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 2 219528996 219528996 + Missense_Mutation SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr2:219528996G>C c.1064C>G c.(1063-1065)cCa>cGa p.P355R BLCA 2 219529467 219529467 + Nonsense_Mutation SNP G G A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr2:219529467G>A c.796C>T c.(796-798)Cag>Tag p.Q266* BLCA 2 219530894 219530894 + Silent SNP G G A TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr2:219530894G>A c.417C>T c.(415-417)ctC>ctT p.L139L BLCA 2 219532820 219532820 + Missense_Mutation SNP G G A TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr2:219532820G>A c.269C>T c.(268-270)tCa>tTa p.S90L BLCA 2 219532840 219532840 + Missense_Mutation SNP G G C TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr2:219532840G>C c.249C>G c.(247-249)atC>atG p.I83M BLCA 2 219532976 219532976 + Nonsense_Mutation SNP G G A TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr2:219532976G>A c.205C>T c.(205-207)Cag>Tag p.Q69* BLCA 2 219532976 219532976 + Nonsense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr2:219532976G>A c.205C>T c.(205-207)Cag>Tag p.Q69* COAD 2 219528960 219528960 + Missense_Mutation SNP C C T TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr2:219528960C>T c.1100G>A c.(1099-1101)cGt>cAt p.R367H COAD 2 219529216 219529216 + Missense_Mutation SNP T T C TCGA-AA-3844-01A-01W-0995-10 TCGA-AA-3844-10A-01W-0995-10 g.chr2:219529216T>C c.844A>G c.(844-846)Aaa>Gaa p.K282E COAD 2 219529490 219529490 + Missense_Mutation SNP C C T TCGA-DM-A1D0-01A-11D-A152-10 TCGA-DM-A1D0-10A-01D-A152-10 g.chr2:219529490C>T c.773G>A c.(772-774)cGa>cAa p.R258Q COAD 2 219529514 219529514 + Frame_Shift_Del DEL C C - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:219529514delC c.749delG c.(748-750)ggafs p.G250fs COAD 2 219529514 219529514 + Frame_Shift_Del DEL C C - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:219529514delC c.749delG c.(748-750)ggafs p.G250fs COADREAD 2 219528960 219528960 + Missense_Mutation SNP C C T TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr2:219528960C>T c.1100G>A c.(1099-1101)cGt>cAt p.R367H COADREAD 2 219529216 219529216 + Missense_Mutation SNP T T C TCGA-AA-3844-01A-01W-0995-10 TCGA-AA-3844-10A-01W-0995-10 g.chr2:219529216T>C c.844A>G c.(844-846)Aaa>Gaa p.K282E COADREAD 2 219529490 219529490 + Missense_Mutation SNP C C T TCGA-DM-A1D0-01A-11D-A152-10 TCGA-DM-A1D0-10A-01D-A152-10 g.chr2:219529490C>T c.773G>A c.(772-774)cGa>cAa p.R258Q COADREAD 2 219529514 219529514 + Frame_Shift_Del DEL C C - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:219529514delC c.749delG c.(748-750)ggafs p.G250fs COADREAD 2 219529514 219529514 + Frame_Shift_Del DEL C C - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:219529514delC c.749delG c.(748-750)ggafs p.G250fs ESCA 2 219529070 219529070 + Silent SNP G G A TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 g.chr2:219529070G>A c.990C>T c.(988-990)ggC>ggT p.G330G GBMLGG 2 219529149 219529149 + Missense_Mutation SNP A A C TCGA-S9-A6U6-01A-12D-A33T-08 TCGA-S9-A6U6-10A-01D-A33W-08 g.chr2:219529149A>C c.911T>G c.(910-912)tTg>tGg p.L304W HNSC 2 219528721 219528721 + Missense_Mutation SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 g.chr2:219528721G>A c.1339C>T c.(1339-1341)Cgg>Tgg p.R447W HNSC 2 219529908 219529908 + Silent SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr2:219529908C>G c.636G>C c.(634-636)ctG>ctC p.L212L HNSC 2 219529928 219529928 + Missense_Mutation SNP C C T TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 g.chr2:219529928C>T c.616G>A c.(616-618)Gtg>Atg p.V206M HNSC 2 219536676 219536676 + Silent SNP A A G TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr2:219536676A>G c.18T>C c.(16-18)tcT>tcC p.S6S KIPAN 2 219529592 219529592 + Missense_Mutation SNP A A G TCGA-CZ-5468-01A-01D-1501-10 TCGA-CZ-5468-11A-01D-1501-10 g.chr2:219529592A>G c.671T>C c.(670-672)cTg>cCg p.L224P KIPAN 2 219532706 219532706 + Splice_Site SNP T T C TCGA-B0-4811-01A-01D-1501-10 TCGA-B0-4811-11A-02D-1501-10 g.chr2:219532706T>C c.e5-2 KIPAN 2 219532832 219532832 + Missense_Mutation SNP G G A TCGA-CZ-5458-01A-01D-1501-10 TCGA-CZ-5458-11A-01D-1501-10 g.chr2:219532832G>A c.257C>T c.(256-258)cCc>cTc p.P86L KIRC 2 219529592 219529592 + Missense_Mutation SNP A A G TCGA-CZ-5468-01A-01D-1501-10 TCGA-CZ-5468-11A-01D-1501-10 g.chr2:219529592A>G c.671T>C c.(670-672)cTg>cCg p.L224P KIRC 2 219532706 219532706 + Splice_Site SNP T T C TCGA-B0-4811-01A-01D-1501-10 TCGA-B0-4811-11A-02D-1501-10 g.chr2:219532706T>C c.e5-2 KIRC 2 219532832 219532832 + Missense_Mutation SNP G G A TCGA-CZ-5458-01A-01D-1501-10 TCGA-CZ-5458-11A-01D-1501-10 g.chr2:219532832G>A c.257C>T c.(256-258)cCc>cTc p.P86L LAML 2 219533395 219533395 + Missense_Mutation SNP G G T TCGA-AB-2923-03A-01W-0745-08 TCGA-AB-2923-11A-01W-0745-08 g.chr2:219533395G>T c.49C>A c.(49-51)Ccc>Acc p.P17T LGG 2 219529149 219529149 + Missense_Mutation SNP A A C TCGA-S9-A6U6-01A-12D-A33T-08 TCGA-S9-A6U6-10A-01D-A33W-08 g.chr2:219529149A>C c.911T>G c.(910-912)tTg>tGg p.L304W LUAD 2 219528862 219528862 + Missense_Mutation SNP C C T TCGA-75-5126-01A-01D-1753-08 TCGA-75-5126-10A-01D-1753-08 g.chr2:219528862C>T c.1198G>A c.(1198-1200)Gag>Aag p.E400K LUAD 2 219528898 219528898 + Missense_Mutation SNP C C G TCGA-L9-A444-01A-21D-A24D-08 TCGA-L9-A444-10A-01D-A24F-08 g.chr2:219528898C>G c.1162G>C c.(1162-1164)Gaa>Caa p.E388Q LUAD 2 219529102 219529102 + Missense_Mutation SNP G G C TCGA-44-2661-01A-01D-1105-08 TCGA-44-2661-10A-01D-1105-08 g.chr2:219529102G>C c.958C>G c.(958-960)Cca>Gca p.P320A LUAD 2 219529494 219529494 + Nonsense_Mutation SNP C C A TCGA-05-5428-01A-01D-1625-08 TCGA-05-5428-10A-01D-1625-08 g.chr2:219529494C>A c.769G>T c.(769-771)Gag>Tag p.E257* LUAD 2 219532829 219532829 + Missense_Mutation SNP C C A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 g.chr2:219532829C>A c.260G>T c.(259-261)cGa>cTa p.R87L LUSC 2 219532650 219532650 + Silent SNP C C T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 g.chr2:219532650C>T c.342G>A c.(340-342)ctG>ctA p.L114L OV 2 219528823 219528823 + Missense_Mutation SNP T T C TCGA-23-1028-01A-01W-0484-10 TCGA-23-1028-10B-01W-0484-10 g.chr2:219528823T>C c.1237A>G c.