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 3 196083630 196083630 + Missense_Mutation SNP G G C TCGA-FD-A6TF-01A-52D-A32B-08 TCGA-FD-A6TF-10A-21D-A329-08 g.chr3:196083630G>C c.1396C>G c.(1396-1398)Ctg>Gtg p.L466V BLCA 3 196088762 196088762 + Missense_Mutation SNP C C G TCGA-FD-A62O-01A-11D-A30E-08 TCGA-FD-A62O-10A-01D-A30H-08 g.chr3:196088762C>G c.1261G>C c.(1261-1263)Gat>Cat p.D421H BLCA 3 196089367 196089367 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 g.chr3:196089367C>T c.1026G>A c.(1024-1026)gaG>gaA p.E342E BLCA 3 196089511 196089511 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 g.chr3:196089511G>C c.882C>G c.(880-882)atC>atG p.I294M BLCA 3 196095002 196095002 + Missense_Mutation SNP T T C TCGA-2F-A9KW-01A-11D-A38G-08 TCGA-2F-A9KW-10A-01D-A38J-08 g.chr3:196095002T>C c.731A>G c.(730-732)cAg>cGg p.Q244R BLCA 3 196118708 196118708 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 g.chr3:196118708C>G c.444G>C c.(442-444)ttG>ttC p.L148F BRCA 3 196088738 196088738 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 g.chr3:196088738G>C c.1285C>G c.(1285-1287)Ctt>Gtt p.L429V BRCA 3 196088786 196088786 + Missense_Mutation SNP C C G TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 g.chr3:196088786C>G c.1237G>C c.(1237-1239)Gca>Cca p.A413P BRCA 3 196089178 196089178 + Silent SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:196089178C>T c.1215G>A c.(1213-1215)ggG>ggA p.G405G BRCA 3 196096354 196096354 + Missense_Mutation SNP C C G TCGA-OL-A5DA-01A-11D-A27P-09 TCGA-OL-A5DA-10A-01D-A27P-09 g.chr3:196096354C>G c.644G>C c.(643-645)aGa>aCa p.R215T CESC 3 196088738 196088738 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr3:196088738G>A c.1285C>T c.(1285-1287)Ctt>Ttt p.L429F COAD 3 196089294 196089294 + Missense_Mutation SNP T T C TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr3:196089294T>C c.1099A>G c.(1099-1101)Act>Gct p.T367A COAD 3 196089442 196089442 + Missense_Mutation SNP T T G TCGA-AA-A02O-01A-21W-A096-10 TCGA-AA-A02O-11A-11W-A096-10 g.chr3:196089442T>G c.951A>C c.(949-951)gaA>gaC p.E317D COAD 3 196094916 196094917 + Frame_Shift_Ins INS - - G TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr3:196094916_196094917insG c.816_817insC c.(814-819)cccaaafs p.K273fs COAD 3 196094995 196094995 + Silent SNP A A G TCGA-CM-5860-01A-01D-1650-10 TCGA-CM-5860-10A-01D-1650-10 g.chr3:196094995A>G c.738T>C c.(736-738)gaT>gaC p.D246D COAD 3 196096307 196096307 + Silent SNP A A G TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr3:196096307A>G c.691T>C c.(691-693)Ttg>Ctg p.L231L COAD 3 196118687 196118687 + Silent SNP T T C TCGA-AZ-5403-01A-01D-1650-10 TCGA-AZ-5403-10A-01D-1650-10 g.chr3:196118687T>C c.465A>G c.(463-465)gaA>gaG p.E155E COAD 3 196118689 196118689 + Missense_Mutation SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr3:196118689C>T c.463G>A c.(463-465)Gaa>Aaa p.E155K COAD 3 196118689 196118689 + Nonsense_Mutation SNP C C A TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr3:196118689C>A c.463G>T c.(463-465)Gaa>Taa p.E155* COAD 3 196118794 196118794 + Missense_Mutation SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr3:196118794G>A c.358C>T c.(358-360)Cgg>Tgg p.R120W COAD 3 196134257 196134257 + Silent SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:196134257A>G c.81T>C c.(79-81)agT>agC p.S27S COADREAD 3 196088743 196088743 + Missense_Mutation SNP A A T TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr3:196088743A>T c.1280T>A c.(1279-1281)aTc>aAc p.I427N COADREAD 3 196089294 196089294 + Missense_Mutation SNP T T C TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr3:196089294T>C c.1099A>G c.(1099-1101)Act>Gct p.T367A COADREAD 3 196089442 196089442 + Missense_Mutation SNP T T G TCGA-AA-A02O-01A-21W-A096-10 TCGA-AA-A02O-11A-11W-A096-10 g.chr3:196089442T>G c.951A>C c.(949-951)gaA>gaC p.E317D COADREAD 3 196094916 196094917 + Frame_Shift_Ins INS - - G TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr3:196094916_196094917insG c.816_817insC c.(814-819)cccaaafs p.K273fs COADREAD 3 196094995 196094995 + Silent SNP A A G TCGA-CM-5860-01A-01D-1650-10 TCGA-CM-5860-10A-01D-1650-10 g.chr3:196094995A>G c.738T>C c.(736-738)gaT>gaC p.D246D COADREAD 3 196096307 196096307 + Silent SNP A A G TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr3:196096307A>G c.691T>C c.(691-693)Ttg>Ctg p.L231L COADREAD 3 196118687 196118687 + Silent SNP T T C TCGA-AZ-5403-01A-01D-1650-10 TCGA-AZ-5403-10A-01D-1650-10 g.chr3:196118687T>C c.465A>G c.(463-465)gaA>gaG p.E155E COADREAD 3 196118689 196118689 + Missense_Mutation SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr3:196118689C>T c.463G>A c.(463-465)Gaa>Aaa p.E155K COADREAD 3 196118689 196118689 + Nonsense_Mutation SNP C C A TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr3:196118689C>A c.463G>T c.(463-465)Gaa>Taa p.E155* COADREAD 3 196118794 196118794 + Missense_Mutation SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr3:196118794G>A c.358C>T c.(358-360)Cgg>Tgg p.R120W COADREAD 3 196134247 196134247 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:196134247C>A c.91G>T c.(91-93)Gga>Tga p.G31* COADREAD 3 196134257 196134257 + Silent SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:196134257A>G c.81T>C c.(79-81)agT>agC p.S27S ESCA 3 196089199 196089199 + Frame_Shift_Del DEL T T - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr3:196089199delT c.1194delA c.(1192-1194)aaafs p.K398fs GBMLGG 3 196089299 196089299 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:196089299G>A c.1094C>T c.(1093-1095)cCg>cTg p.P365L GBMLGG 3 196094958 196094958 + Missense_Mutation SNP C C T TCGA-DH-5140-01A-01D-1468-08 TCGA-DH-5140-10A-01D-1468-08 g.chr3:196094958C>T c.775G>A c.(775-777)Ggt>Agt p.G259S GBMLGG 3 196096372 196096372 + Missense_Mutation SNP T T A TCGA-FG-8188-01A-11D-2253-08 TCGA-FG-8188-10A-01D-2253-08 g.chr3:196096372T>A c.626A>T c.(625-627)gAc>gTc p.D209V HNSC 3 196088753 196088753 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr3:196088753delT c.1270delA c.(1270-1272)aggfs p.R424fs HNSC 3 196089375 196089375 + Missense_Mutation SNP C C T TCGA-CQ-A4CB-01A-11D-A25D-08 TCGA-CQ-A4CB-10A-01D-A25E-08 g.chr3:196089375C>T c.1018G>A c.(1018-1020)Gag>Aag p.E340K HNSC 3 196089387 196089387 + Missense_Mutation SNP C C T TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 g.chr3:196089387C>T c.1006G>A c.(1006-1008)Gat>Aat p.D336N HNSC 3 196096339 196096339 + Missense_Mutation SNP T T C TCGA-CV-7245-01A-11D-2012-08 TCGA-CV-7245-10A-01D-2013-08 g.chr3:196096339T>C c.659A>G c.(658-660)tAt>tGt p.Y220C HNSC 3 196098827 196098827 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 g.chr3:196098827G>A c.555C>T c.(553-555)cgC>cgT p.R185R HNSC 3 196120455 196120455 + Missense_Mutation SNP C C G TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 g.chr3:196120455C>G c.325G>C c.(325-327)Gat>Cat p.D109H HNSC 3 196129879 196129879 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 g.chr3:196129879C>T c.233G>A c.(232-234)cGt>cAt p.R78H LGG 3 196089299 196089299 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:196089299G>A c.1094C>T c.(1093-1095)cCg>cTg p.P365L LGG 3 196094958 196094958 + Missense_Mutation SNP C C T TCGA-DH-5140-01A-01D-1468-08 TCGA-DH-5140-10A-01D-1468-08 g.chr3:196094958C>T c.775G>A c.(775-777)Ggt>Agt p.G259S LGG 3 196096372 196096372 + Missense_Mutation SNP T T A TCGA-FG-8188-01A-11D-2253-08 TCGA-FG-8188-10A-01D-2253-08 g.chr3:196096372T>A c.626A>T c.(625-627)gAc>gTc p.D209V LIHC 3 196089423 196089423 + Frame_Shift_Del DEL A A - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr3:196089423delA c.970delT c.(970-972)tctfs p.S324fs LIHC 3 196096315 196096315 + Missense_Mutation SNP A A G TCGA-DD-AACL-01A-11D-A40R-10 TCGA-DD-AACL-10A-01D-A40U-10 g.chr3:196096315A>G c.683T>C c.(682-684)gTt>gCt p.V228A LIHC 3 196134222 196134222 + Frame_Shift_Del DEL T T - TCGA-CC-5264-01A-01D-A12Z-10 TCGA-CC-5264-10A-01D-A12Z-10 g.chr3:196134222delT c.116delA c.(115-117)aacfs p.N41fs LIHC 3 196159225 196159226 + In_Frame_Ins INS - - CCC TCGA-G3-A6UC-01A-21D-A33K-10 TCGA-G3-A6UC-10A-01D-A33K-10 g.chr3:196159225_196159226insCCC c.45_46insGGG c.(43-48)gggtta>gggGGGtta p.15_16insG LUAD 3 196088762 196088762 + Missense_Mutation SNP C C T TCGA-17-Z062-01A-01W-0747-08 TCGA-17-Z062-11A-01W-0747-08 g.chr3:196088762C>T c.1261G>A c.(1261-1263)Gat>Aat p.D421N LUAD 3 196089298 196089298 + Silent SNP C C G TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 g.chr3:196089298C>G c.1095G>C c.(1093-1095)ccG>ccC p.P365P LUAD 3 196089416 196089416 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 g.chr3:196089416C>A c.977G>T c.(976-978)aGt>aTt p.S326I LUAD 3 196094967 196094967 + Missense_Mutation SNP C C G TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 g.chr3:196094967C>G c.766G>C c.(766-768)Gga>Cga p.G256R LUAD 3 196129880 196129880 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr3:196129880G>A c.232C>T c.(232-234)Cgt>Tgt p.R78C LUAD 3 196134245 196134245 + Silent SNP T T G TCGA-86-8673-01A-11D-2393-08 TCGA-86-8673-10A-01D-2393-08 g.chr3:196134245T>G c.93A>C c.(91-93)ggA>ggC p.G31G LUAD 3 196134252 196134252 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 g.chr3:196134252C>T c.86G>A c.(85-87)aGt>aAt p.S29N LUAD 3 196134253 196134253 + Missense_Mutation SNP T T C TCGA-86-8673-01A-11D-2393-08 TCGA-86-8673-10A-01D-2393-08 g.chr3:196134253T>C c.85A>G c.(85-87)Agt>Ggt p.S29G LUAD 3 196134258 196134258 + Missense_Mutation SNP C C T TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr3:196134258C>T c.80G>A c.(79-81)aGt>aAt p.S27N LUAD 3 196134259 196134259 + Missense_Mutation SNP T T A TCGA-86-8673-01A-11D-2393-08 TCGA-86-8673-10A-01D-2393-08 g.chr3:196134259T>A c.79A>T c.(79-81)Agt>Tgt p.S27C LUSC 3 196083658 196083658 + Silent SNP G G T TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 g.chr3:196083658G>T c.1368C>A c.(1366-1368)acC>acA p.T456T LUSC 3 196094906 196094906 + Missense_Mutation SNP G G A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 g.chr3:196094906G>A c.827C>T c.(826-828)gCc>gTc p.A276V LUSC 3 196129834 196129834 + Missense_Mutation SNP G G T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr3:196129834G>T c.278C>A c.(277-279)cCa>cAa p.P93Q OV 3 196094997 196094997 + Missense_Mutation SNP C C A TCGA-13-0884-01B-01W-0494-09 TCGA-13-0884-10A-01W-0494-09 g.chr3:196094997C>A c.736G>T c.(736-738)Gat>Tat p.D246Y OV 3 196118689 196118689 + Missense_Mutation SNP C C G TCGA-13-1410-01A-01W-0492-08 TCGA-13-1410-10A-01W-0493-08 g.chr3:196118689C>G c.463G>C c.(463-465)Gaa>Caa p.E155Q PRAD 3 196089432 196089432 + Nonsense_Mutation SNP C C A TCGA-KC-A7FD-01A-11D-A33T-08 TCGA-KC-A7FD-10A-01D-A33W-08 g.chr3:196089432C>A c.961G>T c.(961-963)Gaa>Taa p.E321* READ 3 196088743 196088743 + Missense_Mutation SNP A A T TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr3:196088743A>T c.1280T>A c.(1279-1281)aTc>aAc p.I427N READ 3 196134247 196134247 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:196134247C>A c.91G>T c.(91-93)Gga>Tga p.G31* SKCM 3 196083597 196083597 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 g.chr3:196083597G>A c.1429C>T c.(1429-1431)Ctt>Ttt p.L477F SKCM 3 196096312 196096312 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr3:196096312G>A c.686C>T c.(685-687)tCc>tTc p.S229F SKCM 3 196098779 196098779 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 g.chr3:196098779G>A c.603C>T c.(601-603)ttC>ttT p.F201F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 3 196069917 196069917 single base substitution C A downstream_gene_variant BRCA-EU 3 196070163 196070163 single base substitution C G downstream_gene_variant BRCA-EU 3 196070394 196070394 single base substitution G A downstream_gene_variant BRCA-EU 3 196072202 196072202 single base substitution A T downstream_gene_variant BRCA-EU 3 196072654 196072654 single base substitution G C downstream_gene_variant BRCA-EU 3 196073897 196073897 single base substitution C G downstream_gene_variant BRCA-EU 3 196073904 196073904 single base substitution C T downstream_gene_variant BRCA-EU 3 196076181 196076181 single base substitution G T 3_prime_UTR_variant BRCA-EU 3 196077075 196077075 single base substitution T C 3_prime_UTR_variant BRCA-EU 3 196077075 196077075 single base substitution T C downstream_gene_variant BRCA-EU 3 196079786 196079786 insertion of <=200bp - A 3_prime_UTR_variant BRCA-EU 3 196079786 196079786 insertion of <=200bp - A downstream_gene_variant BRCA-EU 3 196080058 196080058 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 196080058 196080058 single base substitution G C downstream_gene_variant BRCA-EU 3 196080183 196080183 single base substitution C T 3_prime_UTR_variant BRCA-EU 3 196080183 196080183 single base substitution C T downstream_gene_variant BRCA-EU 3 196082062 196082062 single base substitution C G 3_prime_UTR_variant BRCA-EU 3 196082062 196082062 single base substitution C G downstream_gene_variant BRCA-EU 3 196084655 196084655 single base substitution G A intron_variant BRCA-EU 3 196085450 196085450 single base substitution G C intron_variant BRCA-EU 3 196086219 196086219 single base substitution C G intron_variant BRCA-EU 3 196086631 196086631 single base substitution C G intron_variant BRCA-EU 3 196086879 196086879 single base substitution T G intron_variant BRCA-EU 3 196086880 196086880 single base substitution C T intron_variant BRCA-EU 3 196087020 196087020 single base substitution C G intron_variant BRCA-EU 3 196087730 196087730 deletion of <=200bp A - intron_variant BRCA-EU 3 196087785 196087785 single base substitution G A intron_variant BRCA-EU 3 196087870 196087870 single base substitution G C intron_variant BRCA-EU 3 196089177 196089181 deletion of <=200bp TCCCC - 3_prime_UTR_variant BRCA-EU 3 196089177 196089181 deletion of <=200bp TCCCC - frameshift_variant EGI242 BRCA-EU 3 196089177 196089181 deletion of <=200bp TCCCC - frameshift_variant EGI256 BRCA-EU 3 196089177 196089181 deletion of <=200bp TCCCC - frameshift_variant EGI404 BRCA-EU 3 196090221 196090221 single base substitution G A intron_variant BRCA-EU 3 196090249 196090249 single base substitution C G intron_variant BRCA-EU 3 196090404 196090404 single base substitution G C intron_variant BRCA-EU 3 196091041 196091041 