1 224321810 224321810 single base substitution C T intron_variant STAD-US 1 224321810 224321810 single base substitution C T missense_variant R138C 412C>T STAD-US 1 224340859 224340859 single base substitution T C 3_prime_UTR_variant STAD-US 1 224340859 224340859 single base substitution T C intron_variant STAD-US 1 224340859 224340859 single base substitution T C missense_variant Y178H 532T>C STAD-US 1 224345314 224345314 single base substitution C T 3_prime_UTR_variant STAD-US 1 224345314 224345314 single base substitution C T stop_gained R325* 973C>T UCEC-US 1 224318184 224318184 single base substitution G A exon_variant UCEC-US 1 224318184 224318184 single base substitution G A missense_variant R93K 278G>A UCEC-US 1 224318215 224318215 single base substitution T G exon_variant UCEC-US 1 224318215 224318215 single base substitution T G missense_variant N103K 309T>G UCEC-US 1 224321810 224321810 single base substitution C T downstream_gene_variant UCEC-US 1 224321810 224321810 single base substitution C T exon_variant UCEC-US 1 224321810 224321810 single base substitution C T intron_variant UCEC-US 1 224321810 224321810 single base substitution C T missense_variant R138C 412C>T UCEC-US 1 224340922 224340922 single base substitution G T 3_prime_UTR_variant UCEC-US 1 224340922 224340922 single base substitution G T intron_variant UCEC-US 1 224340922 224340922 single base substitution G T stop_gained E199* 595G>T UCEC-US 1 224345314 224345314 single base substitution C T 3_prime_UTR_variant UCEC-US 1 224345314 224345314 single base substitution C T stop_gained R325* 973C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-CD-A4MG-01 COSM4028619 c.335A>G p.Y112C Substitution - Missense 1:224130539-224130539 + SC_9055 COSM5550109 c.155C>T p.A52V Substitution - Missense 1:224114284-224114284 + 86323 COSM94286 c.504C>A p.F168L Substitution - Missense 1:224134200-224134200 + TCGA-B5-A0K6-01 COSM904477 c.278G>A p.R93K Substitution - Missense 1:224130482-224130482 + SC_9081 COSM5518251 c.574C>T p.R192* Substitution - Nonsense 1:224153199-224153199 + cSCCP7 COSM139363 c.848C>T p.S283F Substitution - Missense 1:224157487-224157487 + CSCC-37-T COSM4450809 c.878delA p.K294fs*11 Deletion - Frameshift 1:224157517-224157517 + H1155 COSM1195323 c.1094G>A p.R365Q Substitution - Missense 1:224157733-224157733 + LUAD-S00499 COSM385306 c.410C>G p.A137G Substitution - Missense 1:224134106-224134106 + Pat_26_A COSM5845624 c.909delG p.L304fs*1 Deletion - Frameshift 1:224157548-224157548 + TCGA-A8-A09G-01 COSM425418 c.692G>A p.R231K Substitution - Missense 1:224153317-224153317 + YUKIL COSM1689904 c.308A>G p.N103S Substitution - Missense 1:224130512-224130512 + TCGA-BR-8680-01 COSM904479 c.412C>T p.R138C Substitution - Missense 1:224134108-224134108 + TCGA-AP-A059-01 COSM904479 c.412C>T p.R138C Substitution - Missense 1:224134108-224134108 + TCGA-BR-6705-01 COSM904481 c.973C>T p.R325* Substitution - Nonsense 1:224157612-224157612 + ICGC_PA37 COSM3670149 c.225C>T p.I75I Substitution - coding silent 1:224114354-224114354 + LP6005409-DNA_E01 COSM4409114 c.536G>A p.R179H Substitution - Missense 1:224153161-224153161 + YUFERY COSM5379778 c.532T>A p.Y178N Substitution - Missense 1:224153157-224153157 + T75 COSM1178044 c.894C>T p.D298D Substitution - coding silent 1:224157533-224157533 + TCGA-QB-A6FS-06 COSM3864564 c.299G>T p.R100I Substitution - Missense 1:224130503-224130503 + T55 COSM4683951 c.503T>A p.F168Y Substitution - Missense 1:224134199-224134199 + 8066461 COSM3771640 c.283G>T p.D95Y Substitution - Missense 1:224130487-224130487 + CSCC-18-T COSM4545465 c.378G>C p.R126S Substitution - Missense 1:224134074-224134074 + TCGA-GN-A26C-01 COSM1339151 c.1014C>T p.S338S Substitution - coding silent 1:224157653-224157653 + CHC1052T COSM3667463 c.12G>T p.A4A Substitution - coding silent 1:224114141-224114141 + YUFERY COSM5379777 c.531T>A p.I177I Substitution - coding silent 1:224153156-224153156 + TCGA-C8-A1HM-01 COSM425417 c.38G>A p.G13E Substitution - Missense 1:224114167-224114167 + CSCC-31-T COSM4456549 c.1013C>T p.S338F Substitution - Missense 1:224157652-224157652 + YUKLAB COSM1689905 c.709_710CC>TT p.P237L Substitution - Missense 1:224153334-224153335 + CSCC-10-T COSM4468349 c.153C>T p.P51P Substitution - coding silent 1:224114282-224114282 + YUFIT COSM5379779 c.1053C>T p.A351A Substitution - coding silent 1:224157692-224157692 + 63 COSM5014189 c.662G>C p.R221T Substitution - Missense 1:224153287-224153287 + T2269 COSM4683952 c.857G>A p.R286H Substitution - Missense 1:224157496-224157496 + HCC080T COSM5810487 c.807A>T p.K269N Substitution - Missense 1:224157446-224157446 + ATL037 COSM5705236 c.723G>C p.P241P Substitution - coding silent 1:224157362-224157362 + ESCC-D2 COSM5045761 c.723G>A p.P241P Substitution - coding silent 1:224157362-224157362 + TCGA-FW-A3R5-06 COSM3864566 c.766C>T p.P256S Substitution - Missense 1:224157405-224157405 + TCGA-04-1331-01 COSM70755 c.397A>T p.N133Y Substitution - Missense 1:224134093-224134093 + TCGA-DK-A3WW-01 COSM3789542 c.998G>C p.G333A Substitution - Missense 1:224157637-224157637 + PT33 COSM5907891 c.671C>T p.P224L Substitution - Missense 1:224153296-224153296 + ATL045 COSM5705237 c.1042C>T p.R348* Substitution - Nonsense 1:224157681-224157681 + TCGA-DM-A1D0-01 COSM1339151 c.1014C>T p.S338S Substitution - coding silent 1:224157653-224157653 + TCGA-AX-A05Z-01 COSM904480 c.595G>T p.E199* Substitution - Nonsense 1:224153220-224153220 + CHC1052T COSM3667463 c.12G>T p.A4A Substitution - coding silent 1:224114141-224114141 + PD18247a COSM3984768 c.228C>G p.L76L Substitution - coding silent 1:224114357-224114357 + LUAD-YINHD COSM349978 c.1009G>T p.G337W Substitution - Missense 1:224157648-224157648 + TCGA-FW-A3R5-06 COSM3864565 c.566C>T p.A189V Substitution - Missense 1:224153191-224153191 + TCGA-D8-A1JB-01 COSM1195323 c.1094G>A p.R365Q Substitution - Missense 1:224157733-224157733 + TCGA-F5-6814-01 COSM3418808 c.871G>A p.E291K Substitution - Missense 1:224157510-224157510 + SNUH_G15_S1 COSM3677571 c.845T>A p.I282N Substitution - Missense 1:224157484-224157484 + TCGA-DD-A4NJ-01 COSM4920989 c.1022A>T p.N341I Substitution - Missense 1:224157661-224157661 + PD2147a COSM30512 c.1034C>A p.P345H Substitution - Missense 1:224157673-224157673 + 2492730 COSM5729389 c.134C>T p.S45F Substitution - Missense 1:224114263-224114263 + 9227_T COSM5039769 c.701G>A p.G234D Substitution - Missense 1:224153326-224153326 + TCGA-21-1081-01 COSM679403 c.713T>G p.V238G Substitution - Missense 1:224157352-224157352 + TCGA-BR-6452-01 COSM4028620 c.532T>C p.Y178H Substitution - Missense 1:224153157-224153157 + SC_9012 COSM5562575 c.146C>T p.P49L Substitution - Missense 1:224114275-224114275 + SJOS005_D COSM5024044 c.351G>C p.Q117H Substitution - Missense 1:224130555-224130555 + TCGA-DK-A3WW-01 COSM3789541 c.898G>C p.D300H Substitution - Missense 1:224157537-224157537 + TCGA-AP-A0LM-01 COSM904481 c.973C>T p.R325* Substitution - Nonsense 1:224157612-224157612 + PD4874a