(1237-1239)Agg>Ggg p.R413G OV 2 219529146 219529146 + Missense_Mutation SNP G G A TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 g.chr2:219529146G>A c.914C>T c.(913-915)cCa>cTa p.P305L PAAD 2 219528785 219528785 + Silent SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:219528785G>T c.1275C>A c.(1273-1275)ggC>ggA p.G425G PAAD 2 219529962 219529962 + Silent SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 g.chr2:219529962G>A c.582C>T c.(580-582)gtC>gtT p.V194V SARC 2 219528857 219528857 + Missense_Mutation SNP C C A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 g.chr2:219528857C>A c.1203G>T c.(1201-1203)aaG>aaT p.K401N SARC 2 219529965 219529965 + Frame_Shift_Del DEL T T - TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 g.chr2:219529965delT c.579delA c.(577-579)gcafs p.A193fs SKCM 2 219528774 219528774 + Missense_Mutation SNP C C T TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 g.chr2:219528774C>T c.1286G>A c.(1285-1287)gGt>gAt p.G429D SKCM 2 219528914 219528914 + Silent SNP G G A TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr2:219528914G>A c.1146C>T c.(1144-1146)ccC>ccT p.P382P SKCM 2 219528925 219528925 + Missense_Mutation SNP G G A TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr2:219528925G>A c.1135C>T c.(1135-1137)Ctc>Ttc p.L379F SKCM 2 219529154 219529154 + Silent SNP G G A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr2:219529154G>A c.906C>T c.(904-906)tcC>tcT p.S302S SKCM 2 219529185 219529185 + Missense_Mutation SNP G G A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr2:219529185G>A c.875C>T c.(874-876)gCa>gTa p.A292V SKCM 2 219530920 219530920 + Missense_Mutation SNP G G A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 g.chr2:219530920G>A c.391C>T c.(391-393)Cct>Tct p.P131S SKCM 2 219532830 219532830 + Nonsense_Mutation SNP G G A TCGA-ER-A1A1-06A-11D-A197-08 TCGA-ER-A1A1-10A-01D-A199-08 g.chr2:219532830G>A c.259C>T c.(259-261)Cga>Tga p.R87*

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 2 219528996 219528996 single base substitution G C downstream_gene_variant BLCA-US 2 219528996 219528996 single base substitution G C exon_variant BLCA-US 2 219528996 219528996 single base substitution G C missense_variant P355R 1064C>G BLCA-US 2 219532976 219532976 single base substitution G A exon_variant BLCA-US 2 219532976 219532976 single base substitution G A intron_variant BLCA-US 2 219532976 219532976 single base substitution G A stop_gained Q69* 205C>T BLCA-US 2 219532976 219532976 single base substitution G A upstream_gene_variant BLCA-US 2 219537634 219537634 single base substitution C G upstream_gene_variant BRCA-EU 2 219523732 219523732 single base substitution C T downstream_gene_variant BRCA-EU 2 219525132 219525132 single base substitution C G downstream_gene_variant BRCA-EU 2 219525854 219525854 single base substitution G A downstream_gene_variant BRCA-EU 2 219526479 219526479 single base substitution C G downstream_gene_variant BRCA-EU 2 219526504 219526504 single base substitution G A downstream_gene_variant BRCA-EU 2 219526767 219526767 single base substitution C G downstream_gene_variant BRCA-EU 2 219528092 219528092 single base substitution G A downstream_gene_variant BRCA-EU 2 219528827 219528827 single base substitution G T downstream_gene_variant BRCA-EU 2 219528827 219528827 single base substitution G T exon_variant BRCA-EU 2 219528827 219528827 single base substitution G T synonymous_variant P411P 1233C>A BRCA-EU 2 219529364 219529364 single base substitution T G downstream_gene_variant BRCA-EU 2 219529364 219529364 single base substitution T G intron_variant BRCA-EU 2 219531825 219531825 single base substitution A T intron_variant BRCA-EU 2 219531825 219531825 single base substitution A T upstream_gene_variant BRCA-EU 2 219532192 219532192 single base substitution G A intron_variant BRCA-EU 2 219532192 219532192 single base substitution G A upstream_gene_variant BRCA-EU 2 219536876 219536876 single base substitution C G 5_prime_UTR_variant BRCA-EU 2 219536876 219536876 single base substitution C G upstream_gene_variant BRCA-EU 2 219537360 219537360 single base substitution C T upstream_gene_variant BRCA-EU 2 219538054 219538054 single base substitution T G upstream_gene_variant BRCA-EU 2 219538463 219538463 single base substitution T G upstream_gene_variant BRCA-EU 2 219540704 219540704 single base substitution T C upstream_gene_variant BRCA-FR 2 219526767 219526767 single base substitution C G downstream_gene_variant BRCA-FR 2 219530420 219530420 single base substitution T C downstream_gene_variant BRCA-FR 2 219530420 219530420 single base substitution T C intron_variant BRCA-FR 2 219530420 219530420 single base substitution T C upstream_gene_variant BRCA-UK 2 219526479 219526479 single base substitution C G downstream_gene_variant BRCA-UK 2 219536534 219536534 single base substitution C T intron_variant BRCA-UK 2 219536534 219536534 single base substitution C T upstream_gene_variant BRCA-US 2 219527298 219527298 single base substitution C T downstream_gene_variant BRCA-US 2 219527707 219527707 single base substitution A C downstream_gene_variant BRCA-US 2 219527991 219527991 single base substitution C G downstream_gene_variant BTCA-JP 2 219526239 219526239 single base substitution G A downstream_gene_variant BTCA-JP 2 219533345 219533345 deletion of <=200bp C - exon_variant BTCA-JP 2 219533345 219533345 deletion of <=200bp C - frameshift_variant V33 BTCA-JP 2 219533345 219533345 deletion of <=200bp C - upstream_gene_variant BTCA-JP 2 219533356 219533356 single base substitution C A exon_variant BTCA-JP 2 219533356 219533356 single base substitution C A stop_gained E30* 88G>T BTCA-JP 2 219533356 219533356 single base substitution C A upstream_gene_variant BTCA-JP 2 219541056 219541056 single base substitution T C upstream_gene_variant CESC-US 2 219526252 219526252 single base substitution C G downstream_gene_variant CESC-US 2 219526522 219526522 single base substitution G A downstream_gene_variant CESC-US 2 219526572 219526572 single base substitution