single base substitution G T intron_variant BRCA-EU 3 196091082 196091082 single base substitution A C intron_variant BRCA-EU 3 196091204 196091204 deletion of <=200bp T - intron_variant BRCA-EU 3 196092256 196092256 single base substitution C T intron_variant BRCA-EU 3 196092817 196092817 single base substitution G C intron_variant BRCA-EU 3 196093345 196093346 deletion of <=200bp TA - intron_variant BRCA-EU 3 196097119 196097119 single base substitution G C intron_variant BRCA-EU 3 196097839 196097839 single base substitution G T intron_variant BRCA-EU 3 196099429 196099429 single base substitution T C intron_variant BRCA-EU 3 196099505 196099505 single base substitution G A intron_variant BRCA-EU 3 196101340 196101340 single base substitution G C intron_variant BRCA-EU 3 196102466 196102466 single base substitution G T intron_variant BRCA-EU 3 196102769 196102769 single base substitution G A intron_variant BRCA-EU 3 196104276 196104276 single base substitution C T intron_variant BRCA-EU 3 196105301 196105301 insertion of <=200bp - T intron_variant BRCA-EU 3 196105497 196105497 single base substitution C T intron_variant BRCA-EU 3 196106473 196106473 single base substitution C T intron_variant BRCA-EU 3 196107129 196107129 single base substitution A C intron_variant BRCA-EU 3 196107333 196107333 single base substitution C A intron_variant BRCA-EU 3 196108104 196108104 single base substitution C T intron_variant BRCA-EU 3 196108465 196108465 single base substitution G A intron_variant BRCA-EU 3 196110291 196110291 single base substitution C T intron_variant BRCA-EU 3 196110726 196110726 single base substitution C T intron_variant BRCA-EU 3 196110911 196110911 single base substitution G A intron_variant BRCA-EU 3 196112155 196112155 single base substitution G A intron_variant BRCA-EU 3 196112344 196112344 single base substitution G A intron_variant BRCA-EU 3 196112349 196112349 single base substitution G A intron_variant BRCA-EU 3 196112436 196112436 single base substitution C T intron_variant BRCA-EU 3 196112451 196112451 single base substitution C T intron_variant BRCA-EU 3 196116342 196116342 single base substitution G A downstream_gene_variant BRCA-EU 3 196116342 196116342 single base substitution G A intron_variant BRCA-EU 3 196117282 196117282 single base substitution G C downstream_gene_variant BRCA-EU 3 196117282 196117282 single base substitution G C intron_variant BRCA-EU 3 196117606 196117606 insertion of <=200bp - G downstream_gene_variant BRCA-EU 3 196117606 196117606 insertion of <=200bp - G intron_variant BRCA-EU 3 196118228 196118228 single base substitution G A downstream_gene_variant BRCA-EU 3 196118228 196118228 single base substitution G A intron_variant BRCA-EU 3 196118446 196118446 single base substitution A T downstream_gene_variant BRCA-EU 3 196118446 196118446 single base substitution A T intron_variant BRCA-EU 3 196120292 196120292 single base substitution C G downstream_gene_variant BRCA-EU 3 196120292 196120292 single base substitution C G intron_variant BRCA-EU 3 196121263 196121263 single base substitution C T intron_variant BRCA-EU 3 196122277 196122277 single base substitution C G downstream_gene_variant BRCA-EU 3 196122277 196122277 single base substitution C G intron_variant BRCA-EU 3 196122516 196122516 single base substitution C T downstream_gene_variant BRCA-EU 3 196122516 196122516 single base substitution C T intron_variant BRCA-EU 3 196123203 196123203 single base substitution G A downstream_gene_variant BRCA-EU 3 196123203 196123203 single base substitution G A intron_variant BRCA-EU 3 196123314 196123314 single base substitution G C downstream_gene_variant BRCA-EU 3 196123314 196123314 single base substitution G C intron_variant BRCA-EU 3 196123583 196123583 single base substitution G C downstream_gene_variant BRCA-EU 3 196123583 196123583 single base substitution G C intron_variant BRCA-EU 3 196124343 196124343 single base substitution G A downstream_gene_variant BRCA-EU 3 196124343 196124343 single base substitution G A intron_variant BRCA-EU 3 196124382 196124382 single base substitution G C downstream_gene_variant BRCA-EU 3 196124382 196124382 single base substitution G C intron_variant BRCA-EU 3 196124592 196124592 single base substitution A G downstream_gene_variant BRCA-EU 3 196124592 196124592 single base substitution A G intron_variant BRCA-EU 3 196128699 196128699 single base substitution A G intron_variant BRCA-EU 3 196129582 196129582 single base substitution A G intron_variant BRCA-EU 3 196130474 196130474 insertion of <=200bp - A intron_variant BRCA-EU 3 196130888 196130888 single base substitution G A intron_variant BRCA-EU 3 196131881 196131881 single base substitution C G intron_variant BRCA-EU 3 196132449 196132449 single base substitution G A intron_variant BRCA-EU 3 196132576 196132583 deletion of <=200bp ATTACTAC - intron_variant BRCA-EU 3 196134580 196134580 deletion of <=200bp A - intron_variant BRCA-EU 3 196134586 196134586 single base substitution G A intron_variant BRCA-EU 3 196134588 196134588 single base substitution T A intron_variant BRCA-EU 3 196134616 196134616 single base substitution A G intron_variant BRCA-EU 3 196134922 196134922 single base substitution T A intron_variant BRCA-EU 3 196135654 196135654 single base substitution G T intron_variant BRCA-EU 3 196136098 196136098 single base substitution C G intron_variant BRCA-EU 3 196137362 196137362 single base substitution C T intron_variant BRCA-EU 3 196138441 196138441 single base substitution G A intron_variant BRCA-EU 3 196138583 196138583 single base substitution G A intron_variant BRCA-EU 3 196138961 196138961 single base substitution G A intron_variant BRCA-EU 3 196139245 196139245 insertion of <=200bp - TT intron_variant BRCA-EU 3 196139753 196139753 single base substitution G C intron_variant BRCA-EU 3 196140210 196140210 deletion of <=200bp A - intron_variant BRCA-EU 3 196140284 196140284 single base substitution C G intron_variant BRCA-EU 3 196140836 196140837 deletion of <=200bp AA - intron_variant BRCA-EU 3 196141055 196141055 single base substitution C T intron_variant BRCA-EU 3 196141081 196141081 single base substitution C T intron_variant BRCA-EU 3 196141901 196141901 single base substitution G A intron_variant BRCA-EU 3 196143732 196143732 single base substitution G C intron_variant BRCA-EU 3 196143732 196143732 single base substitution G C upstream_gene_variant BRCA-EU 3 196145536 196145536 single base substitution G A intron_variant BRCA-EU 3 196145536 196145536 single base substitution G A upstream_gene_variant BRCA-EU 3 196145605 196145605 single base substitution A C intron_variant BRCA-EU 3 196145605 196145605 single base substitution A C upstream_gene_variant BRCA-EU 3 196145780 196145780 single base substitution C T intron_variant BRCA-EU 3 196145780 196145780 single base substitution C T upstream_gene_variant BRCA-EU 3 196147035 196147035 deletion of <=200bp T - intron_variant BRCA-EU 3 196147035 196147035 deletion of <=200bp T - upstream_gene_variant BRCA-EU 3 196147289 196147291 deletion of <=200bp CTA - intron_variant BRCA-EU 3 196147289 196147291 deletion of <=200bp CTA - upstream_gene_variant BRCA-EU 3 196147677 196147677 single base substitution C T intron_variant BRCA-EU 3 196147677 196147677 single base substitution C T upstream_gene_variant BRCA-EU 3 196148447 196148447 single base substitution C G intron_variant BRCA-EU 3 196148466 196148466 deletion of <=200bp C - intron_variant BRCA-EU 3 196148466 196148466 insertion of <=200bp - C intron_variant BRCA-EU 3 196148776 196148776 insertion of <=200bp - A intron_variant BRCA-EU 3 196150415 196150416 deletion of <=200bp TG - intron_variant BRCA-EU 3 196151245 196151245 single base substitution C G intron_variant BRCA-EU 3 196152830 196152830 single base substitution G T intron_variant BRCA-EU 3 196153021 196153021 single base substitution G A intron_variant BRCA-EU 3 196154524 196154524 single base substitution G T intron_variant BRCA-EU 3 196154574 196154574 single base substitution G A intron_variant BRCA-EU 3 196156350 196156350 insertion of <=200bp - T intron_variant BRCA-EU 3 196156551 196156551 deletion of <=200bp A - intron_variant BRCA-EU 3 196157264 196157264 deletion of <=200bp T - intron_variant BRCA-EU 3 196157588 196157588 single base substitution A T intron_variant BRCA-EU 3 196158337 196158337 single base substitution C A intron_variant BRCA-EU 3 196158384 196158384 single base substitution C G intron_variant BRCA-EU 3 196161115 196161115 single base substitution G T upstream_gene_variant BRCA-EU 3 196161555 196161555 single base substitution G A upstream_gene_variant BRCA-EU 3 196162498 196162498 single base substitution G A upstream_gene_variant BRCA-FR 3 196072013 196072013 single base substitution C G downstream_gene_variant BRCA-FR 3 196072654 196072654 single base substitution G C downstream_gene_variant BRCA-FR 3 196076181 196076181 single base substitution G T 3_prime_UTR_variant BRCA-FR 3 196085450 196085450 single base substitution G C intron_variant BRCA-FR 3 196094052 196094052 single base substitution T A intron_variant BRCA-FR 3 196099505 196099505 single base substitution G A intron_variant BRCA-FR 3 196101340 196101340 single base substitution G C intron_variant BRCA-FR 3 196102466 196102466 single base substitution G T intron_variant BRCA-FR 3 196102958 196102958 single base substitution T A intron_variant BRCA-FR 3 196106473 196106473 single base substitution C T intron_variant BRCA-FR 3 196110726 196110726 single base substitution C T intron_variant BRCA-FR 3 196110911 196110911 single base substitution G A intron_variant BRCA-FR 3 196138441 196138441 single base substitution G A intron_variant BRCA-FR 3 196138583 196138583 single base substitution G A intron_variant BRCA-FR 3 196143739 196143739 single base substitution G A intron_variant BRCA-FR 3 196143739 196143739 single base substitution G A upstream_gene_variant BRCA-FR 3 196160795 196160795 single base substitution G A upstream_gene_variant BRCA-UK 3 196073904 196073904 single base substitution C T downstream_gene_variant BRCA-UK 3 196098878 196098878 single base substitution C A 3_prime_UTR_variant BRCA-UK 3 196098878 196098878 single base substitution C A synonymous_variant L168L 504G>T BRCA-UK 3 196098878 196098878 single base substitution C A synonymous_variant L20L 60G>T BRCA-UK 3 196098878 196098878 single base substitution C A synonymous_variant L6L 18G>T BRCA-UK 3 196101652 196101652 single base substitution G A intron_variant BRCA-UK 3 196102124 196102124 single base substitution G A intron_variant BRCA-UK 3 196148447 196148447 single base substitution C G intron_variant BRCA-US 3 196088738 196088738 single base substitution G C 3_prime_UTR_variant BRCA-US 3 196088738 196088738 single base substitution G C missense_variant L267V 799C>G BRCA-US 3 196088738 196088738 single base substitution G C missense_variant L281V 841C>G BRCA-US 3 196088738 196088738 single base substitution G C missense_variant L429V 1285C>G BRCA-US 3 196088786 196088786 single base substitution C G 3_prime_UTR_variant BRCA-US 3 196088786 196088786 single base substitution C G missense_variant A251P 751G>C BRCA-US 3 196088786 196088786 single base substitution C G missense_variant A265P 793G>C BRCA-US 3 196088786 196088786 single base substitution C G missense_variant A413P 1237G>C BRCA-US 3 196089178 196089178 single base substitution C T 3_prime_UTR_variant BRCA-US 3 196089178 196089178 single base substitution C T synonymous_variant G243G 729G>A BRCA-US 3 196089178 196089178 single base substitution C T synonymous_variant G257G 771G>A BRCA-US 3 196089178 196089178 single base substitution C T synonymous_variant G405G 1215G>A BRCA-US 3 196096354 196096354 single base substitution C G 3_prime_UTR_variant BRCA-US 3 196096354 196096354 single base substitution C G missense_variant R215T 644G>C BRCA-US 3 196096354 196096354 single base substitution C G missense_variant R53T 158G>C BRCA-US 3 196096354 196096354 single base substitution C G missense_variant R67T 200G>C BTCA-JP 3 196083533 196083533 single base substitution C G 3_prime_UTR_variant BTCA-JP 3 196098733 196098733 single base substitution T C intron_variant BTCA-JP 3 196118617 196118617 single base substitution T G downstream_gene_variant BTCA-JP 3 196118617 196118617 single base substitution T G intron_variant BTCA-JP 3 196129782 196129782 single base substitution G T intron_variant CESC-US 3 196088738 196088738 single base substitution G A 3_prime_UTR_variant CESC-US 3 196088738 196088738 single base substitution G A missense_variant L267F 799C>T CESC-US 3 196088738 196088738 single base substitution G A missense_variant L281F 841C>T CESC-US 3 196088738 196088738 single base substitution G A missense_variant L429F 1285C>T CESC-US 3 196159282 196159282 single base substitution C G 5_prime_UTR_variant CESC-US 3 196159282 196159282 single base substitution C G exon_variant CESC-US 3 196159282 196159282 single base substitution C G upstream_gene_variant CLLE-ES 3 196093856 196093856 single base substitution C A intron_variant CLLE-ES 3 196099369 196099369 single base substitution C T intron_variant CLLE-ES 3 196153869 196153869 single base substitution G C intron_variant CLLE-ES 3 196160322 196160322 single base substitution G A upstream_gene_variant COAD-US 3 196094916 196094916 insertion of <=200bp - G 3_prime_UTR_variant COAD-US 3 196094916 196094916 insertion of <=200bp - G frameshift_variant K111T? COAD-US 3 196094916 196094916 insertion of <=200bp - G frameshift_variant K125T? COAD-US 3 196094916 196094916 insertion of <=200bp - G frameshift_variant K273T? COAD-US 3 196118794 196118794 single base substitution G A downstream_gene_variant COAD-US 3 196118794 196118794 single base substitution G A intron_variant COAD-US 3 196118794 196118794 single base substitution G A missense_variant R120W 358C>T COAD-US 3 196118794 196118794 single base substitution G A missense_variant R97W 289C>T COAD-US 3 196118794 196118794 single base substitution G A splice_region_variant COAD-US 3 196134257 196134257 single base substitution A G 5_prime_UTR_variant COAD-US 3 196134257 196134257 single base substitution A G exon_variant COAD-US 3 196134257 