COSM5800432 c.583G>T p.E195* Substitution - Nonsense 1:224153208-224153208 + CSCC-29-T COSM425417 c.38G>A p.G13E Substitution - Missense 1:224114167-224114167 + 115 COSM5010734 c.928A>G p.I310V Substitution - Missense 1:224157567-224157567 + TCGA-BP-5008-01 COSM1491949 c.930A>G p.I310M Substitution - Missense 1:224157569-224157569 + 36 COSM5733483 c.742A>G p.M248V Substitution - Missense 1:224157381-224157381 + KM12 COSM1960703 c.964C>T p.R322C Substitution - Missense 1:224157603-224157603 + BD236T COSM5518251 c.574C>T p.R192* Substitution - Nonsense 1:224153199-224153199 + Pat_36_B COSM5845623 c.734delT p.L245fs*31 Deletion - Frameshift 1:224157373-224157373 + LC_S17 COSM1185750 c.699G>T p.M233I Substitution - Missense 1:224153324-224153324 + TCGA-D3-A51T-06 COSM3484170 c.865G>T p.V289L Substitution - Missense 1:224157504-224157504 + TCGA-GD-A3OQ-01 COSM1295916 c.278G>C p.R93T Substitution - Missense 1:224130482-224130482 + PD2147a COSM30512 c.1034C>A p.P345H Substitution - Missense 1:224157673-224157673 + 587278 COSM904481 c.973C>T p.R325* Substitution - Nonsense 1:224157612-224157612 + TCGA-BR-8487-01 COSM4028618 c.198G>A p.A66A Substitution - coding silent 1:224114327-224114327 + 045 COSM145408 c.1087C>T p.R363C Substitution - Missense 1:224157726-224157726 + SC_9029 COSM5564037 c.297G>T p.Q99H Substitution - Missense 1:224130501-224130501 + TCGA-AZ-4615-01 COSM3689374 c.431C>T p.A144V Substitution - Missense 1:224134127-224134127 + PT52 COSM5938649 c.268-7C>T p.? Unknown 1:224130465-224130465 + 73 COSM5014190 c.1048A>G p.K350E Substitution - Missense 1:224157687-224157687 + 18 COSM5744703 c.997G>T p.G333* Substitution - Nonsense 1:224157636-224157636 + TCGA-DK-A3IN-01 COSM3789540 c.439G>C p.E147Q Substitution - Missense 1:224134135-224134135 + TCGA-B5-A0JY-01 COSM904478 c.309T>G p.N103K Substitution - Missense 1:224130513-224130513 + PCSI_0472_Pa_P_526 COSM5031582 c.267+6G>C p.? Unknown 1:224114402-224114402 + YUSWI COSM1689906 c.1033C>T p.P345S Substitution - Missense 1:224157672-224157672 + PD7217a COSM5800656 c.324A>T p.K108N Substitution - Missense 1:224130528-224130528 + TCGA-24-1544-01 COSM82137 c.306G>A p.L102L Substitution - coding silent 1:224130510-224130510 + ccRCC-21 COSM1661820 c.934G>T p.E312* Substitution - Nonsense 1:224157573-224157573 + TCGA-BH-A0HF-01 COSM3804046 c.288G>A p.L96L Substitution - coding silent 1:224130492-224130492 + TCGA-DW-7841-01 COSM3984768 c.228C>G p.L76L Substitution - coding silent 1:224114357-224114357 + 045-0082-04TD COSM145408 c.1087C>T p.R363C Substitution - Missense 1:224157726-224157726 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.64691 1q42.11 609100 2488135|CGAP|BC031576|A/G|non-coding||2627|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.D19Afs*52 c.56delA 1 224301887 CM A - Frameshift p.K350Rfs*6 c.1049delA 1 224345385 RCCC A T 3-UTRSNV . c.1104+2773A>T 1 224348218 HC A T Missense p.N133Y c.397A>T 1 224321795 OV C T Missense p.R179C c.535C>T 1 224340862 CM C T Missense p.R363C c.1087C>T 1 224345428 CLL C T Nonsense p.R325* c.973C>T 1 224345314 STAD C T Synonymous p.S338S c.1014C>T 1 224345355 CM G A Missense p.G311S c.931G>A 1 224345272 BRCA G A Missense p.R365Q c.1094G>A 1 224345435 BRCA G A Missense p.R93K c.278G>A 1 224318184 UCEC G A Synonymous p.L102L c.306G>A 1 224318212 OV G C Missense p.E147Q c.439G>C 1 224321837 BLCA G C Missense p.R93T c.278G>C 1 224318184 BLCA T G Missense p.V238G c.713T>G 1 224345054 LUSC T G Synonymous p.V120V c.360T>G 1 224318266 CM