G A downstream_gene_variant CLLE-ES 2 219525925 219525925 single base substitution C T downstream_gene_variant CLLE-ES 2 219534301 219534301 single base substitution G A intron_variant CLLE-ES 2 219534301 219534301 single base substitution G A upstream_gene_variant COAD-US 2 219525979 219525979 single base substitution G A downstream_gene_variant COAD-US 2 219527271 219527271 single base substitution T C downstream_gene_variant COAD-US 2 219528960 219528960 single base substitution C T downstream_gene_variant COAD-US 2 219528960 219528960 single base substitution C T exon_variant COAD-US 2 219528960 219528960 single base substitution C T missense_variant R367H 1100G>A COAD-US 2 219529514 219529514 deletion of <=200bp C - downstream_gene_variant COAD-US 2 219529514 219529514 deletion of <=200bp C - exon_variant COAD-US 2 219529514 219529514 deletion of <=200bp C - frameshift_variant G250 COAD-US 2 219532801 219532801 single base substitution C T splice_donor_variant COAD-US 2 219532801 219532801 single base substitution C T upstream_gene_variant COAD-US 2 219538431 219538431 single base substitution G T upstream_gene_variant COCA-CN 2 219526058 219526058 single base substitution G A downstream_gene_variant COCA-CN 2 219526965 219526965 single base substitution G A downstream_gene_variant COCA-CN 2 219528746 219528746 single base substitution G T downstream_gene_variant COCA-CN 2 219528746 219528746 single base substitution G T exon_variant COCA-CN 2 219528746 219528746 single base substitution G T synonymous_variant G438G 1314C>A COCA-CN 2 219529795 219529795 single base substitution C A downstream_gene_variant COCA-CN 2 219529795 219529795 single base substitution C A intron_variant COCA-CN 2 219529795 219529795 single base substitution C A upstream_gene_variant COCA-CN 2 219533229 219533229 single base substitution C G exon_variant COCA-CN 2 219533229 219533229 single base substitution C G intron_variant COCA-CN 2 219533229 219533229 single base substitution C G upstream_gene_variant COCA-CN 2 219538411 219538411 single base substitution C T upstream_gene_variant COCA-CN 2 219538658 219538658 single base substitution C T upstream_gene_variant COCA-CN 2 219540969 219540969 single base substitution C T upstream_gene_variant ESAD-UK 2 219526873 219526873 single base substitution G A downstream_gene_variant ESAD-UK 2 219531100 219531100 single base substitution G A intron_variant ESAD-UK 2 219531100 219531100 single base substitution G A upstream_gene_variant ESAD-UK 2 219532396 219532396 single base substitution A G intron_variant ESAD-UK 2 219532396 219532396 single base substitution A G upstream_gene_variant ESAD-UK 2 219532718 219532718 single base substitution G A intron_variant ESAD-UK 2 219532718 219532718 single base substitution G A upstream_gene_variant ESAD-UK 2 219533712 219533712 single base substitution A G intron_variant ESAD-UK 2 219533712 219533712 single base substitution A G upstream_gene_variant ESAD-UK 2 219535870 219535870 single base substitution G A intron_variant ESAD-UK 2 219535870 219535870 single base substitution G A upstream_gene_variant ESAD-UK 2 219537153 219537153 single base substitution G A upstream_gene_variant ESAD-UK 2 219541316 219541316 single base substitution G A upstream_gene_variant ESAD-UK 2 219541433 219541433 single base substitution G A upstream_gene_variant ESAD-UK 2 219541609 219541609 single base substitution G A upstream_gene_variant ESAD-UK 2 219541668 219541668 single base substitution C A upstream_gene_variant GBM-US 2 219527689 219527689 single base substitution C T downstream_gene_variant KIRC-US 2 219529592 219529592 single base substitution A G downstream_gene_variant KIRC-US 2 219529592 219529592 single base substitution A G exon_variant KIRC-US 2 219529592 219529592 single base substitution A G missense_variant L224P 671T>C KIRC-US 2 219532706 219532706 single base substitution T C splice_acceptor_variant KIRC-US 2 219532706 219532706 single base substitution T C upstream_gene_variant KIRC-US 2 219532832 219532832 single base substitution G A exon_variant KIRC-US 2 219532832 219532832 single base substitution G A missense_variant P86L 257C>T KIRC-US 2 219532832 219532832 single base substitution G A upstream_gene_variant KIRP-US 2 219529245 219529245 single base substitution G A downstream_gene_variant KIRP-US 2 219529245 219529245 single base substitution G A exon_variant KIRP-US 2 219529245 219529245 single base substitution G A missense_variant A272V 815C>T KIRP-US 2 219536685 219536685 single base substitution C G exon_variant KIRP-US 2 219536685 219536685 single base substitution C G synonymous_variant A3A 9G>C KIRP-US 2 219536685 219536685 single base substitution C G upstream_gene_variant LICA-CN 2 219540845 219540845 single base substitution A T upstream_gene_variant LICA-FR 2 219528018 219528018 single base substitution A G downstream_gene_variant LINC-JP 2 219527299 219527299 single base substitution T G downstream_gene_variant LINC-JP 2 219528073 219528073 single base substitution A G downstream_gene_variant LINC-JP 2 219528165 219528165 single base substitution T C downstream_gene_variant LINC-JP 2 219528180 219528180 single base substitution T C downstream_gene_variant LINC-JP 2 219528510 219528510 single base substitution T G downstream_gene_variant LINC-JP 2 219530686 219530686 single base substitution G C 3_prime_UTR_variant LINC-JP 2 219530686 219530686 single base substitution G C exon_variant LINC-JP 2 219530686 219530686 single base substitution G C missense_variant Q176E 526C>G LINC-JP 2 219530686 219530686 single base substitution G C upstream_gene_variant LINC-JP 2 219536613 219536613 single base substitution G C intron_variant LINC-JP 2 219536613 219536613 single base substitution G C upstream_gene_variant LINC-JP 2 219540973 219540973 single base substitution G A upstream_gene_variant LIRI-JP 2 219524113 219524113 single base substitution G C downstream_gene_variant LIRI-JP 2 219525418 219525418 single base substitution A G downstream_gene_variant LIRI-JP 2 219536086 219536086 single base substitution C A intron_variant LIRI-JP 2 219536086 