196134257 single base substitution A G intron_variant COAD-US 3 196134257 196134257 single base substitution A G synonymous_variant S26S 78T>C COAD-US 3 196134257 196134257 single base substitution A G synonymous_variant S27S 81T>C COCA-CN 3 196118686 196118686 single base substitution T C downstream_gene_variant COCA-CN 3 196118686 196118686 single base substitution T C intron_variant COCA-CN 3 196118686 196118686 single base substitution T C missense_variant T156A 466A>G COCA-CN 3 196118686 196118686 single base substitution T C missense_variant T8A 22A>G COCA-CN 3 196118686 196118686 single base substitution T C splice_region_variant COCA-CN 3 196118831 196118831 single base substitution A G downstream_gene_variant COCA-CN 3 196118831 196118831 single base substitution A G intron_variant COCA-CN 3 196120298 196120298 single base substitution C T downstream_gene_variant COCA-CN 3 196120298 196120298 single base substitution C T intron_variant COCA-CN 3 196127753 196127753 single base substitution T G intron_variant COCA-CN 3 196129807 196129807 single base substitution A G intron_variant ESAD-UK 3 196073474 196073474 single base substitution G A downstream_gene_variant ESAD-UK 3 196074317 196074317 single base substitution G A downstream_gene_variant ESAD-UK 3 196075417 196075417 single base substitution A C 3_prime_UTR_variant ESAD-UK 3 196076920 196076920 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 196076920 196076920 single base substitution C T downstream_gene_variant ESAD-UK 3 196077779 196077779 single base substitution T A 3_prime_UTR_variant ESAD-UK 3 196077779 196077779 single base substitution T A downstream_gene_variant ESAD-UK 3 196079330 196079330 insertion of <=200bp - TGA 3_prime_UTR_variant ESAD-UK 3 196079330 196079330 insertion of <=200bp - TGA downstream_gene_variant ESAD-UK 3 196079586 196079586 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 196079586 196079586 single base substitution C T downstream_gene_variant ESAD-UK 3 196080357 196080358 deletion of <=200bp TC - 3_prime_UTR_variant ESAD-UK 3 196080357 196080358 deletion of <=200bp TC - downstream_gene_variant ESAD-UK 3 196082411 196082411 single base substitution C G 3_prime_UTR_variant ESAD-UK 3 196082411 196082411 single base substitution C G downstream_gene_variant ESAD-UK 3 196083644 196083644 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 196083644 196083644 single base substitution C T missense_variant R299K 896G>A ESAD-UK 3 196083644 196083644 single base substitution C T missense_variant R313K 938G>A ESAD-UK 3 196083644 196083644 single base substitution C T missense_variant R461K 1382G>A ESAD-UK 3 196087905 196087905 single base substitution G C intron_variant ESAD-UK 3 196088383 196088383 single base substitution C T intron_variant ESAD-UK 3 196088468 196088468 single base substitution C G intron_variant ESAD-UK 3 196090380 196090380 single base substitution A G intron_variant ESAD-UK 3 196091796 196091796 single base substitution C G intron_variant ESAD-UK 3 196093472 196093472 single base substitution A T intron_variant ESAD-UK 3 196094005 196094005 single base substitution G A intron_variant ESAD-UK 3 196094074 196094074 single base substitution A C intron_variant ESAD-UK 3 196097413 196097413 single base substitution G C intron_variant ESAD-UK 3 196097856 196097856 single base substitution C A intron_variant ESAD-UK 3 196099742 196099742 single base substitution G C intron_variant ESAD-UK 3 196102183 196102183 single base substitution T C intron_variant ESAD-UK 3 196103245 196103245 single base substitution C T intron_variant ESAD-UK 3 196104616 196104616 single base substitution C T intron_variant ESAD-UK 3 196107633 196107633 single base substitution G A intron_variant ESAD-UK 3 196112027 196112027 single base substitution C G intron_variant ESAD-UK 3 196112725 196112725 single base substitution G A intron_variant ESAD-UK 3 196113887 196113887 single base substitution A G downstream_gene_variant ESAD-UK 3 196113887 196113887 single base substitution A G intron_variant ESAD-UK 3 196119008 196119008 single base substitution G A downstream_gene_variant ESAD-UK 3 196119008 196119008 single base substitution G A intron_variant ESAD-UK 3 196119943 196119943 single base substitution C A downstream_gene_variant ESAD-UK 3 196119943 196119943 single base substitution C A intron_variant ESAD-UK 3 196120136 196120136 single base substitution G C downstream_gene_variant ESAD-UK 3 196120136 196120136 single base substitution G C intron_variant ESAD-UK 3 196120525 196120525 single base substitution A T intron_variant ESAD-UK 3 196122196 196122196 single base substitution C T downstream_gene_variant ESAD-UK 3 196122196 196122196 single base substitution C T intron_variant ESAD-UK 3 196125980 196125980 single base substitution G A downstream_gene_variant ESAD-UK 3 196125980 196125980 single base substitution G A intron_variant ESAD-UK 3 196128387 196128387 single base substitution A C intron_variant ESAD-UK 3 196130028 196130028 deletion of <=200bp T - intron_variant ESAD-UK 3 196130279 196130279 single base substitution C T intron_variant ESAD-UK 3 196131337 196131337 single base substitution G A intron_variant ESAD-UK 3 196132293 196132293 single base substitution G C intron_variant ESAD-UK 3 196135552 196135552 single base substitution G T intron_variant ESAD-UK 3 196137432 196137432 single base substitution C T intron_variant ESAD-UK 3 196138774 196138774 single base substitution C G intron_variant ESAD-UK 3 196139631 196139631 single base substitution C A intron_variant ESAD-UK 3 196143733 196143733 single base substitution A T intron_variant ESAD-UK 3 196143733 196143733 single base substitution A T upstream_gene_variant ESAD-UK 3 196145707 196145707 single base substitution T C intron_variant ESAD-UK 3 196145707 196145707 single base substitution T C upstream_gene_variant ESAD-UK 3 196152503 196152503 single base substitution A T intron_variant ESAD-UK 3 196152804 196152804 single base substitution T C intron_variant ESAD-UK 3 196153634 196153634 single base substitution G A intron_variant ESAD-UK 3 196154570 196154570 single base substitution T G intron_variant ESAD-UK 3 196154786 196154786 single base substitution T C intron_variant ESAD-UK 3 196157580 196157580 single base substitution C G intron_variant ESAD-UK 3 196162907 196162907 single base substitution G A upstream_gene_variant ESAD-UK 3 196163584 196163584 single base substitution G A upstream_gene_variant ESAD-UK 3 196164219 196164219 deletion of <=200bp T - upstream_gene_variant ESAD-UK 3 196164236 196164236 single base substitution A G upstream_gene_variant ESCA-CN 3 196083620 196083620 single base substitution T C 3_prime_UTR_variant ESCA-CN 3 196083620 196083620 single base substitution T C missense_variant D307G 920A>G ESCA-CN 3 196083620 196083620 single base substitution T C missense_variant D321G 962A>G ESCA-CN 3 196083620 196083620 single base substitution T C missense_variant D469G 1406A>G ESCA-CN 3 196118868 196118868 single base substitution A C downstream_gene_variant ESCA-CN 3 196118868 196118868 single base substitution A C intron_variant ESCA-CN 3 196120469 196120469 single base substitution G A 5_prime_UTR_variant ESCA-CN 3 196120469 196120469 single base substitution G A exon_variant ESCA-CN 3 196120469 196120469 single base substitution G A intron_variant ESCA-CN 3 196120469 196120469 single base substitution G A missense_variant A104V 311C>T ESCA-CN 3 196120469 196120469 single base substitution G A missense_variant A71V 212C>T LAML-KR 3 196071113 196071113 single base substitution G A downstream_gene_variant LAML-KR 3 196101879 196101879 single base substitution A G intron_variant LAML-KR 3 196119566 196119566 single base substitution T C downstream_gene_variant LAML-KR 3 196119566 196119566 single base substitution T C intron_variant LGG-US 3 196094958 196094958 single base substitution C T 3_prime_UTR_variant LGG-US 3 196094958 196094958 single base substitution C T missense_variant G111S 331G>A LGG-US 3 196094958 196094958 single base substitution C T missense_variant G259S 775G>A LGG-US 3 196094958 196094958 single base substitution C T missense_variant G97S 289G>A LGG-US 3 196096372 196096372 single base substitution T A 3_prime_UTR_variant LGG-US 3 196096372 196096372 single base substitution T A missense_variant D209V 626A>T LGG-US 3 196096372 196096372 single base substitution T A missense_variant D47V 140A>T LGG-US 3 196096372 196096372 single base substitution T A missense_variant D61V 182A>T LICA-FR 3 196083593 196083593 single base substitution C A 3_prime_UTR_variant LICA-FR 3 196083593 196083593 single base substitution C A missense_variant C316F 947G>T LICA-FR 3 196083593 196083593 single base substitution C A missense_variant C330F 989G>T LICA-FR 3 196083593 196083593 single base substitution C A missense_variant C478F 1433G>T LICA-FR 3 196089055 196089055 single base substitution G C intron_variant LICA-FR 3 196109717 196109717 single base substitution T C intron_variant LICA-FR 3 196128700 196128700 insertion of <=200bp - AGAGAAGAGA intron_variant LICA-FR 3 196133680 196133680 single base substitution G A intron_variant LICA-FR 3 196137865 196137865 single base substitution A G intron_variant LICA-FR 3 196141029 196141029 single base substitution T C intron_variant LICA-FR 3 196142025 196142025 deletion of <=200bp T - intron_variant LIHC-US 3 196089289 196089289 single base substitution C T 3_prime_UTR_variant LIHC-US 3 196089289 196089289 single base substitution C T synonymous_variant E206E 618G>A LIHC-US 3 196089289 196089289 single base substitution C T synonymous_variant E220E 660G>A LIHC-US 3 196089289 196089289 single base substitution C T synonymous_variant E368E 1104G>A LIHC-US 3 196134222 196134222 deletion of <=200bp T - exon_variant LIHC-US 3 196134222 196134222 deletion of <=200bp T - frameshift_variant N38 LIHC-US 3 196134222 196134222 deletion of <=200bp T - frameshift_variant N39 LIHC-US 3 196134222 196134222 deletion of <=200bp T - frameshift_variant N6 LIHC-US 3 196134222 196134222 deletion of <=200bp T - intron_variant LIHC-US 3 196159225 196159225 insertion of <=200bp - CCC 5_prime_UTR_variant LIHC-US 3 196159225 196159225 insertion of <=200bp - CCC exon_variant LIHC-US 3 196159225 196159225 insertion of <=200bp - CCC inframe_insertion L15WV LIHC-US 3 196159225 196159225 insertion of <=200bp - CCC inframe_insertion L16WV LINC-JP 3 196076233 196076233 single base substitution T C 3_prime_UTR_variant LINC-JP 3 196077080 196077080 single base substitution A G 3_prime_UTR_variant LINC-JP 3 196077080 196077080 single base substitution A G downstream_gene_variant LINC-JP 3 196088689 196088689 single base substitution C T intron_variant LINC-JP 3 196120694 196120694 single base substitution G T intron_variant LINC-JP 3 196148561 196148561 single base substitution C T intron_variant LINC-JP 3 196150736 196150736 single base substitution T C intron_variant LINC-JP 3 196157613 196157613 single base substitution C A intron_variant LINC-JP 3 196159940 196159940 single base substitution C T upstream_gene_variant LIRI-JP 3 196069986 196069986 single base substitution T C downstream_gene_variant LIRI-JP 3 196071456 196071456 single base substitution G A downstream_gene_variant LIRI-JP 3 196072122 196072122 single base substitution C T downstream_gene_variant LIRI-JP 3 196076214 196076214 single base substitution G T 3_prime_UTR_variant LIRI-JP 3 196080548 196080548 single base substitution G A 3_prime_UTR_variant LIRI-JP 3 196080548 196080548 single base substitution G A downstream_gene_variant LIRI-JP 3 196080559 196080559 single base substitution T C 3_prime_UTR_variant LIRI-JP 3 196080559 196080559 single base substitution T C downstream_gene_variant LIRI-JP 3 196083008 196083008 single base substitution G A 3_prime_UTR_variant LIRI-JP 3 196083008 196083008 single base substitution G A downstream_gene_variant LIRI-JP 3 196084519 196084519 single base substitution A T intron_variant LIRI-JP 3 196084993 196084993 single base substitution T C intron_variant LIRI-JP 3 196086207 196086207 single base substitution T C intron_variant LIRI-JP 3 196087802 196087802 single base substitution C A intron_variant LIRI-JP 3 196091129 196091129 single base substitution T C intron_variant LIRI-JP 3 196092062 196092062 single base substitution A C intron_variant LIRI-JP 3 196093794 196093794 single base substitution C A intron_variant LIRI-JP 3 196094858 196094858 single base substitution T A intron_variant LIRI-JP 3 196102459 196102459 single base substitution T C intron_variant LIRI-JP 3 196102971 196102971 single base substitution T C intron_variant LIRI-JP 3 196103333 196103333 single base substitution C T intron_variant LIRI-JP 3 196103480 196103482 deletion of <=200bp TCT - intron_variant LIRI-JP 3 196105056 196105056 single base substitution T C intron_variant LIRI-JP 3 196105377 196105377 single base substitution A T intron_variant LIRI-JP 3 196106574 196106574 single base substitution C A intron_variant LIRI-JP 3 196107475 196107475 single base substitution T A intron_variant LIRI-JP 3 196107841 196107841 single base substitution C T intron_variant LIRI-JP 3 196110555 196110555 single base substitution T G intron_variant LIRI-JP 3 196110965 196110965 single base substitution G A intron_variant LIRI-JP 3 196112894 196112894 single base substitution T C intron_variant LIRI-JP 3 196113797 196113797 single base substitution A G downstream_gene_variant LIRI-JP 3 196113797 196113797 single base substitution A G intron_variant LIRI-JP 3 196115412 196115412 single base substitution C A downstream_gene_variant LIRI-JP 3 196115412 196115412 single base substitution C A intron_variant LIRI-JP 3 196115572 196115572 single base substitution A G downstream_gene_variant LIRI-JP 3 196115572 196115572 single base substitution A G intron_variant LIRI-JP 3 196116774 196116774 single base substitution T C downstream_gene_variant LIRI-JP 3 196116774 196116774 single base substitution T C intron_variant LIRI-JP 3 196119274 196119274 single base substitution G A downstream_gene_variant LIRI-JP 3 196119274 196119274 single base substitution G A intron_variant LIRI-JP 3 196120218 196120218 single base substitution T C downstream_gene_variant LIRI-JP 3 196120218 196120218 single base substitution T C intron_variant LIRI-JP 3 196120532 196120532 single base substitution T C intron_variant LIRI-JP 3 196120788 196120788 single base substitution T A intron_variant LIRI-JP 3 196120789 196120789 single base substitution C A intron_variant LIRI-JP 3 196122988 196122988 single base substitution C T downstream_gene_variant LIRI-JP 3 196122988 196122988 single base substitution C T intron_variant LIRI-JP 3 196124532 196124532 single base substitution A C downstream_gene_variant LIRI-JP 3 196124532 196124532 single base substitution A C intron_variant LIRI-JP 3 196124742 196124742 single base substitution C A downstream_gene_variant LIRI-JP 3 196124742 196124742 single base substitution C A intron_variant LIRI-JP 3 196130554 196130554 single base substitution A T intron_variant LIRI-JP 3 196131489 196131489 single base substitution T C intron_variant LIRI-JP 3 196131558 196131558 single base substitution T C intron_variant LIRI-JP 3 196131931 196131931 single base substitution T C intron_variant LIRI-JP 3 196133419 196133419 single base substitution T C intron_variant LIRI-JP 3 196134824 196134824 single base substitution C T intron_variant LIRI-JP 3 196134885 196134885 single base substitution C A intron_variant LIRI-JP 3 196135405 196135405 single base substitution A T intron_variant LIRI-JP 3 196136875 196136875 single base substitution G T intron_variant LIRI-JP 3 196137841 196137841 single base substitution A G intron_variant LIRI-JP 3 196138073 196138073 single base substitution T A intron_variant LIRI-JP 3 196138585 196138585 single base substitution G C intron_variant LIRI-JP 3 196139437 196139437 single base substitution A G intron_variant LIRI-JP 3 196141689 196141689 single base substitution T C intron_variant LIRI-JP 3 196141841 196141841 single base substitution C T intron_variant LIRI-JP 3 196146006 196146006 single base substitution C T intron_variant LIRI-JP 3 196146006 196146006 single base substitution C T upstream_gene_variant LIRI-JP 3 196147228 196147228 single base substitution G A intron_variant LIRI-JP 3 196147228 196147228 single base substitution G A upstream_gene_variant LIRI-JP 3 196150742 196150742 single base substitution T G intron_variant LIRI-JP 3 196152247 196152247 single base substitution T A intron_variant LIRI-JP 3 196153007 196153007 single base substitution C T intron_variant LIRI-JP 3 196154944 196154944 single base substitution G A intron_variant LIRI-JP 3 196157989 196157989 single base substitution T C intron_variant LIRI-JP 3 196161539 196161539 single base substitution T C upstream_gene_variant LIRI-JP 3 196162080 196162080 single base substitution C A upstream_gene_variant LIRI-JP 3 196163134 196163134 single base substitution C A upstream_gene_variant LIRI-JP 3 196163772 196163772 single base substitution C A upstream_gene_variant LUSC-KR 3 196069820 196069820 single base substitution C T downstream_gene_variant LUSC-KR 3 196070135 196070135 single base substitution G T downstream_gene_variant LUSC-KR 3 196071383 196071383 single base substitution G C downstream_gene_variant LUSC-KR 3 196072044 196072044 single base substitution G C downstream_gene_variant LUSC-KR 3 196072726 196072726 single base substitution G C downstream_gene_variant LUSC-KR 3 196072844 196072844 single base substitution T C downstream_gene_variant LUSC-KR 3 196073416 196073416 single base substitution G C downstream_gene_variant LUSC-KR 3 196074573 196074573 single base substitution A G 3_prime_UTR_variant LUSC-KR 3 196076105 196076105 single base substitution T C 3_prime_UTR_variant LUSC-KR 3 196082875 196082875 single base substitution T A 3_prime_UTR_variant LUSC-KR 3 196082875 196082875 single base substitution T A downstream_gene_variant LUSC-KR 3 196083840 196083840 single base substitution C A intron_variant LUSC-KR 3 196087946 196087946 single base substitution A T intron_variant LUSC-KR 3 196092761 196092761 single base substitution C A intron_variant LUSC-KR 3 196095149 196095149 single base substitution C T intron_variant LUSC-KR 3 196101762 196101762 single base substitution A G intron_variant LUSC-KR 3 196101867 196101867 single base substitution G A intron_variant LUSC-KR 3 196104611 196104611 single base substitution C T intron_variant LUSC-KR 3 196106130 196106130 single base substitution C T intron_variant LUSC-KR 3 196107816 196107816 single base substitution C A intron_variant LUSC-KR 3 196109865 196109865 single base substitution T C intron_variant LUSC-KR 3 196110199 196110199 single base substitution G C intron_variant LUSC-KR 3 196114747 196114747 single base substitution A G downstream_gene_variant LUSC-KR 3 196114747 196114747 single base substitution A G intron_variant LUSC-KR 3 196117188 196117188 single base substitution C A downstream_gene_variant LUSC-KR 3 196117188 196117188 single base substitution C A intron_variant LUSC-KR 3 196119198 196119198 single base substitution C A downstream_gene_variant LUSC-KR 3 196119198 196119198 single base substitution C A intron_variant LUSC-KR 3 196129034 196129034 single base substitution G A intron_variant LUSC-KR 3 196134291 196134291 single base substitution C A intron_variant LUSC-KR 3 196139375 196139375 single base substitution G A intron_variant LUSC-KR 3 196140463 196140463 single base substitution C T intron_variant LUSC-KR 3 196143449 196143449 single base substitution G A intron_variant LUSC-KR 3 196143449 196143449 single base substitution G A upstream_gene_variant LUSC-KR 3 196143451 196143451 single base substitution G A intron_variant LUSC-KR 3 196143451 196143451 single base substitution G A upstream_gene_variant LUSC-KR 3 196145018 196145018 single base substitution G A intron_variant LUSC-KR 3 196145018 196145018 single base substitution G A upstream_gene_variant LUSC-KR 3 196150828 196150828 single base substitution T G intron_variant LUSC-KR 3 196153282 196153282 single base substitution G A intron_variant LUSC-KR 3 196154414 196154414 single base substitution C G intron_variant LUSC-KR 3 196156111 196156111 single base substitution T C intron_variant LUSC-KR 3 196159369 196159369 single base substitution C T upstream_gene_variant LUSC-KR 3 196162057 196162057 single base substitution G C upstream_gene_variant LUSC-US 3 196083658 196083658 single base substitution G T 3_prime_UTR_variant LUSC-US 3 196083658 196083658 single base substitution G T synonymous_variant T294T 882C>A LUSC-US 3 196083658 196083658 single base substitution G T synonymous_variant T308T 924C>A LUSC-US 3 196083658 196083658 single base substitution G T synonymous_variant T456T 1368C>A LUSC-US 3 196094906 196094906 single base substitution G A 3_prime_UTR_variant LUSC-US 3 196094906 196094906 single base substitution G A missense_variant A114V 341C>T LUSC-US 3 196094906 196094906 single base substitution G A missense_variant A128V 383C>T LUSC-US 3 196094906 196094906 single base substitution G A missense_variant A276V 827C>T LUSC-US 3 196129834 196129834 single base substitution G T 5_prime_UTR_variant LUSC-US 3 196129834 196129834 single base substitution G T exon_variant LUSC-US 3 196129834 196129834 single base substitution G T intron_variant LUSC-US 3 196129834 196129834 single base substitution G T missense_variant P60Q 179C>A LUSC-US 3 196129834 196129834 single base substitution G T missense_variant P92Q 275C>A LUSC-US 3 196129834 196129834 single base substitution G T missense_variant P93Q 278C>A MALY-DE 3 196078370 196078370 single base substitution A G 3_prime_UTR_variant MALY-DE 3 196078370 196078370 single base substitution A G downstream_gene_variant MALY-DE 3 196078457 196078457 single base substitution A G 3_prime_UTR_variant MALY-DE 3 196078457 196078457 single base substitution A G downstream_gene_variant MALY-DE 3 196082067 196082067 single base substitution T C 3_prime_UTR_variant MALY-DE 3 196082067 196082067 single base substitution T C downstream_gene_variant MALY-DE 3 196090302 196090302 single base substitution T A intron_variant MALY-DE 3 196090421 196090421 single base substitution A T intron_variant MALY-DE 3 196090452 196090452 single base substitution A T intron_variant MALY-DE 3 196090457 196090457 single base substitution A G intron_variant MALY-DE 3 196090495 196090495 single base substitution G A intron_variant MALY-DE 3 196092910 196092910 single base substitution G A intron_variant MALY-DE 3 196100595 196100595 single base substitution T A intron_variant MALY-DE 3 196115621 196115621 single base substitution C G downstream_gene_variant MALY-DE 3 196115621 196115621 single base substitution C G intron_variant MALY-DE 3 196124118 196124118 single base substitution C T downstream_gene_variant MALY-DE 3 196124118 196124118 single base substitution C T intron_variant MALY-DE 3 196127488 196127488 single base substitution G T exon_variant MALY-DE 3 196127488 196127488 single base substitution G T intron_variant MALY-DE 3 196131013 196131013 single base substitution T C intron_variant MALY-DE 3 196135924 196135924 single base substitution A C intron_variant MALY-DE 3 196140066 196140066 single base substitution A T intron_variant MALY-DE 3 196144337 196144337 single base substitution G A intron_variant MALY-DE 3 196144337 196144337 single base substitution G A upstream_gene_variant MALY-DE 3 196153909 196153909 single base substitution G A intron_variant MALY-DE 3 196158136 196158136 single base substitution T A intron_variant MALY-DE 3 196160364 196160365 deletion of <=200bp AA - upstream_gene_variant MELA-AU 3 196069874 196069874 single base substitution A G downstream_gene_variant MELA-AU 3 196070040 196070040 single base substitution G A downstream_gene_variant MELA-AU 3 196071063 196071064 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 196071290 196071290 single base substitution C T downstream_gene_variant MELA-AU 3 196071372 196071372 single base substitution G A downstream_gene_variant MELA-AU 3 196071540 196071540 single base substitution G A downstream_gene_variant MELA-AU 3 196071757 196071757 single base substitution G A downstream_gene_variant MELA-AU 3 196071802 196071802 single base substitution G A downstream_gene_variant MELA-AU 3 196072084 196072084 single base substitution A T downstream_gene_variant MELA-AU 3 196072393 196072393 single base substitution G A downstream_gene_variant MELA-AU 3 196073207 196073207 single base substitution G A downstream_gene_variant MELA-AU 3 196073827 196073827 single base substitution G A downstream_gene_variant MELA-AU 3 196073922 196073922 single base substitution G A downstream_gene_variant MELA-AU 3 196074145 196074145 single base substitution G A downstream_gene_variant MELA-AU 3 196074251 196074251 single base substitution G A downstream_gene_variant MELA-AU 3 196074392 196074392 single base substitution A T downstream_gene_variant MELA-AU 3 196075646 196075646 single base substitution A G 3_prime_UTR_variant MELA-AU 3 196075772 196075772 single base substitution G A 3_prime_UTR_variant MELA-AU 3 196075912 196075912 single base substitution G A 3_prime_UTR_variant MELA-AU 3 196076221 196076221 single base substitution G A 3_prime_UTR_variant MELA-AU 3 196076227 196076227 single base substitution T A 3_prime_UTR_variant MELA-AU 3 196076336 196076336 single base substitution G A 3_prime_UTR_variant MELA-AU 3 196076336 196076336 single base substitution G C 3_prime_UTR_variant MELA-AU 3 196076588 196076588 single base substitution G A 3_prime_UTR_variant MELA-AU 3 196076708 196076708 single base substitution C T 3_prime_UTR_variant MELA-AU 3 196076941 196076941 single base substitution G A 3_prime_UTR_variant MELA-AU 3 196076941 196076941 single base substitution G A downstream_gene_variant MELA-AU 3 196077072 196077072 single base substitution G A 3_prime_UTR_variant MELA-AU 3 196077072 196077072 single base substitution G A downstream_gene_variant MELA-AU 3 196078383 196078383 single base substitution G A 3_prime_UTR_variant MELA-AU 3 196078383 196078383 single base substitution G A downstream_gene_variant MELA-AU 3 196078439 196078439 single base substitution G A 3_prime_UTR_variant MELA-AU 3 196078439 196078439 single base substitution G A downstream_gene_variant MELA-AU 3 196078688 196078688 single base substitution G A 3_prime_UTR_variant MELA-AU 3 196078688 196078688 single base substitution G A downstream_gene_variant MELA-AU 3 196079096 196079096 single base substitution G A 3_prime_UTR_variant MELA-AU 3 196079096 196079096 single base substitution G A downstream_gene_variant MELA-AU 3 196079253 196079253 single base substitution G A 3_prime_UTR_variant MELA-AU 3 196079253 196079253 single base substitution G A downstream_gene_variant MELA-AU 3 196079306 196079307 multiple base substitution (>=2bp and <=200bp) GG TA 3_prime_UTR_variant MELA-AU 3 196079306 196079307 multiple base substitution (>=2bp and <=200bp) GG TA downstream_gene_variant MELA-AU 3 196079337 196079337 single base substitution G A 3_prime_UTR_variant MELA-AU 3 196079337 196079337 single base substitution G A downstream_gene_variant MELA-AU 3 196079338 196079350 deletion of <=200bp AACTCCCAACCTC - 3_prime_UTR_variant MELA-AU 3 196079338 196079350 deletion of <=200bp AACTCCCAACCTC - downstream_gene_variant MELA-AU 3 196079583 196079583 single base substitution G A 3_prime_UTR_variant MELA-AU 3 196079583 196079583 single base substitution G A downstream_gene_variant MELA-AU 3 196080107 196080107 single base substitution A G 3_prime_UTR_variant MELA-AU 3 196080107 196080107 single base substitution A G downstream_gene_variant MELA-AU 3 196080176 196080176 single base substitution G A 3_prime_UTR_variant MELA-AU 3 196080176 196080176 single base substitution G A downstream_gene_variant MELA-AU 3 196082143 196082143 single base substitution C T 3_prime_UTR_variant MELA-AU 3 196082143 196082143 single base substitution C T downstream_gene_variant MELA-AU 3 196082283 196082283 single base substitution T G 3_prime_UTR_variant MELA-AU 3 196082283 196082283 single base substitution T G downstream_gene_variant MELA-AU 3 196082530 196082530 single base substitution G A 3_prime_UTR_variant MELA-AU 3 196082530 196082530 single base