219536086 single base substitution C A upstream_gene_variant LIRI-JP 2 219537237 219537237 single base substitution A T upstream_gene_variant LIRI-JP 2 219538735 219538735 single base substitution A G upstream_gene_variant LIRI-JP 2 219539703 219539703 single base substitution G C upstream_gene_variant LIRI-JP 2 219540466 219540466 single base substitution C T upstream_gene_variant LIRI-JP 2 219541126 219541126 single base substitution T G upstream_gene_variant LUSC-KR 2 219524306 219524306 single base substitution G A downstream_gene_variant LUSC-KR 2 219525007 219525007 single base substitution G A downstream_gene_variant LUSC-KR 2 219526739 219526739 single base substitution C T downstream_gene_variant LUSC-KR 2 219527005 219527005 single base substitution C T downstream_gene_variant LUSC-KR 2 219527712 219527712 single base substitution C T downstream_gene_variant LUSC-KR 2 219527866 219527866 single base substitution T C downstream_gene_variant LUSC-KR 2 219528995 219528995 single base substitution T C downstream_gene_variant LUSC-KR 2 219528995 219528995 single base substitution T C exon_variant LUSC-KR 2 219528995 219528995 single base substitution T C synonymous_variant P355P 1065A>G LUSC-KR 2 219529247 219529247 single base substitution A C downstream_gene_variant LUSC-KR 2 219529247 219529247 single base substitution A C exon_variant LUSC-KR 2 219529247 219529247 single base substitution A C synonymous_variant P271P 813T>G LUSC-KR 2 219529348 219529348 single base substitution C T downstream_gene_variant LUSC-KR 2 219529348 219529348 single base substitution C T intron_variant LUSC-KR 2 219529838 219529838 single base substitution A G downstream_gene_variant LUSC-KR 2 219529838 219529838 single base substitution A G intron_variant LUSC-KR 2 219529838 219529838 single base substitution A G upstream_gene_variant LUSC-KR 2 219529881 219529881 single base substitution G A 3_prime_UTR_variant LUSC-KR 2 219529881 219529881 single base substitution G A downstream_gene_variant LUSC-KR 2 219529881 219529881 single base substitution G A exon_variant LUSC-KR 2 219529881 219529881 single base substitution G A synonymous_variant P221P 663C>T LUSC-KR 2 219529881 219529881 single base substitution G A upstream_gene_variant LUSC-KR 2 219530090 219530090 single base substitution C T downstream_gene_variant LUSC-KR 2 219530090 219530090 single base substitution C T intron_variant LUSC-KR 2 219530090 219530090 single base substitution C T upstream_gene_variant LUSC-KR 2 219532542 219532542 single base substitution G A intron_variant LUSC-KR 2 219532542 219532542 single base substitution G A upstream_gene_variant LUSC-KR 2 219532903 219532903 single base substitution C T exon_variant LUSC-KR 2 219532903 219532903 single base substitution C T intron_variant LUSC-KR 2 219532903 219532903 single base substitution C T upstream_gene_variant LUSC-KR 2 219532905 219532905 single base substitution G A exon_variant LUSC-KR 2 219532905 219532905 single base substitution G A intron_variant LUSC-KR 2 219532905 219532905 single base substitution G A upstream_gene_variant LUSC-KR 2 219533229 219533229 single base substitution C G exon_variant LUSC-KR 2 219533229 219533229 single base substitution C G intron_variant LUSC-KR 2 219533229 219533229 single base substitution C G upstream_gene_variant LUSC-KR 2 219533378 219533378 single base substitution T C exon_variant LUSC-KR 2 219533378 219533378 single base substitution T C synonymous_variant V22V 66A>G LUSC-KR 2 219533378 219533378 single base substitution T C upstream_gene_variant LUSC-KR 2 219536647 219536647 single base substitution A T intron_variant LUSC-KR 2 219536647 219536647 single base substitution A T upstream_gene_variant LUSC-KR 2 219536966 219536966 single base substitution A C 5_prime_UTR_variant LUSC-KR 2 219536966 219536966 single base substitution A C upstream_gene_variant LUSC-KR 2 219541056 219541056 single base substitution T C upstream_gene_variant LUSC-US 2 219532650 219532650 single base substitution C T exon_variant LUSC-US 2 219532650 219532650 single base substitution C T synonymous_variant L114L 342G>A LUSC-US 2 219532650 219532650 single base substitution C T upstream_gene_variant LUSC-US 2 219540970 219540970 single base substitution G A upstream_gene_variant MALY-DE 2 219524568 219524568 single base substitution G A downstream_gene_variant MALY-DE 2 219525599 219525599 single base substitution G A downstream_gene_variant MELA-AU 2 219523737 219523737 single base substitution C T downstream_gene_variant MELA-AU 2 219524309 219524310 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 219524360 219524360 single base substitution G A downstream_gene_variant MELA-AU 2 219524412 219524412 single base substitution C A downstream_gene_variant MELA-AU 2 219525133 219525134 multiple base substitution (>=2bp and <=200bp) GT AA downstream_gene_variant MELA-AU 2 219525844 219525844 single base substitution G A downstream_gene_variant MELA-AU 2 219525986 219525986 single base substitution C T downstream_gene_variant MELA-AU 2 219527138 219527138 single base substitution C T downstream_gene_variant MELA-AU 2 219527625 219527626 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 219527879 219527880 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 219529820 219529820 single base substitution C T downstream_gene_variant MELA-AU 2 219529820 219529820 single base substitution C T intron_variant MELA-AU 2 219529820 219529820 single base substitution C T upstream_gene_variant MELA-AU 2 219531424 219531424 single base substitution C T intron_variant MELA-AU 2 219531424 219531424 single base substitution C T upstream_gene_variant MELA-AU 2 219532839 219532839 single base substitution G A exon_variant MELA-AU 2 219532839 219532839 single base substitution G A stop_gained R84* 250C>T MELA-AU 2 219532839 219532839 single base substitution G A upstream_gene_variant MELA-AU 2 219533122 219533122 single base substitution G A exon_variant MELA-AU 2 219533122 219533122 single base substitution G A intron_variant MELA-AU 2 219533122 219533122 single base substitution G A upstream_gene_variant