substitution G A downstream_gene_variant MELA-AU 3 196083022 196083022 single base substitution G A 3_prime_UTR_variant MELA-AU 3 196083022 196083022 single base substitution G A downstream_gene_variant MELA-AU 3 196083051 196083051 single base substitution G A 3_prime_UTR_variant MELA-AU 3 196083051 196083051 single base substitution G A downstream_gene_variant MELA-AU 3 196083391 196083392 multiple base substitution (>=2bp and <=200bp) AG TA 3_prime_UTR_variant MELA-AU 3 196083391 196083392 multiple base substitution (>=2bp and <=200bp) AG TA downstream_gene_variant MELA-AU 3 196083873 196083873 single base substitution G A intron_variant MELA-AU 3 196084136 196084136 single base substitution G A intron_variant MELA-AU 3 196084300 196084300 single base substitution G A intron_variant MELA-AU 3 196084801 196084801 single base substitution G A intron_variant MELA-AU 3 196085795 196085796 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 3 196086309 196086309 single base substitution G A intron_variant MELA-AU 3 196086451 196086451 single base substitution G A intron_variant MELA-AU 3 196087909 196087909 single base substitution G A intron_variant MELA-AU 3 196088044 196088044 single base substitution G A intron_variant MELA-AU 3 196088661 196088661 single base substitution G A intron_variant MELA-AU 3 196088805 196088805 single base substitution G A intron_variant MELA-AU 3 196089166 196089166 single base substitution A C missense_variant N247K 741T>G MELA-AU 3 196089166 196089166 single base substitution A C missense_variant N261K 783T>G MELA-AU 3 196089166 196089166 single base substitution A C missense_variant N409K 1227T>G MELA-AU 3 196089166 196089166 single base substitution A C splice_region_variant MELA-AU 3 196089406 196089406 single base substitution G A 3_prime_UTR_variant MELA-AU 3 196089406 196089406 single base substitution G A synonymous_variant F167F 501C>T MELA-AU 3 196089406 196089406 single base substitution G A synonymous_variant F181F 543C>T MELA-AU 3 196089406 196089406 single base substitution G A synonymous_variant F329F 987C>T MELA-AU 3 196089568 196089568 single base substitution G T intron_variant MELA-AU 3 196089797 196089797 single base substitution G A intron_variant MELA-AU 3 196090849 196090849 single base substitution C T intron_variant MELA-AU 3 196092273 196092273 single base substitution T C intron_variant MELA-AU 3 196092291 196092291 single base substitution G A intron_variant MELA-AU 3 196092839 196092839 single base substitution C T intron_variant MELA-AU 3 196092910 196092910 single base substitution G A intron_variant MELA-AU 3 196093197 196093197 single base substitution G A intron_variant MELA-AU 3 196093319 196093319 single base substitution C T intron_variant MELA-AU 3 196093522 196093522 single base substitution G A intron_variant MELA-AU 3 196093581 196093581 single base substitution G A intron_variant MELA-AU 3 196094374 196094374 single base substitution A G intron_variant MELA-AU 3 196094563 196094563 single base substitution G A intron_variant MELA-AU 3 196095185 196095185 single base substitution G A intron_variant MELA-AU 3 196095794 196095795 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 196096170 196096170 single base substitution G A intron_variant MELA-AU 3 196096312 196096312 single base substitution G A 3_prime_UTR_variant MELA-AU 3 196096312 196096312 single base substitution G A missense_variant S229F 686C>T MELA-AU 3 196096312 196096312 single base substitution G A missense_variant S67F 200C>T MELA-AU 3 196096312 196096312 single base substitution G A missense_variant S81F 242C>T MELA-AU 3 196097354 196097354 single base substitution G A intron_variant MELA-AU 3 196097715 196097715 single base substitution G A intron_variant MELA-AU 3 196098299 196098299 single base substitution A G intron_variant MELA-AU 3 196098540 196098540 single base substitution G A intron_variant MELA-AU 3 196098612 196098612 single base substitution C T intron_variant MELA-AU 3 196099005 196099005 single base substitution A T intron_variant MELA-AU 3 196099502 196099502 single base substitution C T intron_variant MELA-AU 3 196100348 196100348 single base substitution G A intron_variant MELA-AU 3 196100990 196100990 single base substitution G A intron_variant MELA-AU 3 196103844 196103844 single base substitution G A intron_variant MELA-AU 3 196103854 196103854 single base substitution C T intron_variant MELA-AU 3 196104246 196104246 deletion of <=200bp G - intron_variant MELA-AU 3 196104641 196104641 single base substitution G A intron_variant MELA-AU 3 196105062 196105062 single base substitution T A intron_variant MELA-AU 3 196105280 196105280 single base substitution C T intron_variant MELA-AU 3 196105349 196105349 single base substitution T C intron_variant MELA-AU 3 196105566 196105566 single base substitution G A intron_variant MELA-AU 3 196106089 196106090 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 196106159 196106159 single base substitution G A intron_variant MELA-AU 3 196106162 196106162 single base substitution G A intron_variant MELA-AU 3 196106504 196106504 single base substitution G A intron_variant MELA-AU 3 196106942 196106942 single base substitution A T intron_variant MELA-AU 3 196106973 196106973 single base substitution C T intron_variant MELA-AU 3 196107104 196107104 single base substitution G A intron_variant MELA-AU 3 196107268 196107268 single base substitution G A intron_variant MELA-AU 3 196107526 196107526 single base substitution G A intron_variant MELA-AU 3 196107605 196107605 single base substitution G A intron_variant MELA-AU 3 196109008 196109008 single base substitution G A intron_variant MELA-AU 3 196109375 196109375 single base substitution G A intron_variant MELA-AU 3 196109884 196109885 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 196109995 196109995 single base substitution A C intron_variant MELA-AU 3 196111270 196111270 single base substitution G A intron_variant MELA-AU 3 196111297 196111297 single base substitution G A intron_variant MELA-AU 3 196111484 196111484 single base substitution G A intron_variant MELA-AU 3 196111632 196111632 single base substitution T A intron_variant MELA-AU 3 196111863 196111863 single base substitution G A intron_variant MELA-AU 3 196112267 196112267 single base substitution G A intron_variant MELA-AU 3 196112577 196112577 single base substitution G A intron_variant MELA-AU 3 196112615 196112615 single base substitution G A intron_variant MELA-AU 3 196112645 196112645 single base substitution C T intron_variant MELA-AU 3 196112808 196112808 single base substitution G A intron_variant MELA-AU 3 196112823 196112823 single base substitution G A intron_variant MELA-AU 3 196112986 196112986 single base substitution C T intron_variant MELA-AU 3 196113619 196113619 single base substitution G A intron_variant MELA-AU 3 196113881 196113881 single base substitution A C downstream_gene_variant MELA-AU 3 196113881 196113881 single base substitution A C intron_variant MELA-AU 3 196114429 196114429 single base substitution C T downstream_gene_variant MELA-AU 3 196114429 196114429 single base substitution C T intron_variant MELA-AU 3 196114611 196114611 single base substitution G A downstream_gene_variant MELA-AU 3 196114611 196114611 single base substitution G A intron_variant MELA-AU 3 196115711 196115711 single base substitution T A downstream_gene_variant MELA-AU 3 196115711 196115711 single base substitution T A intron_variant MELA-AU 3 196116278 196116278 single base substitution C T downstream_gene_variant MELA-AU 3 196116278 196116278 single base substitution C T intron_variant MELA-AU 3 196116356 196116356 single base substitution G A downstream_gene_variant MELA-AU 3 196116356 196116356 single base substitution G A intron_variant MELA-AU 3 196117507 196117507 single base substitution G A downstream_gene_variant MELA-AU 3 196117507 196117507 single base substitution G A intron_variant MELA-AU 3 196118486 196118486 single base substitution C T downstream_gene_variant MELA-AU 3 196118486 196118486 single base substitution C T intron_variant MELA-AU 3 196119016 196119016 single base substitution G A downstream_gene_variant MELA-AU 3 196119016 196119016 single base substitution G A intron_variant MELA-AU 3 196119028 196119028 single base substitution A G downstream_gene_variant MELA-AU 3 196119028 196119028 single base substitution A G intron_variant MELA-AU 3 196119495 196119495 single base substitution G A downstream_gene_variant MELA-AU 3 196119495 196119495 single base substitution G A intron_variant MELA-AU 3 196119748 196119748 single base substitution A G downstream_gene_variant MELA-AU 3 196119748 196119748 single base substitution A G intron_variant MELA-AU 3 196120488 196120488 single base substitution G A intron_variant MELA-AU 3 196120488 196120488 single base substitution G A missense_variant P65S 193C>T MELA-AU 3 196120488 196120488 single base substitution G A missense_variant P98S 292C>T MELA-AU 3 196120488 196120488 single base substitution G A splice_region_variant MELA-AU 3 196120589 196120589 single base substitution G A intron_variant MELA-AU 3 196121293 196121293 single base substitution G A intron_variant MELA-AU 3 196121594 196121594 single base substitution G A intron_variant MELA-AU 3 196121964 196121964 deletion of <=200bp T - intron_variant MELA-AU 3 196122291 196122291 single base substitution G A downstream_gene_variant MELA-AU 3 196122291 196122291 single base substitution G A intron_variant MELA-AU 3 196122450 196122450 single base substitution G A downstream_gene_variant MELA-AU 3 196122450 196122450 single base substitution G A intron_variant MELA-AU 3 196122656 196122656 single base substitution C T downstream_gene_variant MELA-AU 3 196122656 196122656 single base substitution C T intron_variant MELA-AU 3 196123044 196123044 single base substitution T C downstream_gene_variant MELA-AU 3 196123044 196123044 single base substitution T C intron_variant MELA-AU 3 196123155 196123155 single base substitution G A downstream_gene_variant MELA-AU 3 196123155 196123155 single base substitution G A intron_variant MELA-AU 3 196123451 196123451 single base substitution G A downstream_gene_variant MELA-AU 3 196123451 196123451 single base substitution G A intron_variant MELA-AU 3 196123553 196123553 single base substitution G A downstream_gene_variant MELA-AU 3 196123553 196123553 single base substitution G A intron_variant MELA-AU 3 196123560 196123560 single base substitution G A downstream_gene_variant MELA-AU 3 196123560 196123560 single base substitution G A intron_variant MELA-AU 3 196124033 196124033 single base substitution G A downstream_gene_variant MELA-AU 3 196124033 196124033 single base substitution G A intron_variant MELA-AU 3 196124115 196124115 single base substitution G A downstream_gene_variant MELA-AU 3 196124115 196124115 single base substitution G A intron_variant MELA-AU 3 196124245 196124245 single base substitution C T downstream_gene_variant MELA-AU 3 196124245 196124245 single base substitution C T intron_variant MELA-AU 3 196124309 196124309 single base substitution G A downstream_gene_variant MELA-AU 3 196124309 196124309 single base substitution G A intron_variant MELA-AU 3 196124310 196124310 single base substitution A T downstream_gene_variant MELA-AU 3 196124310 196124310 single base substitution A T intron_variant MELA-AU 3 196124752 196124752 single base substitution G A downstream_gene_variant MELA-AU 3 196124752 196124752 single base substitution G A intron_variant MELA-AU 3 196125175 196125175 single base substitution A G downstream_gene_variant MELA-AU 3 196125175 196125175 single base substitution A G intron_variant MELA-AU 3 196126443 196126443 single base substitution G A downstream_gene_variant MELA-AU 3 196126443 196126443 single base substitution G A intron_variant MELA-AU 3 196126472 196126472 single base substitution G A downstream_gene_variant MELA-AU 3 196126472 196126472 single base substitution G A intron_variant MELA-AU 3 196126530 196126530 single base substitution C T downstream_gene_variant MELA-AU 3 196126530 196126530 single base substitution C T intron_variant MELA-AU 3 196126952 196126952 single base substitution C T downstream_gene_variant MELA-AU 3 196126952 196126952 single base substitution C T intron_variant MELA-AU 3 196127145 196127145 single base substitution G A exon_variant MELA-AU 3 196127145 196127145 single base substitution G A intron_variant MELA-AU 3 196128382 196128382 single base substitution G T intron_variant MELA-AU 3 196128502 196128502 single base substitution G A intron_variant MELA-AU 3 196128573 196128573 single base substitution G A intron_variant MELA-AU 3 196129348 196129348 single base substitution G A intron_variant MELA-AU 3 196129691 196129691 single base substitution G A intron_variant MELA-AU 3 196129825 196129825 single base substitution C T intron_variant MELA-AU 3 196129825 196129825 single base substitution C T missense_variant G63D 188G>A MELA-AU 3 196129825 196129825 single base substitution C T missense_variant G95D 284G>A MELA-AU 3 196129825 196129825 single base substitution C T missense_variant G96D 287G>A MELA-AU 3 196129825 196129825 single base substitution C T splice_region_variant MELA-AU 3 196129868 196129868 single base substitution G T 5_prime_UTR_variant MELA-AU 3 196129868 196129868 single base substitution G T exon_variant MELA-AU 3 196129868 196129868 single base substitution G T intron_variant MELA-AU 3 196129868 196129868 single base substitution G T missense_variant P49T 145C>A MELA-AU 3 196129868 196129868 single base substitution G T missense_variant P81T 241C>A MELA-AU 3 196129868 196129868 single base substitution G T missense_variant P82T 244C>A MELA-AU 3 196129908 196129908 single base substitution G A intron_variant MELA-AU 3 196129921 196129921 single base substitution G A intron_variant MELA-AU 3 196130411 196130411 single base substitution G A intron_variant MELA-AU 3 196130774 196130774 single base substitution A G intron_variant MELA-AU 3 196131182 196131182 single base substitution G A intron_variant MELA-AU 3 196131615 196131615 single base substitution G A intron_variant MELA-AU 3 196132249 196132249 single base substitution G A intron_variant MELA-AU 3 196132633 196132633 single base substitution G T intron_variant MELA-AU 3 196133002 196133002 single base substitution C T intron_variant MELA-AU 3 196133095 196133095 single base substitution G A intron_variant MELA-AU 3 196133647 196133647 single base substitution C A intron_variant MELA-AU 3 196133926 196133926 single base substitution G A intron_variant MELA-AU 3 196134513 196134513 single base substitution A G intron_variant MELA-AU 3 196134956 196134956 single base substitution G A intron_variant MELA-AU 3 196135027 196135027 single base substitution G A intron_variant MELA-AU 3 196135782 196135782 single base substitution G A intron_variant MELA-AU 3 196135788 196135788 single base substitution C G intron_variant MELA-AU 3 196136227 196136227 single base substitution G A intron_variant MELA-AU 3 196136603 196136603 single base substitution C T intron_variant MELA-AU 3 196136695 196136695 single base substitution G A intron_variant MELA-AU 3 196137069 196137070 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 196137676 196137676 single base substitution G A intron_variant MELA-AU 3 196138197 196138197 single base substitution G A intron_variant MELA-AU 3 196138358 196138358 single base substitution T A intron_variant MELA-AU 3 196138501 196138501 single base substitution G A intron_variant MELA-AU 3 196138996 196138996 single base substitution G A intron_variant MELA-AU 3 196139288 196139288 deletion of <=200bp A - intron_variant MELA-AU 3 196139532 196139532 single base substitution A C intron_variant MELA-AU 3 196140329 196140329 single base substitution C T intron_variant MELA-AU 3 196141782 196141782 single base substitution G A intron_variant MELA-AU 3 196141831 196141831 single base substitution G C intron_variant MELA-AU 3 196142490 196142490 single base substitution A G intron_variant MELA-AU 3 196143162 196143162 single base substitution C A intron_variant MELA-AU 3 196143162 196143162 single base substitution C A upstream_gene_variant MELA-AU 3 196143173 196143173 single base substitution G A intron_variant MELA-AU 3 196143173 196143173 single base substitution G A upstream_gene_variant MELA-AU 3 196143606 196143606 single base substitution C T intron_variant MELA-AU 3 196143606 196143606 single base substitution C T upstream_gene_variant MELA-AU 3 196143846 196143846 single base substitution G A intron_variant MELA-AU 3 196143846 196143846 single base substitution G A upstream_gene_variant MELA-AU 3 196143951 196143951 single base substitution G A intron_variant MELA-AU 3 196143951 196143951 single base substitution G A upstream_gene_variant MELA-AU 3 196144478 196144478 single base substitution G A intron_variant MELA-AU 3 196144478 196144478 single base substitution G A upstream_gene_variant MELA-AU 3 196145180 196145180 single base substitution T G intron_variant MELA-AU 3 196145180 196145180 single base substitution T G upstream_gene_variant MELA-AU 3 196145262 196145262 single base substitution G A intron_variant MELA-AU 3 196145262 196145262 single base substitution G A upstream_gene_variant MELA-AU 3 196145622 196145622 single base substitution G A intron_variant MELA-AU 3 196145622 196145622 single base substitution G A upstream_gene_variant MELA-AU 3 196145901 196145902 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 196145901 196145902 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 196145934 196145934 single base substitution G A intron_variant MELA-AU 3 196145934 196145934 single base substitution G A upstream_gene_variant MELA-AU 3 196146962 196146962 single base substitution G A intron_variant MELA-AU 3 196146962 196146962 single base substitution G A upstream_gene_variant MELA-AU 3 196147047 196147047 single base substitution G A intron_variant MELA-AU 3 196147047 196147047 single base substitution G A upstream_gene_variant MELA-AU 3 196147437 196147437 single base substitution G A intron_variant MELA-AU 3 196147437 196147437 single base substitution G A upstream_gene_variant MELA-AU 3 196148365 196148365 single base substitution G A intron_variant MELA-AU 3 196148459 196148459 single base substitution G A intron_variant MELA-AU 3 196148765 196148765 single base substitution G A intron_variant MELA-AU 3 196149218 196149218 single base substitution G A intron_variant MELA-AU 3 196149810 196149810 single base substitution A G intron_variant MELA-AU 3 196149817 196149817 single base substitution C T intron_variant MELA-AU 3 196150197 196150197 single base substitution T C intron_variant MELA-AU 3 196150440 196150440 single base substitution G A intron_variant MELA-AU 3 196150471 196150471 single base substitution G A intron_variant MELA-AU 3 196150752 196150752 single base substitution T G intron_variant MELA-AU 3 196151238 196151238 single base substitution C T intron_variant MELA-AU 3 196151658 196151658 single base substitution C T intron_variant MELA-AU 3 196151825 196151825 single base substitution G A intron_variant MELA-AU 3 196151843 196151843 single base substitution G A intron_variant MELA-AU 3 196151926 196151926 single base substitution C T intron_variant MELA-AU 3 196152131 196152131 single base substitution G A intron_variant MELA-AU 3 196153538 196153538 single base substitution G A intron_variant MELA-AU 3 196154056 196154056 single base substitution A T intron_variant MELA-AU 3 196154103 196154103 single base substitution G A intron_variant MELA-AU 3 196155384 196155384 single base substitution A G intron_variant MELA-AU 3 196156507 196156507 single base substitution T A intron_variant MELA-AU 3 196156761 196156761 single base substitution G C intron_variant MELA-AU 3 196156970 196156970 single base substitution A T intron_variant MELA-AU 3 196157151 196157152 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 196157723 196157723 single base substitution G A intron_variant MELA-AU 3 196159364 196159364 single base substitution C T upstream_gene_variant MELA-AU 3 196159388 196159388 single base substitution C T upstream_gene_variant MELA-AU 3 196159646 196159646 single base substitution C T upstream_gene_variant MELA-AU 3 196160225 196160225 single base substitution A G upstream_gene_variant MELA-AU 3 196162516 196162516 single base substitution G A upstream_gene_variant ORCA-IN 3 196073024 196073024 single base substitution G C downstream_gene_variant ORCA-IN 3 196090114 196090114 single base substitution C T intron_variant ORCA-IN 3 196134250 196134250 single base substitution C A 5_prime_UTR_variant ORCA-IN 3 196134250 196134250 single base substitution C A exon_variant ORCA-IN 3 196134250 196134250 single base substitution C A intron_variant ORCA-IN 3 196134250 196134250 single base substitution C A missense_variant V29L 85G>T ORCA-IN 3 196134250 196134250 single base substitution C A missense_variant V30L 88G>T ORCA-IN 3 196162220 196162220 single base substitution G A upstream_gene_variant OV-AU 3 196071111 196071111 single base substitution G A downstream_gene_variant OV-AU 3 196071112 196071112 single base substitution C T downstream_gene_variant OV-AU 3 196071479 196071479 single base substitution C A downstream_gene_variant OV-AU 3 196072269 196072269 single base substitution C G downstream_gene_variant OV-AU 3 196077061 196077061 single base substitution A C 3_prime_UTR_variant OV-AU 3 196077061 196077061 single base substitution A C downstream_gene_variant OV-AU 3 196078721 196078721 single base substitution C G 3_prime_UTR_variant OV-AU 3 196078721 196078721 single base substitution C G downstream_gene_variant OV-AU 3 196080118 196080118 single base substitution C G 3_prime_UTR_variant OV-AU 3 196080118 196080118 single base substitution C G downstream_gene_variant OV-AU 3 196090526 196090526 single base substitution G C intron_variant OV-AU 3 196097148 196097148 single base substitution T G intron_variant OV-AU 3 196107235 196107235 single base substitution C G intron_variant OV-AU 3 196107734 196107734 single base substitution G A intron_variant OV-AU 3 196107754 196107754 single base substitution G A intron_variant OV-AU 3 196108142 196108142 single base substitution G A intron_variant OV-AU 3 196108162 196108162 single base substitution C G intron_variant OV-AU 3 196109712 196109712 single base substitution C T intron_variant OV-AU 3 196110474 196110474 single base substitution C G intron_variant OV-AU 3 196111149 196111149 single base substitution T A intron_variant OV-AU 3 196111572 196111572 single base substitution A C intron_variant OV-AU 3 196124370 196124370 single base substitution T C downstream_gene_variant OV-AU 3 196124370 196124370 single base substitution T C intron_variant OV-AU 3 196125347 196125347 single base substitution T A downstream_gene_variant OV-AU 3 196125347 196125347 single base substitution T A intron_variant OV-AU 3 196131639 196131639 single base substitution C G intron_variant OV-AU 3 196133895 196133895 single base substitution G A intron_variant OV-AU 3 196136736 196136736 single base substitution C G intron_variant OV-AU 3 196150024 196150024 single base substitution C T intron_variant OV-AU 3 196154914 196154914 single base substitution G C intron_variant OV-AU 3 196155100 196155100 single base substitution C T intron_variant OV-AU 3 196158111 196158111 single base substitution C G intron_variant OV-AU 3 196159599 196159599 single base substitution C T upstream_gene_variant OV-AU 3 196161476 196161476 single base substitution C G upstream_gene_variant OV-AU 3 196162307 196162307 single base substitution C A upstream_gene_variant OV-AU 3 196163241 196163241 single base substitution G A upstream_gene_variant OV-US 3 196094997 196094997 single base substitution C A 3_prime_UTR_variant OV-US 3 196094997 196094997 single base substitution C A missense_variant D246Y 736G>T OV-US 3 196094997 196094997 single base substitution C A missense_variant D84Y 250G>T OV-US 3 196094997 196094997 single base substitution C A missense_variant D98Y 292G>T PACA-AU 3 196080929 196080929 single base substitution G T 3_prime_UTR_variant PACA-AU 3 196080929 196080929 single base substitution G T downstream_gene_variant PACA-AU 3 196083322 196083322 single base substitution G C 3_prime_UTR_variant PACA-AU 3 196083322 196083322 single base substitution G C downstream_gene_variant PACA-AU 3 196089284 196089284 single base substitution G A 3_prime_UTR_variant PACA-AU 3 196089284 196089284 single base substitution G A missense_variant P208L 623C>T PACA-AU 3 196089284 196089284 single base substitution G A missense_variant P222L 665C>T PACA-AU 3 196089284 196089284 single base substitution G A missense_variant P370L 1109C>T PACA-AU 3 196089483 196089483 single base substitution C T 3_prime_UTR_variant PACA-AU 3 196089483 196089483 single base substitution C T missense_variant D142N 424G>A PACA-AU 3 196089483 196089483 single base substitution C T missense_variant D156N 466G>A PACA-AU 3 196089483 196089483 single base substitution C T missense_variant D304N 910G>A PACA-AU 3 196091243 196091243 single base substitution A T intron_variant PACA-AU 3 196093614 196093614 single base substitution A C intron_variant PACA-AU 3 196095685 196095685 single base substitution A C intron_variant PACA-AU 3 196096831 196096831 single base substitution G A intron_variant PACA-AU 3 196097802 196097802 single base substitution A C intron_variant PACA-AU 3 196104739 196104739 single base substitution C G intron_variant PACA-AU 3 196107390 196107390 single base substitution G A intron_variant PACA-AU 3 196107930 196107930 single base substitution G A intron_variant PACA-AU 3 196107939 196107971 deletion of <=200bp GCAGCAGACAACTTCTGCAGACTTAAACGTCCC - intron_variant PACA-AU 3 196109118 196109118 single base substitution C T intron_variant PACA-AU 3 196115505 196115505 single base substitution G T downstream_gene_variant PACA-AU 3 196115505 196115505 single base substitution G T intron_variant PACA-AU 3 196121194 196121194 single base substitution G C intron_variant PACA-AU 3 196122717 196122717 single base substitution A C downstream_gene_variant PACA-AU 3 196122717 196122717 single base substitution A C intron_variant PACA-AU 3 196127339 196127339 single base substitution G A exon_variant PACA-AU 3 196127339 196127339 single base substitution G A intron_variant PACA-AU 3 196130035 196130035 deletion of <=200bp G - intron_variant PACA-AU 3 196134148 196134148 single base substitution C G exon_variant PACA-AU 3 196134148 196134148 single base substitution C G intron_variant PACA-AU 3 196134148 196134148 single base substitution C G missense_variant A31P 91G>C PACA-AU 3 196134148 196134148 single base substitution C G missense_variant A63P 187G>C PACA-AU 3 196134148 196134148 single base substitution C G missense_variant A64P 190G>C PACA-AU 3 196138708 196138708 single base substitution A C intron_variant PACA-AU 3 196139399 196139399 single base substitution C T intron_variant PACA-AU 3 196143960 196143960 single base substitution G A intron_variant PACA-AU 3 196143960 196143960 single base substitution G A upstream_gene_variant PACA-AU 3 196144441 196144441 deletion of <=200bp A - intron_variant PACA-AU 3 196144441 196144441 deletion of <=200bp A - upstream_gene_variant PACA-AU 3 196146048 196146048 single base substitution C A intron_variant PACA-AU 3 196146048 196146048 single base substitution C A upstream_gene_variant PACA-AU 3 196149309 196149309 single base substitution C T intron_variant PACA-AU 3 196151005 196151005 single base substitution A C intron_variant PACA-AU 3 196154006 196154006 single base substitution C T intron_variant PACA-AU 3 196155745 196155745 single base substitution T A intron_variant PACA-AU 3 196158922 196158922 single base substitution A C intron_variant PACA-CA 3 196071682 196071682 single base substitution T C downstream_gene_variant PACA-CA 3 196079646 196079646 single base substitution C T 3_prime_UTR_variant PACA-CA 3 196079646 196079646 single base substitution C T downstream_gene_variant PACA-CA 3 196082368 196082368 single base substitution T C 3_prime_UTR_variant PACA-CA 3 196082368 196082368 single base substitution T C downstream_gene_variant PACA-CA 3 196085456 196085456 single base substitution