MELA-AU 2 219533236 219533236 single base substitution T G exon_variant MELA-AU 2 219533236 219533236 single base substitution T G intron_variant MELA-AU 2 219533236 219533236 single base substitution T G upstream_gene_variant MELA-AU 2 219533658 219533659 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 219533658 219533659 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 219534819 219534819 single base substitution G A intron_variant MELA-AU 2 219534819 219534819 single base substitution G A upstream_gene_variant MELA-AU 2 219535481 219535481 single base substitution A C intron_variant MELA-AU 2 219535481 219535481 single base substitution A C upstream_gene_variant MELA-AU 2 219535617 219535617 single base substitution C T intron_variant MELA-AU 2 219535617 219535617 single base substitution C T upstream_gene_variant MELA-AU 2 219535633 219535633 single base substitution C A intron_variant MELA-AU 2 219535633 219535633 single base substitution C A upstream_gene_variant MELA-AU 2 219536245 219536245 single base substitution G A intron_variant MELA-AU 2 219536245 219536245 single base substitution G A upstream_gene_variant MELA-AU 2 219536703 219536703 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 2 219536703 219536703 single base substitution G A exon_variant MELA-AU 2 219536703 219536703 single base substitution G A upstream_gene_variant MELA-AU 2 219536721 219536721 single base substitution G A 5_prime_UTR_variant MELA-AU 2 219536721 219536721 single base substitution G A upstream_gene_variant MELA-AU 2 219536735 219536735 single base substitution G A 5_prime_UTR_variant MELA-AU 2 219536735 219536735 single base substitution G A upstream_gene_variant MELA-AU 2 219536904 219536904 single base substitution C T 5_prime_UTR_variant MELA-AU 2 219536904 219536904 single base substitution C T upstream_gene_variant MELA-AU 2 219537450 219537450 single base substitution C T upstream_gene_variant MELA-AU 2 219537801 219537801 single base substitution A G upstream_gene_variant MELA-AU 2 219539061 219539061 single base substitution C T upstream_gene_variant MELA-AU 2 219539367 219539367 single base substitution C T upstream_gene_variant MELA-AU 2 219540044 219540044 single base substitution C T upstream_gene_variant MELA-AU 2 219540155 219540156 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 219540720 219540720 single base substitution C T upstream_gene_variant MELA-AU 2 219540731 219540731 single base substitution C T upstream_gene_variant MELA-AU 2 219540912 219540912 single base substitution C T upstream_gene_variant MELA-AU 2 219541747 219541747 single base substitution C T upstream_gene_variant ORCA-IN 2 219524904 219524904 single base substitution G A downstream_gene_variant ORCA-IN 2 219525861 219525861 single base substitution C A downstream_gene_variant OV-AU 2 219524810 219524810 single base substitution A C downstream_gene_variant OV-AU 2 219524864 219524864 single base substitution G C downstream_gene_variant OV-AU 2 219529734 219529734 single base substitution C T downstream_gene_variant OV-AU 2 219529734 219529734 single base substitution C T intron_variant OV-AU 2 219529734 219529734 single base substitution C T upstream_gene_variant OV-AU 2 219538799 219538799 single base substitution A T upstream_gene_variant OV-AU 2 219540120 219540120 single base substitution C T upstream_gene_variant PACA-AU 2 219523868 219523868 single base substitution T C downstream_gene_variant PACA-AU 2 219525683 219525683 single base substitution C T downstream_gene_variant PACA-AU 2 219526222 219526222 single base substitution G A downstream_gene_variant PACA-AU 2 219527252 219527252 single base substitution C G downstream_gene_variant PACA-AU 2 219531168 219531168 single base substitution T G intron_variant PACA-AU 2 219531168 219531168 single base substitution T G upstream_gene_variant PACA-AU 2 219533127 219533127 single base substitution T G exon_variant PACA-AU 2 219533127 219533127 single base substitution T G intron_variant PACA-AU 2 219533127 219533127 single base substitution T G upstream_gene_variant PACA-AU 2 219536982 219536982 single base substitution A G 5_prime_UTR_variant PACA-AU 2 219536982 219536982 single base substitution A G upstream_gene_variant PACA-AU 2 219537617 219537617 single base substitution G A upstream_gene_variant PACA-AU 2 219538446 219538446 single base substitution C T upstream_gene_variant PACA-CA 2 219525971 219525971 single base substitution G C downstream_gene_variant PACA-CA 2 219526332 219526332 single base substitution T C downstream_gene_variant PACA-CA 2 219526452 219526452 single base substitution A G downstream_gene_variant PACA-CA 2 219527303 219527303 single base substitution G A downstream_gene_variant PACA-CA 2 219528360 219528367 deletion of <=200bp ACAGGCAT - downstream_gene_variant PACA-CA 2 219536006 219536006 single base substitution T C intron_variant PACA-CA 2 219536006 219536006 single base substitution T C upstream_gene_variant PACA-CA 2 219536684 219536684 single base substitution A T exon_variant PACA-CA 2 219536684 219536684 single base substitution A T missense_variant S4T 10T>A PACA-CA 2 219536684 219536684 single base substitution A T upstream_gene_variant PACA-CA 2 219538412 219538412 single base substitution G A upstream_gene_variant PACA-CA 2 219538433 219538433 single base substitution G A upstream_gene_variant PACA-CA 2 219540031 219540031 insertion of <=200bp - T upstream_gene_variant PAEN-AU 2 219533994 219533994 single base substitution A C intron_variant PAEN-AU 2 219533994 219533994 single base substitution A C upstream_gene_variant PAEN-IT 2 219538433 219538433 single base substitution G A upstream_gene_variant PBCA-DE 2 219525979 219525979 single base substitution G A downstream_gene_variant PBCA-DE 2 219531372 219531372 single base substitution T G intron_variant PBCA-DE 2 219531372 219531372 single base substitution T G upstream_gene_variant PBCA-DE 2 219532097 219532097 single base substitution T C intron_variant PBCA-DE 2 219532097 219532097 single base substitution T C upstream_gene_variant PRAD-US 2 219525928 219525928 single