T A intron_variant PACA-CA 3 196092439 196092439 single base substitution T A intron_variant PACA-CA 3 196092524 196092524 single base substitution A T intron_variant PACA-CA 3 196093650 196093650 single base substitution C T intron_variant PACA-CA 3 196096402 196096402 single base substitution A T intron_variant PACA-CA 3 196108893 196108893 single base substitution C A intron_variant PACA-CA 3 196111519 196111519 single base substitution A G intron_variant PACA-CA 3 196112355 196112355 single base substitution C T intron_variant PACA-CA 3 196113064 196113064 single base substitution G A intron_variant PACA-CA 3 196115868 196115868 single base substitution C T downstream_gene_variant PACA-CA 3 196115868 196115868 single base substitution C T intron_variant PACA-CA 3 196117505 196117505 single base substitution A G downstream_gene_variant PACA-CA 3 196117505 196117505 single base substitution A G intron_variant PACA-CA 3 196119450 196119450 single base substitution G A downstream_gene_variant PACA-CA 3 196119450 196119450 single base substitution G A intron_variant PACA-CA 3 196127338 196127338 single base substitution C T exon_variant PACA-CA 3 196127338 196127338 single base substitution C T intron_variant PACA-CA 3 196128191 196128191 single base substitution C T intron_variant PACA-CA 3 196128917 196128917 single base substitution G A intron_variant PACA-CA 3 196134579 196134579 insertion of <=200bp - A intron_variant PACA-CA 3 196135742 196135751 deletion of <=200bp TTTGTCAGGG - intron_variant PACA-CA 3 196136188 196136200 deletion of <=200bp AACATATTAACCC - intron_variant PACA-CA 3 196138133 196138133 single base substitution A G intron_variant PACA-CA 3 196140755 196140755 single base substitution C A intron_variant PACA-CA 3 196141526 196141526 single base substitution C A 5_prime_UTR_variant PACA-CA 3 196141526 196141526 single base substitution C A intron_variant PACA-CA 3 196142710 196142710 deletion of <=200bp A - intron_variant PACA-CA 3 196143138 196143138 single base substitution C T intron_variant PACA-CA 3 196143138 196143138 single base substitution C T upstream_gene_variant PACA-CA 3 196145859 196145859 single base substitution G A intron_variant PACA-CA 3 196145859 196145859 single base substitution G A upstream_gene_variant PACA-CA 3 196146512 196146512 single base substitution C T intron_variant PACA-CA 3 196146512 196146512 single base substitution C T upstream_gene_variant PACA-CA 3 196149506 196149506 single base substitution C T intron_variant PACA-CA 3 196150370 196150370 single base substitution C A intron_variant PACA-CA 3 196159266 196159266 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 3 196159266 196159266 single base substitution G A exon_variant PACA-CA 3 196159266 196159266 single base substitution G A missense_variant A1V 2C>T PACA-CA 3 196159266 196159266 single base substitution G A missense_variant A2V 5C>T PACA-CA 3 196161229 196161229 single base substitution G A upstream_gene_variant PACA-CA 3 196163490 196163490 single base substitution C T upstream_gene_variant PAEN-AU 3 196146383 196146383 single base substitution A C intron_variant PAEN-AU 3 196146383 196146383 single base substitution A C upstream_gene_variant PAEN-AU 3 196152144 196152144 single base substitution C T intron_variant PAEN-IT 3 196146725 196146725 single base substitution T G intron_variant PAEN-IT 3 196146725 196146725 single base substitution T G upstream_gene_variant PAEN-IT 3 196148512 196148512 single base substitution G C intron_variant PAEN-IT 3 196150496 196150496 single base substitution C A intron_variant PBCA-DE 3 196087675 196087675 single base substitution A G intron_variant PBCA-DE 3 196089738 196089738 single base substitution G A intron_variant PBCA-DE 3 196090638 196090638 insertion of <=200bp - AAGAATACAG intron_variant PBCA-DE 3 196098518 196098518 deletion of <=200bp G - intron_variant PBCA-DE 3 196099029 196099029 single base substitution C T intron_variant PBCA-DE 3 196107470 196107470 single base substitution G T intron_variant PBCA-DE 3 196108587 196108587 single base substitution C G intron_variant PBCA-DE 3 196109859 196109859 single base substitution C T intron_variant PBCA-DE 3 196110621 196110621 single base substitution A T intron_variant PBCA-DE 3 196115797 196115797 insertion of <=200bp - A downstream_gene_variant PBCA-DE 3 196115797 196115797 insertion of <=200bp - A intron_variant PBCA-DE 3 196124814 196124814 single base substitution G A downstream_gene_variant PBCA-DE 3 196124814 196124814 single base substitution G A intron_variant PBCA-DE 3 196142521 196142521 single base substitution C T intron_variant PBCA-DE 3 196147729 196147729 single base substitution G A intron_variant PBCA-DE 3 196147729 196147729 single base substitution G A upstream_gene_variant PBCA-DE 3 196156521 196156521 single base substitution T A intron_variant PBCA-DE 3 196161745 196161745 single base substitution G T upstream_gene_variant PBCA-DE 3 196162026 196162026 single base substitution C T upstream_gene_variant PRAD-CA 3 196070535 196070535 single base substitution C T downstream_gene_variant PRAD-CA 3 196099201 196099201 single base substitution T C intron_variant PRAD-CA 3 196112741 196112741 single base substitution G A intron_variant PRAD-CA 3 196128169 196128169 single base substitution T C intron_variant PRAD-CA 3 196141900 196141900 single base substitution T A intron_variant PRAD-UK 3 196070600 196070600 single base substitution C T downstream_gene_variant PRAD-UK 3 196070601 196070601 single base substitution C A downstream_gene_variant PRAD-UK 3 196072747 196072747 single base substitution T G downstream_gene_variant PRAD-UK 3 196081157 196081157 single base substitution G A 3_prime_UTR_variant PRAD-UK 3 196081157 196081157 single base substitution G A downstream_gene_variant PRAD-UK 3 196088781 196088781 single base substitution C A 3_prime_UTR_variant PRAD-UK 3 196088781 196088781 single base substitution C A missense_variant Q252H 756G>T PRAD-UK 3 196088781 196088781 single base substitution C A missense_variant Q266H 798G>T PRAD-UK 3 196088781 196088781 single base substitution C A missense_variant Q414H 1242G>T PRAD-UK 3 196108394 196108394 single base substitution G C intron_variant PRAD-UK 3 196111268 196111268 single base substitution C T intron_variant PRAD-UK 3 196124404 196124404 single base substitution C T downstream_gene_variant PRAD-UK 3 196124404 196124404 single base substitution C T intron_variant PRAD-UK 3 196132864 196132864 deletion of <=200bp A - intron_variant PRAD-UK 3 196140086 196140086 single base substitution G A intron_variant PRAD-UK 3 196147044 196147044 insertion of <=200bp - T intron_variant PRAD-UK 3 196147044 196147044 insertion of <=200bp - T upstream_gene_variant PRAD-UK 3 196150637 196150637 single base substitution T G intron_variant READ-US 3 196088743 196088743 single base substitution A T 3_prime_UTR_variant READ-US 3 196088743 196088743 single base substitution A T missense_variant I265N 794T>A READ-US 3 196088743 196088743 single base substitution A T missense_variant I279N 836T>A READ-US 3 196088743 196088743 single base substitution A T missense_variant I427N 1280T>A RECA-EU 3 196090672 196090672 single base substitution C T intron_variant RECA-EU 3 196099642 196099642 single base substitution G C intron_variant RECA-EU 3 196105497 196105497 single base substitution C G intron_variant RECA-EU 3 196106508 196106508 single base substitution G T intron_variant RECA-EU 3 196107364 196107364 single base substitution T A intron_variant RECA-EU 3 196107941 196107941 single base substitution A T intron_variant RECA-EU 3 196116202 196116202 single base substitution A C downstream_gene_variant RECA-EU 3 196116202 196116202 single base substitution A C intron_variant RECA-EU 3 196130931 196130931 single base substitution C A intron_variant RECA-EU 3 196132365 196132365 single base substitution A G intron_variant RECA-EU 3 196143847 196143847 single base substitution A T intron_variant RECA-EU 3 196143847 196143847 single base substitution A T upstream_gene_variant RECA-EU 3 196149915 196149915 single base substitution G A intron_variant RECA-EU 3 196154097 196154097 single base substitution C A intron_variant RECA-EU 3 196163818 196163818 single base substitution G A upstream_gene_variant SKCA-BR 3 196069632 196069632 single base substitution C A downstream_gene_variant SKCA-BR 3 196071461 196071461 single base substitution C T downstream_gene_variant SKCA-BR 3 196072702 196072702 single base substitution G A downstream_gene_variant SKCA-BR 3 196073387 196073387 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 3 196075144 196075144 single base substitution T C 3_prime_UTR_variant SKCA-BR 3 196075794 196075794 insertion of <=200bp - CAAACA 3_prime_UTR_variant SKCA-BR 3 196087048 196087048 single base substitution G A intron_variant SKCA-BR 3 196087815 196087815 single base substitution T G intron_variant SKCA-BR 3 196090110 196090122 deletion of <=200bp CATACATACATAA - intron_variant SKCA-BR 3 196090118 196090122 deletion of <=200bp CATAA - intron_variant SKCA-BR 3 196090122 196090122 single base substitution A C intron_variant SKCA-BR 3 196091911 196091911 single base substitution T C intron_variant SKCA-BR 3 196094062 196094062 insertion of <=200bp - GA intron_variant SKCA-BR 3 196095828 196095828 single base substitution G A intron_variant SKCA-BR 3 196096029 196096029 single base substitution G A intron_variant SKCA-BR 3 196097148 196097152 deletion of <=200bp TTTTG - intron_variant SKCA-BR 3 196097805 196097805 single base substitution T G intron_variant SKCA-BR 3 196099880 196099880 single base substitution C T intron_variant SKCA-BR 3 196102231 196102232 deletion of <=200bp TA - intron_variant SKCA-BR 3 196103440 196103440 single base substitution G A intron_variant SKCA-BR 3 196103445 196103445 single base substitution G A intron_variant SKCA-BR 3 196103450 196103450 single base substitution G A intron_variant SKCA-BR 3 196105691 196105691 single base substitution T G intron_variant SKCA-BR 3 196107214 196107214 single base substitution T C intron_variant SKCA-BR 3 196108081 196108081 single base substitution G A intron_variant SKCA-BR 3 196110584 196110584 single base substitution G A intron_variant SKCA-BR 3 196112179 196112179 single base substitution A G intron_variant SKCA-BR 3 196117865 196117865 single base substitution C T downstream_gene_variant SKCA-BR 3 196117865 196117865 single base substitution C T intron_variant SKCA-BR 3 196125695 196125695 single base substitution T G downstream_gene_variant SKCA-BR 3 196125695 196125695 single base substitution T G intron_variant SKCA-BR 3 196128169 196128169 single base substitution T C intron_variant SKCA-BR 3 196128171 196128171 single base substitution C T intron_variant SKCA-BR 3 196128173 196128173 single base substitution C T intron_variant SKCA-BR 3 196128193 196128193 single base substitution T C intron_variant SKCA-BR 3 196128707 196128707 insertion of <=200bp - AGAAGC intron_variant SKCA-BR 3 196128962 196128962 single base substitution G A intron_variant SKCA-BR 3 196130092 196130092 single base substitution G A intron_variant SKCA-BR 3 196144594 196144599 deletion of <=200bp TTAAAA - intron_variant SKCA-BR 3 196144594 196144599 deletion of <=200bp TTAAAA - upstream_gene_variant SKCA-BR 3 196145169 196145169 insertion of <=200bp - GAATGACGA intron_variant SKCA-BR 3 196145169 196145169 insertion of <=200bp - GAATGACGA upstream_gene_variant SKCA-BR 3 196146099 196146099 single base substitution G C intron_variant SKCA-BR 3 196146099 196146099 single base substitution G C upstream_gene_variant SKCA-BR 3 196151254 196151255 deletion of <=200bp AT - intron_variant SKCA-BR 3 196151400 196151400 single base substitution C G intron_variant SKCA-BR 3 196151574 196151575 deletion of <=200bp CT - intron_variant SKCA-BR 3 196156838 196156838 single base substitution A G intron_variant SKCA-BR 3 196158032 196158032 single base substitution A T intron_variant SKCA-BR 3 196158957 196158957 single base substitution T G intron_variant SKCA-BR 3 196159388 196159388 single base substitution C T upstream_gene_variant SKCA-BR 3 196160242 196160242 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 3 196161775 196161775 single base substitution T C upstream_gene_variant SKCA-BR 3 196163948 196163948 single base substitution G A upstream_gene_variant SKCM-US 3 196083597 196083597 single base substitution G A 3_prime_UTR_variant SKCM-US 3 196083597 196083597 single base substitution G A missense_variant L315F 943C>T SKCM-US 3 196083597 196083597 single base substitution G A missense_variant L329F 985C>T SKCM-US 3 196083597 196083597 single base substitution G A missense_variant L477F 1429C>T SKCM-US 3 196083650 196083650 single base substitution G A 3_prime_UTR_variant SKCM-US 3 196083650 196083650 single base substitution G A missense_variant P297L 890C>T SKCM-US 3 196083650 196083650 single base substitution G A missense_variant P311L 932C>T SKCM-US 3 196083650 196083650 single base substitution G A missense_variant P459L 1376C>T SKCM-US 3 196096312 196096312 single base substitution G A 3_prime_UTR_variant SKCM-US 3 196096312 196096312 single base substitution G A missense_variant S229F 686C>T SKCM-US 3 196096312 196096312 single base substitution G A missense_variant S67F 200C>T SKCM-US 3 196096312 196096312 single base substitution G A missense_variant S81F 242C>T SKCM-US 3 196098779 196098779 single base substitution G A 3_prime_UTR_variant SKCM-US 3 196098779 196098779 single base substitution G A synonymous_variant F201F 603C>T SKCM-US 3 196098779 196098779 single base substitution G A synonymous_variant F39F 117C>T SKCM-US 3 196098779 196098779 single base substitution G A synonymous_variant F53F 159C>T STAD-US 3 196089374 196089376 deletion of <=200bp TCT - 3_prime_UTR_variant STAD-US 3 196089374 196089376 deletion of <=200bp TCT - disruptive_inframe_deletion EE177E STAD-US 3 196089374 196089376 deletion of <=200bp TCT - disruptive_inframe_deletion EE191E STAD-US 3 196089374 196089376 deletion of <=200bp TCT - disruptive_inframe_deletion EE339E STAD-US 3 196096324 196096324 deletion of <=200bp A - 3_prime_UTR_variant STAD-US 3 