base substitution G A downstream_gene_variant PRAD-US 2 219538385 219538385 single base substitution C T upstream_gene_variant RECA-EU 2 219525578 219525578 single base substitution A T downstream_gene_variant RECA-EU 2 219538388 219538388 single base substitution A G upstream_gene_variant SKCA-BR 2 219524453 219524453 single base substitution A T downstream_gene_variant SKCA-BR 2 219524773 219524773 single base substitution A G downstream_gene_variant SKCA-BR 2 219530316 219530316 single base substitution A G downstream_gene_variant SKCA-BR 2 219530316 219530316 single base substitution A G intron_variant SKCA-BR 2 219530316 219530316 single base substitution A G upstream_gene_variant SKCA-BR 2 219530714 219530714 single base substitution G A exon_variant SKCA-BR 2 219530714 219530714 single base substitution G A synonymous_variant I166I 498C>T SKCA-BR 2 219530714 219530714 single base substitution G A upstream_gene_variant SKCA-BR 2 219536489 219536489 single base substitution A C intron_variant SKCA-BR 2 219536489 219536489 single base substitution A C upstream_gene_variant SKCA-BR 2 219536504 219536504 single base substitution A C intron_variant SKCA-BR 2 219536504 219536504 single base substitution A C upstream_gene_variant SKCA-BR 2 219537443 219537443 single base substitution C T upstream_gene_variant SKCA-BR 2 219541430 219541430 single base substitution G A upstream_gene_variant SKCA-BR 2 219542066 219542066 single base substitution C T upstream_gene_variant SKCM-US 2 219525750 219525750 single base substitution C T downstream_gene_variant SKCM-US 2 219525811 219525811 single base substitution A G downstream_gene_variant SKCM-US 2 219525825 219525825 single base substitution G A downstream_gene_variant SKCM-US 2 219525914 219525914 single base substitution C T downstream_gene_variant SKCM-US 2 219525985 219525985 single base substitution C T downstream_gene_variant SKCM-US 2 219528027 219528027 single base substitution C T downstream_gene_variant SKCM-US 2 219528774 219528774 single base substitution C T downstream_gene_variant SKCM-US 2 219528774 219528774 single base substitution C T exon_variant SKCM-US 2 219528774 219528774 single base substitution C T missense_variant G429D 1286G>A SKCM-US 2 219528914 219528914 single base substitution G A downstream_gene_variant SKCM-US 2 219528914 219528914 single base substitution G A exon_variant SKCM-US 2 219528914 219528914 single base substitution G A synonymous_variant P382P 1146C>T SKCM-US 2 219528925 219528925 single base substitution G A downstream_gene_variant SKCM-US 2 219528925 219528925 single base substitution G A exon_variant SKCM-US 2 219528925 219528925 single base substitution G A missense_variant L379F 1135C>T SKCM-US 2 219529154 219529154 single base substitution G A downstream_gene_variant SKCM-US 2 219529154 219529154 single base substitution G A exon_variant SKCM-US 2 219529154 219529154 single base substitution G A synonymous_variant S302S 906C>T SKCM-US 2 219529185 219529185 single base substitution G A downstream_gene_variant SKCM-US 2 219529185 219529185 single base substitution G A exon_variant SKCM-US 2 219529185 219529185 single base substitution G A missense_variant A292V 875C>T SKCM-US 2 219530920 219530920 single base substitution G A exon_variant SKCM-US 2 219530920 219530920 single base substitution G A missense_variant P131S 391C>T SKCM-US 2 219530920 219530920 single base substitution G A upstream_gene_variant SKCM-US 2 219532830 219532830 single base substitution G A exon_variant SKCM-US 2 219532830 219532830 single base substitution G A stop_gained R87* 259C>T SKCM-US 2 219532830 219532830 single base substitution G A upstream_gene_variant SKCM-US 2 219538350 219538350 single base substitution C T upstream_gene_variant SKCM-US 2 219538446 219538446 single base substitution C T upstream_gene_variant SKCM-US 2 219538675 219538675 single base substitution A G upstream_gene_variant STAD-US 2 219526163 219526163 single base substitution C T downstream_gene_variant STAD-US 2 219526551 219526551 single base substitution G A downstream_gene_variant STAD-US 2 219527931 219527931 single base substitution T C downstream_gene_variant STAD-US 2 219528796 219528796 single base substitution G T downstream_gene_variant STAD-US 2 219528796 219528796 single base substitution G T exon_variant STAD-US 2 219528796 219528796 single base substitution G T missense_variant R422S 1264C>A STAD-US 2 219528910 219528910 single base substitution C T downstream_gene_variant STAD-US 2 219528910 219528910 single base substitution C T exon_variant STAD-US 2 219528910 219528910 single base substitution C T missense_variant D384N 1150G>A STAD-US 2 219528942 219528942 single base substitution G A downstream_gene_variant STAD-US 2 219528942 219528942 single base substitution G A exon_variant STAD-US 2 219528942 219528942 single base substitution G A missense_variant P373L 1118C>T STAD-US 2 219528977 219528977 single base substitution G A downstream_gene_variant STAD-US 2 219528977 219528977 single base substitution G A exon_variant STAD-US 2 219528977 219528977 single base substitution G A synonymous_variant H361H 1083C>T STAD-US 2 219529010 219529010 single base substitution G A downstream_gene_variant STAD-US 2 219529010 219529010 single base substitution G A exon_variant STAD-US 2 219529010 219529010 single base substitution G A synonymous_variant P350P 1050C>T STAD-US 2 219529162 219529162 single base substitution C T downstream_gene_variant STAD-US 2 219529162 219529162 single base substitution C T exon_variant STAD-US 2 219529162 219529162 single base substitution C T missense_variant V300I 898G>A STAD-US 2 219529239 219529239 single base substitution G T downstream_gene_variant STAD-US 2 219529239 219529239 single base substitution G T exon_variant STAD-US 2 219529239 219529239 single base substitution G T missense_variant P274H 821C>A STAD-US 2 219529514 219529514 insertion of <=200bp - C downstream_gene_variant STAD-US 2 219529514 219529514 insertion of <=200bp - C exon_variant STAD-US 2 219529514 219529514 insertion of <=200bp - C frameshift_variant G250G? STAD-US 2 219529554 219529554 single base substitution C G downstream_gene_variant STAD-US 2 219529554 219529554 single base substitution C G exon_variant STAD-US 2 219529554 219529554 single base substitution C G missense_variant E237Q 709G>C STAD-US 2 219529955 219529955 single base substitution G A 3_prime_UTR_variant STAD-US 2 219529955 219529955 single base substitution G A downstream_gene_variant STAD-US 2 219529955 219529955 single base substitution G A exon_variant STAD-US 2 219529955 219529955 single base substitution G A stop_gained Q197* 589C>T STAD-US 2 219529955 219529955 single base substitution G A upstream_gene_variant STAD-US 2 219529962 219529962 single base substitution G A 3_prime_UTR_variant STAD-US 2 219529962 219529962 single base substitution G A downstream_gene_variant STAD-US 2 219529962 219529962 single base substitution G A exon_variant STAD-US 2 219529962 219529962 single base substitution G A synonymous_variant V194V 582C>T STAD-US 2 219529962 219529962 single base substitution G A upstream_gene_variant STAD-US 2 219530916 219530916 single base substitution T C exon_variant STAD-US 2 219530916 219530916 single base substitution T C missense_variant H132R 395A>G STAD-US 2 219530916 219530916 single base substitution T C upstream_gene_variant STAD-US 2 219532655 219532655 single base substitution T C exon_variant STAD-US 2 219532655 219532655 single base substitution T C missense_variant M113V 337A>G STAD-US 2 219532655 219532655 single base substitution T C upstream_gene_variant UCEC-US 2 219525887 219525887 single base substitution C T downstream_gene_variant UCEC-US 2 219526239 219526239 single base substitution G A downstream_gene_variant UCEC-US 2 219526620 219526620 single base substitution G A downstream_gene_variant UCEC-US 2 219526921 219526921 single base substitution C T downstream_gene_variant UCEC-US 2 219529490 219529490 single base substitution C T downstream_gene_variant UCEC-US 2 219529490 219529490 single base substitution C T exon_variant UCEC-US 2 219529490 219529490 single base substitution C T missense_variant R258Q 773G>A UCEC-US 2 219537620 219537620 single base substitution G T upstream_gene_variant UCEC-US 2 219540175 219540175 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HN_00761 COSM125900 c.769G>C p.E257Q Substitution - Missense 2:218664771-218664771 - ATL033 COSM5708075 c.31G>C p.E11Q Substitution - Missense 2:218671940-218671940 - PCSI_0081_Pa_X COSM3380041 c.10T>A p.S4T Substitution - Missense 2:218671961-218671961 - TCGA-BR-A4QL-01 COSM4091503 c.898G>A p.V300I Substitution - Missense 2:218664439-218664439 - TCGA-AZ-4313-01 COSM3043889 c.875_877delCAG p.A292delA Deletion - In frame 2:218664460-218664462 - Br27P COSM40554 c.1239G>A p.R413R Substitution - coding silent 2:218664098-218664098 - T3535 COSM4614202 c.1020delC p.K341fs*45 Deletion - Frameshift 2:218664317-218664317 - TCGA-NH-A5IV-01 COSM5183458 c.759C>T p.D253D Substitution - coding silent 2:218664781-218664781 - 3844_T COSM3962397 c.797A>T p.Q266L Substitution - Missense 2:218664743-218664743 - LUAD-E00443 COSM363911 c.754A>G p.I252V Substitution - Missense 2:218664786-218664786 - TCGA-BR-6452-01 COSM4091498 c.1264C>A p.R422S Substitution - Missense 2:218664073-218664073 - 587342 COSM1180900 c.1135delC p.L379fs*7 Deletion - Frameshift 2:218664202-218664202 - NB-1246 COSM1287666 c.643G>T p.A215S Substitution - Missense 2:218665178-218665178 - TCGA-AA-A01Q-01 COSM287303 c.749_750insG p.I251fs*3 Insertion - Frameshift 2:218664790-218664791 - TCGA-HU-A4GT-01 COSM4091508 c.395A>G p.H132R Substitution - Missense 2:218666193-218666193 - TCGA-33-6737-01 COSM719974 c.342G>A p.L114L Substitution - coding silent 2:218667927-218667927 - SC_9096 COSM5565996 c.1264C>T p.R422C Substitution - Missense 2:218664073-218664073 - TCGA-D5-6540-01 COSM287303 c.749_750insG p.I251fs*3 Insertion - Frameshift 2:218664790-218664791 - HCC2998 COSM1669758 c.488C>T p.A163V Substitution - Missense 2:218666001-218666001 - TCGA-BR-8360-01 COSM4091502 c.1050C>T p.P350P Substitution - coding silent 2:218664287-218664287 - 587238 COSM1223991 c.697C>T p.R233C Substitution - Missense 2:218664843-218664843 - TCGA-EE-A29S-06 COSM3577768 c.1146C>T p.P382P Substitution - coding silent 2:218664191-218664191 - T2944 COSM1405501 c.749delG p.G250fs*29 Deletion - Frameshift 2:218664791-218664791 - TCGA-HU-A4H6-01 COSM4091505 c.709G>C p.E237Q Substitution - Missense 2:218664831-218664831 - CLL148 COSM1291441 c.1333G>C p.G445R Substitution - Missense 2:218664004-218664004 - 1604875 COSM141018 c.1031G>A p.R344Q Substitution - Missense 2:218664306-218664306 - TCGA-EE-A2GN-06 COSM3577772 c.391C>T p.P131S Substitution - Missense 2:218666197-218666197 - C99 COSM4620426 c.409A>G p.I137V Substitution - Missense 2:218666179-218666179 - T3094 COSM4722175 c.932C>T p.A311V Substitution - Missense 2:218664405-218664405 - TCGA-AA-3715-01 COSM1405501 c.749delG p.G250fs*29 Deletion - Frameshift 2:218664791-218664791 - LOVO COSM1405501 c.749delG p.G250fs*29 Deletion - Frameshift 2:218664791-218664791 - TCGA-DM-A1D0-01 COSM1016458 c.773G>A p.R258Q Substitution - Missense 2:218664767-218664767 - TCGA-ER-A19P-06 COSM3577771 c.875C>T p.A292V Substitution - Missense 2:218664462-218664462 - BHY COSM4592875 c.1285G>A p.G429S Substitution - Missense 2:218664052-218664052 - TCGA-EE-A2GD-06 COSM3577767 c.1286G>A p.G429D Substitution - Missense 2:218664051-218664051 - 587332 COSM1223993 c.968G>T p.R323M Substitution - Missense 2:218664369-218664369 - CRC-02T COSM5454978 c.1314C>A p.G438G Substitution - coding silent 2:218664023-218664023 - TCGA-BR-4184-01 COSM4091499 c.1150G>A p.D384N Substitution - Missense 2:218664187-218664187 - TCGA-BR-6452-01 COSM4091500 c.1118C>T p.P373L Substitution - Missense 2:218664219-218664219 - TCGA-FI-A2EX-01 COSM1016458 c.773G>A p.R258Q Substitution - Missense 2:218664767-218664767 - HCC2998 COSM1669758 c.488C>T p.A163V Substitution - Missense 2:218666001-218666001 - T578 COSM4722174 c.1310G>A p.R437Q Substitution - Missense 2:218664027-218664027 - TCGA-FS-A1Z3-06 COSM3577769 c.1135C>T p.L379F Substitution - Missense 2:218664202-218664202 - TCGA-DK-A1A3-01 COSM418868 c.1064C>G p.P355R Substitution - Missense 2:218664273-218664273 - J80_T COSM3962398 c.41+6T>A p.? Unknown 2:218671924-218671924 - TCGA-B5-A0K9-01 COSM1016457 c.801+1G>A p.? Unknown 2:218664738-218664738 - cSCCP7 COSM139432 c.1327C>T p.R443W Substitution - Missense 2:218664010-218664010 - SA228 COSM214074 c.1100G>A p.R367H Substitution - Missense 2:218664237-218664237 - HCA7 COSM4630710 c.778C>T p.R260* Substitution - Nonsense 2:218664762-218664762 - TCGA-ER-A19P-06 COSM3577770 c.906C>T p.S302S Substitution - coding silent 2:218664431-218664431 - TCGA-23-1028-01 COSM117226 c.1237A>G p.R413G Substitution - Missense 2:218664100-218664100 - PT49 COSM476924 c.257C>T p.P86L Substitution - Missense 2:218668109-218668109 - TCGA-B0-4811-01 COSM476923 c.288-2A>G p.? Unknown 2:218667983-218667983 - TCGA-ER-A1A1-06 COSM3577773 c.259C>T p.R87* Substitution - Nonsense 2:218668107-218668107 - TCGA-G4-6628-01 COSM1405501 c.749delG p.G250fs*29 Deletion - Frameshift 2:218664791-218664791 - TCGA-G2-A2EO-01 COSM1306431 c.205C>T p.Q69* Substitution - Nonsense 2:218668253-218668253 - ESO-083 COSM1264395 c.1209T>G p.P403P Substitution - coding silent 2:218664128-218664128 - TCGA-F1-6874-01 COSM4091506 c.589C>T p.Q197* Substitution - Nonsense 2:218665232-218665232 - TCGA-D1-A0ZQ-01 COSM1016456 c.1330C>A p.P444T Substitution - Missense 2:218664007-218664007 - T3724 COSM4722176 c.251G>A p.R84Q Substitution - Missense 2:218668115-218668115 - PCSI_0081_Pa_P_526 COSM3380041 c.10T>A p.S4T Substitution - Missense 2:218671961-218671961 - TCGA-CK-5916-01 COSM214074 c.1100G>A p.R367H Substitution - Missense 2:218664237-218664237 - LUAD-YINHD COSM350568 c.741G>C p.E247D Substitution - Missense 2:218664799-218664799 - BN32 COSM1614368 c.526C>G p.Q176E Substitution - Missense 2:218665963-218665963 - BN32T COSM1614368 c.526C>G p.Q176E Substitution - Missense 2:218665963-218665963 - TCGA-AB-2923-03 COSM1318107 c.49C>A p.P17T Substitution - Missense 2:218668672-218668672 - TCGA-CG-4305-01 COSM4091504 c.821C>A p.P274H Substitution - Missense 2:218664516-218664516 - TCGA-PJ-A5Z9-01 COSM3991069 c.9G>C p.A3A Substitution - coding silent 2:218671962-218671962 - TCGA-04-1338-01 COSM78428 c.914C>T p.P305L Substitution - Missense 2:218664423-218664423 - T3094 COSM247078 c.822T>C p.P274P Substitution - coding silent 2:218664515-218664515 - PD8619a COSM5797324 c.1233C>A p.P411P Substitution - coding silent 2:218664104-218664104 - TCGA-CG-4442-01 COSM4091501 c.1083C>T p.H361H Substitution - coding silent 2:218664254-218664254 - TCGA-BS-A0TJ-01 COSM1016459 c.287C>T p.T96M Substitution - Missense 2:218668079-218668079 - LOVO COSM4614202 c.1020delC p.K341fs*45 Deletion - Frameshift 2:218664317-218664317 - 587224 COSM1223992 c.268T>A p.S90T Substitution - Missense 2:218668098-218668098 - Pat_60_A COSM5861779 c.803C>T p.P268L Substitution - Missense 2:218664534-218664534 - TCGA-CZ-5458-01 COSM476924 c.257C>T p.P86L Substitution - Missense 2:218668109-218668109 - PCA78-2 COSM5415560 c.106G>A p.G36R Substitution - Missense 2:218668615-218668615 - TCGA-F4-6570-01 COSM1405501 c.749delG p.G250fs*29 Deletion - Frameshift 2:218664791-218664791 - HN_62686 COSM121761 c.681C>A p.P227P Substitution - coding silent 2:218664859-218664859 - TCGA-CZ-5468-01 COSM3364578 c.671T>C p.L224P Substitution - Missense 2:218664869-218664869 - TCGA-DM-A28M-01 COSM3695270 c.287+1G>A p.? Unknown 2:218668078-218668078 - P07-360 COSM247078 c.822T>C p.P274P Substitution - coding silent 2:218664515-218664515 - PT49 COSM5934596 c.256C>T p.P86S Substitution - Missense 2:218668110-218668110 - BD55T COSM5509330 c.88G>T p.E30* Substitution - Nonsense 2:218668633-218668633 - TCGA-CG-4306-01 COSM4091509 c.337A>G p.M113V Substitution - Missense 2:218667932-218667932 - TCGA-A4-A6HP-01 COSM3991068 c.815C>T p.A272V Substitution - Missense 2:218664522-218664522 - 385 COSM3723396 c.616G>A p.V206M Substitution - Missense 2:218665205-218665205 - TCGA-BR-4361-01 COSM4091507 c.582C>T p.V194V Substitution - coding silent 2:218665239-218665239 - TCGA-AA-3844-01 COSM295298 c.844A>G p.K282E Substitution - Missense 2:218664493-218664493 - Pat_63_B COSM5861780 c.667-1G>A p.? Unknown 2:218664874-218664874 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.471403 2q35 2413895|CGAP|BC015612|G/T|coding|Glu172Asp|520|Candidate; 1528475|dbSNP|BC015612|A/G|non-coding||1436|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.P403P c.1209T>G 2 219528851 ESCA A G Missense p.L224P c.671T>C 2 219529592 RCCC C A Missense p.A215S c.643G>T 2 219529901 NB C A Nonsense p.E257* c.769G>T 2 219529494 LUAD C G Missense p.E257Q c.769G>C 2 219529494 HNSC C G Missense p.G445R c.1333G>C 2 219528727 CLL C T Missense p.E400K c.1198G>A 2 219528862 LUAD C T Missense p.G429D c.1286G>A 2 219528774 CM C T Missense p.R258Q c.773G>A 2 219529490 UCEC C T Missense p.R367H c.1100G>A 2 219528960 BRCA C T Missense p.V206M c.616G>A 2 219529928 HNSC G A 5-UTRSNV . c.1-28C>T 2 219536721 CM G A IntronicSNV . c.117-124C>T 2 219533188 CM G A IntronicSNV . c.42-899C>T 2 219534301 CLL G A Missense p.A292V c.875C>T 2 219529185 CM G A Missense p.L379F c.1135C>T 2 219528925 CM G A Missense p.P131S c.391C>T 2 219530920 CM G A Missense p.P305L c.914C>T 2 219529146 OV G A Missense p.P86L c.257C>T 2 219532832 RCCC G A Missense p.R447W c.1339C>T 2 219528721 HNSC G A Nonsense p.Q197* c.589C>T 2 219529955 STAD G A Nonsense p.Q69* c.205C>T 2 219532976 BLCA G A Synonymous p.P382P c.1146C>T 2 219528914 CM G A Synonymous p.R413R c.1239G>A 2 219528821 GBM G A Synonymous p.S302S c.906C>T 2 219529154 CM G C Missense p.P320A c.958C>G 2 219529102 LUAD G C Missense p.P355R c.1064C>G 2 219528996 BLCA G T Missense p.P17T c.49C>A 2 219533395 AML G T Missense p.P274H c.821C>A 2 219529239 STAD G T Synonymous p.P227P c.681C>A 2 219529582 HNSC T C Missense p.K282E c.844A>G 2 219529216 COREAD T C Missense p.M113V c.337A>G 2 219532655 STAD T C Missense p.M336V c.1006A>G 2 219529054 CM T C Missense p.R413G c.1237A>G 2 219528823 OV T C SpliceAcceptorSNV . c.288-2A>G 2 219532706 RCCC T C Synonymous p.G250G c.750A>G 2 219529513 STAD T G Missense p.E183A c.548A>C 2 219530664 COREAD