196096324 196096324 deletion of <=200bp A - frameshift_variant F225 STAD-US 3 196096324 196096324 deletion of <=200bp A - frameshift_variant F63 STAD-US 3 196096324 196096324 deletion of <=200bp A - frameshift_variant F77 STAD-US 3 196098766 196098766 single base substitution C T splice_donor_variant STAD-US 3 196098870 196098870 single base substitution T A 3_prime_UTR_variant STAD-US 3 196098870 196098870 single base substitution T A missense_variant N171I 512A>T STAD-US 3 196098870 196098870 single base substitution T A missense_variant N23I 68A>T STAD-US 3 196098870 196098870 single base substitution T A missense_variant N9I 26A>T STAD-US 3 196129884 196129884 single base substitution T G 5_prime_UTR_variant STAD-US 3 196129884 196129884 single base substitution T G exon_variant STAD-US 3 196129884 196129884 single base substitution T G intron_variant STAD-US 3 196129884 196129884 single base substitution T G missense_variant E43D 129A>C STAD-US 3 196129884 196129884 single base substitution T G missense_variant E75D 225A>C STAD-US 3 196129884 196129884 single base substitution T G missense_variant E76D 228A>C UCEC-US 3 196083559 196083559 single base substitution A C 3_prime_UTR_variant UCEC-US 3 196083559 196083559 single base substitution A C missense_variant N327K 981T>G UCEC-US 3 196083559 196083559 single base substitution A C missense_variant N341K 1023T>G UCEC-US 3 196083559 196083559 single base substitution A C missense_variant N489K 1467T>G UCEC-US 3 196083616 196083616 single base substitution A C 3_prime_UTR_variant UCEC-US 3 196083616 196083616 single base substitution A C missense_variant I308M 924T>G UCEC-US 3 196083616 196083616 single base substitution A C missense_variant I322M 966T>G UCEC-US 3 196083616 196083616 single base substitution A C missense_variant I470M 1410T>G UCEC-US 3 196083675 196083675 single base substitution G A 3_prime_UTR_variant UCEC-US 3 196083675 196083675 single base substitution G A missense_variant R289C 865C>T UCEC-US 3 196083675 196083675 single base substitution G A missense_variant R303C 907C>T UCEC-US 3 196083675 196083675 single base substitution G A missense_variant R451C 1351C>T UCEC-US 3 196083703 196083703 single base substitution G A 3_prime_UTR_variant UCEC-US 3 196083703 196083703 single base substitution G A synonymous_variant H279H 837C>T UCEC-US 3 196083703 196083703 single base substitution G A synonymous_variant H293H 879C>T UCEC-US 3 196083703 196083703 single base substitution G A synonymous_variant H441H 1323C>T UCEC-US 3 196088771 196088771 single base substitution G A 3_prime_UTR_variant UCEC-US 3 196088771 196088771 single base substitution G A missense_variant R256W 766C>T UCEC-US 3 196088771 196088771 single base substitution G A missense_variant R270W 808C>T UCEC-US 3 196088771 196088771 single base substitution G A missense_variant R418W 1252C>T UCEC-US 3 196096311 196096311 single base substitution G A 3_prime_UTR_variant UCEC-US 3 196096311 196096311 single base substitution G A synonymous_variant S229S 687C>T UCEC-US 3 196096311 196096311 single base substitution G A synonymous_variant S67S 201C>T UCEC-US 3 196096311 196096311 single base substitution G A synonymous_variant S81S 243C>T UCEC-US 3 196098832 196098832 single base substitution T C 3_prime_UTR_variant UCEC-US 3 196098832 196098832 single base substitution T C missense_variant N184D 550A>G UCEC-US 3 196098832 196098832 single base substitution T C missense_variant N22D 64A>G UCEC-US 3 196098832 196098832 single base substitution T C missense_variant N36D 106A>G UCEC-US 3 196120466 196120466 single base substitution C T 5_prime_UTR_variant UCEC-US 3 196120466 196120466 single base substitution C T exon_variant UCEC-US 3 196120466 196120466 single base substitution C T intron_variant UCEC-US 3 196120466 196120466 single base substitution C T missense_variant R105H 314G>A UCEC-US 3 196120466 196120466 single base substitution C T missense_variant R72H 215G>A UCEC-US 3 196134172 196134172 single base substitution C T exon_variant UCEC-US 3 196134172 196134172 single base substitution C T intron_variant UCEC-US 3 196134172 196134172 single base substitution C T missense_variant A23T 67G>A UCEC-US 3 196134172 196134172 single base substitution C T missense_variant A55T 163G>A UCEC-US 3 196134172 196134172 single base substitution C T missense_variant A56T 166G>A UCEC-US 3 196159229 196159229 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 3 196159229 196159229 single base substitution C A exon_variant UCEC-US 3 196159229 196159229 single base substitution C A missense_variant K13N 39G>T UCEC-US 3 196159229 196159229 single base substitution C A missense_variant K14N 42G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand KM12 COSM1670808 c.57G>C p.Q19H Substitution - Missense 3:196432343-196432343 - ZZUFHECRKL-G059T COSM5438292 c.1406A>G p.D469G Substitution - Missense 3:196356749-196356749 - CSCC-20-T COSM4523621 c.1222G>T p.V408L Substitution - Missense 3:196362300-196362300 - TCGA-AP-A059-01 COSM1043029 c.1323C>T p.H441H Substitution - coding silent 3:196356832-196356832 - TCGA-AA-3715-01 COSM270497 c.1099A>G p.T367A Substitution - Missense 3:196362423-196362423 - TCGA-AA-3966-01 COSM273435 c.691T>C p.L231L Substitution - coding silent 3:196369436-196369436 - KM12 COSM1670808 c.57G>C p.Q19H Substitution - Missense 3:196432343-196432343 - SC_9022 COSM5554086 c.748T>C p.F250L Substitution - Missense 3:196368114-196368114 - TCGA-AD-6889-01 COSM1421994 c.816_817insC p.K273fs*14 Insertion - Frameshift 3:196368045-196368046 - T3225 COSM4738998 c.415G>A p.A139T Substitution - Missense 3:196391866-196391866 - TCGA-66-2800-01 COSM248195 c.827C>T p.A276V Substitution - Missense 3:196368035-196368035 - CSCC-10-T COSM4573138 c.985T>C p.F329L Substitution - Missense 3:196362537-196362537 - 0029_CRUK_PC_0029_T1_DNA COSM5421160 c.1242G>T p.Q414H Substitution - Missense 3:196361910-196361910 - PT52 COSM5887265 c.232C>T p.R78C Substitution - Missense 3:196403009-196403009 - TCGA-GN-A269-01 COSM3591862 c.1376C>T p.P459L Substitution - Missense 3:196356779-196356779 - PDA_064 COSM3714512 c.88G>T p.V30L Substitution - Missense 3:196407379-196407379 - CSCC-19-T COSM4514967 c.992C>T p.S331F Substitution - Missense 3:196362530-196362530 - TCGA-DH-5140-01 COSM3974338 c.775G>A p.G259S Substitution - Missense 3:196368087-196368087 - 8062308 COSM84841 c.190G>C p.A64P Substitution - Missense 3:196407277-196407277 - 2521244 COSM5887265 c.232C>T p.R78C Substitution - Missense 3:196403009-196403009 - LIM1215 COSM2947303 c.822delA p.K274fs*9 Deletion - Frameshift 3:196368040-196368040 - TCGA-FG-8188-01 COSM3974339 c.626A>T p.D209V Substitution - Missense 3:196369501-196369501 - LUAD-5V8LT COSM402421 c.988A>G p.I330V Substitution - Missense 3:196362534-196362534 - TCGA-AC-A23H-01 COSM3847154 c.1215G>A p.G405G Substitution - coding silent 3:196362307-196362307 - LS411 COSM2947319 c.158G>A p.G53E Substitution - Missense 3:196407309-196407309 - TCGA-13-1410-01 COSM73191 c.463G>C p.E155Q Substitution - Missense 3:196391818-196391818 - TCGA-EF-5830-01 COSM1566843 c.1280T>A p.I427N Substitution - Missense 3:196361872-196361872 - TCGA-BS-A0UF-01 COSM1043030 c.1252C>T p.R418W Substitution - Missense 3:196361900-196361900 - TCGA-D3-A51R-06 COSM3591861 c.1429C>T p.L477F Substitution - Missense 3:196356726-196356726 - Pa14C COSM84841 c.190G>C p.A64P Substitution - Missense 3:196407277-196407277 - PD4203a COSM165387 c.504G>T p.L168L Substitution - coding silent 3:196372007-196372007 - ESO-916 COSM1269678 c.304C>T p.R102W Substitution - Missense 3:196393605-196393605 - 19T COSM3714512 c.88G>T p.V30L Substitution - Missense 3:196407379-196407379 - SC_9049 COSM5565775 c.1088G>C p.R363T Substitution - Missense 3:196362434-196362434 - 063T COSM1730211 c.637G>A p.G213S Substitution - Missense 3:196369490-196369490 - TCGA-OL-A5DA-01 COSM3847155 c.644G>C p.R215T Substitution - Missense 3:196369483-196369483 - CLN3 COSM5024588 c.233G>A p.R78H Substitution - Missense 3:196403008-196403008 - CSCC-31-T COSM4486807 c.30C>T p.S10S Substitution - coding silent 3:196432370-196432370 - PT52 COSM5939175 c.1436C>T p.P479L Substitution - Missense 3:196356719-196356719 - TCGA-CA-6717-01 COSM1422000 c.81T>C p.S27S Substitution - coding silent 3:196407386-196407386 - 585208 COSM326811 c.1343C>A p.P448Q Substitution - Missense 3:196356812-196356812 - CSCC-30-T COSM4485418 c.292C>T p.P98S Substitution - Missense 3:196393617-196393617 - TCGA-CG-5721-01 COSM4116389 c.512A>T p.N171I Substitution - Missense 3:196371999-196371999 - TCGA-B5-A11E-01 COSM1043036 c.42G>T p.K14N Substitution - Missense 3:196432358-196432358 - TCGA-FV-A3I0-01 COSM4921769 c.1104G>A p.E368E Substitution - coding silent 3:196362418-196362418 - CHC1185T COSM4803329 c.1433G>T p.C478F Substitution - Missense 3:196356722-196356722 - 8068579 COSM3392304 c.910G>A p.D304N Substitution - Missense 3:196362612-196362612 - TCGA-F4-6570-01 COSM1421999 c.358C>T p.R120W Substitution - Missense 3:196391923-196391923 - TCGA-EE-A2MD-06 COSM3591863 c.686C>T p.S229F Substitution - Missense 3:196369441-196369441 - Pat_44_A COSM5864193 c.1337G>A p.G446E Substitution - Missense 3:196356818-196356818 - TCGA-85-6561-01 COSM730532 c.278C>A p.P93Q Substitution - Missense 3:196402963-196402963 - CHC1185T COSM4803329 c.1433G>T p.C478F Substitution - Missense 3:196356722-196356722 - OSCC-GB_00190111 COSM3714512 c.88G>T p.V30L Substitution - Missense 3:196407379-196407379 - 1N26-VS-1T26 COSM4973538 c.758A>C p.Q253P Substitution - Missense 3:196368104-196368104 - 8058178 COSM3392304 c.910G>A p.D304N Substitution - Missense 3:196362612-196362612 - TCGA-BG-A0M8-01 COSM1043031 c.994G>A p.V332I Substitution - Missense 3:196362528-196362528 - LUAD-YINHD COSM350841 c.882C>T p.I294I Substitution - coding silent 3:196362640-196362640 - TTC466 COSM4584203 c.28T>C p.S10P Substitution - Missense 3:196432372-196432372 - CCK81 COSM2947307 c.646T>C p.Y216H Substitution - Missense 3:196369481-196369481 - Pat_74_A COSM5864195 c.992_993CC>TT p.S331F Substitution - Missense 3:196362529-196362530 - TCGA-BS-A0UF-01 COSM1043027 c.1410T>G p.I470M Substitution - Missense 3:196356745-196356745 - PD11816a COSM5801694 c.1212_1216delGGGGA p.E404fs*29 Deletion - Frameshift 3:196362306-196362310 - TCGA-AP-A051-01 COSM1043035 c.166G>A p.A56T Substitution - Missense 3:196407301-196407301 - TCGA-13-0884-01 COSM76938 c.736G>T p.D246Y Substitution - Missense 3:196368126-196368126 - Pat_74_B COSM5864195 c.992_993CC>TT p.S331F Substitution - Missense 3:196362529-196362530 - TCGA-EE-A3JH-06 COSM3591864 c.603C>T p.F201F Substitution - coding silent 3:196371908-196371908 - TCGA-18-3412-01 COSM730533 c.1368C>A p.T456T Substitution - coding silent 3:196356787-196356787 - TCGA-AP-A0LM-01 COSM1043034 c.314G>A p.R105H Substitution - Missense 3:196393595-196393595 - YUKAT COSM5398957 c.426C>T p.F142F Substitution - coding silent 3:196391855-196391855 - TCGA-AG-A002-01 COSM264533 c.91G>T p.G31* Substitution - Nonsense 3:196407376-196407376 - TCGA-CD-A48A-01 COSM4116390 c.228A>C p.E76D Substitution - Missense 3:196403013-196403013 - C135 COSM4618319 c.428G>A p.R143Q Substitution - Missense 3:196391853-196391853 - LUAD-S00486 COSM248195 c.827C>T p.A276V Substitution - Missense 3:196368035-196368035 - TCGA-BS-A0UV-01 COSM1043033 c.550A>G p.N184D Substitution - Missense 3:196371961-196371961 - YUSCA COSM5398956 c.1367C>T p.T456I Substitution - Missense 3:196356788-196356788 - TCGA-BR-8284-01 COSM4116388 c.615+1G>A p.? Unknown 3:196371895-196371895 - TCGA-BH-A2L8-01 COSM3847152 c.1285C>G p.L429V Substitution - Missense 3:196361867-196361867 - TCGA-AP-A0LO-01 COSM1043032 c.687C>T p.S229S Substitution - coding silent 3:196369440-196369440 - ESCC_BICR_014T COSM5436230 c.311C>T p.A104V Substitution - Missense 3:196393598-196393598 - TCGA-AP-A051-01 COSM1043026 c.1467T>G p.N489K Substitution - Missense 3:196356688-196356688 - cSCCP8 COSM140474 c.481G>T p.G161C Substitution - Missense 3:196372030-196372030 - I2L-P8-Tumor-Biopsy COSM5355698 c.815C>A p.P272H Substitution - Missense 3:196368047-196368047 - PR-09-5094 COSM248195 c.827C>T p.A276V Substitution - Missense 3:196368035-196368035 - TK10 COSM1670807 c.515T>G p.I172S Substitution - Missense 3:196371996-196371996 - Pat_01_B COSM5864194 c.1270delA p.R424fs*13 Deletion - Frameshift 3:196361882-196361882 - 3006_T COSM3945349 c.794A>G p.D265G Substitution - Missense 3:196368068-196368068 - PCSI_0227_Pa_P_526 COSM4962313 c.5C>T p.A2V Substitution - Missense 3:196432395-196432395 - TCGA-B5-A11Y-01 COSM1043028 c.1351C>T p.R451C Substitution - Missense 3:196356804-196356804 - 8029781 COSM4387632 c.1109C>T p.P370L Substitution - Missense 3:196362413-196362413 - TCGA-A2-A3Y0-01 COSM3847153 c.1237G>C p.A413P Substitution - Missense 3:196361915-196361915 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.518524 3q29

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A T IntronicSNV . c.1228+24T>A 3 196089141 NSCLC C A Missense p.D246Y c.736G>T 3 196094997 OV C A Missense p.S326I c.977G>T 3 196089416 LUAD C A Synonymous p.L168L c.504G>T 3 196098878 BRCA C G Missense p.E155Q c.463G>C 3 196118689 OV C T Missense p.D336N c.1006G>A 3 196089387 HNSC C T Missense p.D421N c.1261G>A 3 196088762 LUAD C T Missense p.G259S c.775G>A 3 196094958 LGG C T Missense p.R78H c.233G>A 3 196129879 HNSC G A 3-UTRSNV . c.1467+551C>T 3 196083008 HC G A IntronicSNV . c.73+95C>T 3 196159103 ESCA G A Missense p.A276V c.827C>T 3 196094906 LUSC G A Missense p.P375S c.1123C>T 3 196089270 CM G A Missense p.P459L c.1376C>T 3 196083650 CM G A Missense p.R102W c.304C>T 3 196120476 ESCA G A Missense p.R451C c.1351C>T 3 196083675 UCEC G A Missense p.S229F c.686C>T 3 196096312 CM G A Synonymous p.F201F c.603C>T 3 196098779 CM G A Synonymous p.L141L c.421C>T 3 196118731 CM G A Synonymous p.R185R c.555C>T 3 196098827 HNSC G A Synonymous p.S229S c.687C>T 3 196096311 UCEC G T Missense p.P448Q c.1343C>A 3 196083683 SCLC G T Missense p.P93Q c.278C>A 3 196129834 LUSC G T Synonymous p.T456T c.1368C>A 3 196083658 LUSC T A Missense p.D209V c.626A>T 3 196096372 LGG T C 3-UTRSNV . c.1467+1492A>G 3 196082067 DLBCL T C Missense p.Y220C c.659A>G 3 196096339 HNSC T G Missense p.E317D c.951A>C 3 196089442 COREAD