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 4 88097923 88097923 + Silent SNP T T G TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 g.chr4:88097923T>G c.1194A>C c.(1192-1194)tcA>tcC p.S398S BLCA 4 88099702 88099702 + Silent SNP G G A TCGA-H4-A2HO-01A-11D-A17V-08 TCGA-H4-A2HO-10A-01D-A17V-08 g.chr4:88099702G>A c.1023C>T c.(1021-1023)atC>atT p.I341I BLCA 4 88104368 88104368 + Silent SNP C C T TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chr4:88104368C>T c.939G>A c.(937-939)agG>agA p.R313R BLCA 4 88106495 88106495 + Missense_Mutation SNP C C T TCGA-BT-A42F-01A-11D-A23U-08 TCGA-BT-A42F-10A-01D-A23U-08 g.chr4:88106495C>T c.673G>A c.(673-675)Gaa>Aaa p.E225K BLCA 4 88106495 88106495 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr4:88106495C>T c.673G>A c.(673-675)Gaa>Aaa p.E225K BLCA 4 88106561 88106561 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr4:88106561C>T c.607G>A c.(607-609)Gaa>Aaa p.E203K BLCA 4 88106843 88106843 + Missense_Mutation SNP C C G TCGA-BT-A42F-01A-11D-A23U-08 TCGA-BT-A42F-10A-01D-A23U-08 g.chr4:88106843C>G c.325G>C c.(325-327)Gag>Cag p.E109Q BRCA 4 88085091 88085091 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr4:88085091C>T c.1678G>A c.(1678-1680)Ggt>Agt p.G560S BRCA 4 88085134 88085134 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr4:88085134A>C c.1635T>G c.(1633-1635)ggT>ggG p.G545G BRCA 4 88099658 88099658 + Missense_Mutation SNP C C T TCGA-A2-A3XZ-01A-42D-A23C-09 TCGA-A2-A3XZ-10A-01D-A23C-09 g.chr4:88099658C>T c.1067G>A c.(1066-1068)aGg>aAg p.R356K BRCA 4 88099661 88099661 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr4:88099661C>T c.1064G>A c.(1063-1065)cGa>cAa p.R355Q BRCA 4 88104522 88104522 + Missense_Mutation SNP G G A TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 g.chr4:88104522G>A c.785C>T c.(784-786)cCg>cTg p.P262L BRCA 4 88106441 88106441 + Nonsense_Mutation SNP G G A TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 g.chr4:88106441G>A c.727C>T c.(727-729)Cag>Tag p.Q243* BRCA 4 88106756 88106756 + Missense_Mutation SNP G G T TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 g.chr4:88106756G>T c.412C>A c.(412-414)Cag>Aag p.Q138K BRCA 4 88106843 88106843 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr4:88106843C>G c.325G>C c.(325-327)Gag>Cag p.E109Q CESC 4 88084771 88084771 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 g.chr4:88084771G>A c.1763C>T c.(1762-1764)tCt>tTt p.S588F CESC 4 88099767 88099767 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr4:88099767G>C c.958C>G c.(958-960)Ctg>Gtg p.L320V CESC 4 88116574 88116574 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr4:88116574C>G c.118G>C c.(118-120)Gat>Cat p.D40H COAD 4 88091665 88091665 + Silent SNP A A C TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr4:88091665A>C c.1311T>G c.(1309-1311)tcT>tcG p.S437S COAD 4 88099711 88099711 + Nonsense_Mutation SNP G G T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr4:88099711G>T c.1014C>A c.(1012-1014)tgC>tgA p.C338* COAD 4 88104435 88104435 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:88104435T>G c.872A>C c.(871-873)aAt>aCt p.N291T COAD 4 88106492 88106492 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:88106492T>G c.676A>C c.(676-678)Aat>Cat p.N226H COAD 4 88106626 88106626 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:88106626C>T c.542G>A c.(541-543)cGa>cAa p.R181Q COAD 4 88106911 88106911 + Missense_Mutation SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr4:88106911G>A c.257C>T c.(256-258)gCt>gTt p.A86V COADREAD 4 88091665 88091665 + Silent SNP A A C TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr4:88091665A>C c.1311T>G c.(1309-1311)tcT>tcG p.S437S COADREAD 4 88099711 88099711 + Nonsense_Mutation SNP G G T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr4:88099711G>T c.1014C>A c.(1012-1014)tgC>tgA p.C338* COADREAD 4 88104435 88104435 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:88104435T>G c.872A>C c.(871-873)aAt>aCt p.N291T COADREAD 4 88106492 88106492 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:88106492T>G c.676A>C c.(676-678)Aat>Cat p.N226H COADREAD 4 88106626 88106626 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:88106626C>T c.542G>A c.(541-543)cGa>cAa p.R181Q COADREAD 4 88106911 88106911 + Missense_Mutation SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr4:88106911G>A c.257C>T c.(256-258)gCt>gTt p.A86V ESCA 4 88085157 88085157 + Missense_Mutation SNP C C A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 g.chr4:88085157C>A c.1612G>T c.(1612-1614)Gca>Tca p.A538S ESCA 4 88097982 88097982 + Missense_Mutation SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 g.chr4:88097982G>A c.1135C>T c.(1135-1137)Cat>Tat p.H379Y ESCA 4 88104481 88104481 + Missense_Mutation SNP C C T TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 g.chr4:88104481C>T c.826G>A c.(826-828)Gtc>Atc p.V276I GBM 4 88091238 88091238 + Silent SNP G G A TCGA-76-4928-01B-01D-1486-08 TCGA-76-4928-10A-01D-1486-08 g.chr4:88091238G>A c.1530C>T c.(1528-1530)taC>taT p.Y510Y GBMLGG 4 88085190 88085190 + Missense_Mutation SNP A A G TCGA-DH-5140-01A-01D-1468-08 TCGA-DH-5140-10A-01D-1468-08 g.chr4:88085190A>G c.1579T>C c.(1579-1581)Tat>Cat p.Y527H GBMLGG 4 88091238 88091238 + Silent SNP G G A TCGA-76-4928-01B-01D-1486-08 TCGA-76-4928-10A-01D-1486-08 g.chr4:88091238G>A c.1530C>T c.(1528-1530)taC>taT p.Y510Y GBMLGG 4 88091688 88091688 + Missense_Mutation SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 g.chr4:88091688C>T c.1288G>A c.(1288-1290)Gtg>Atg p.V430M GBMLGG 4 88106791 88106791 + Missense_Mutation SNP T T C TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 g.chr4:88106791T>C c.377A>G c.(376-378)tAt>tGt p.Y126C HNSC 4 88116485 88116485 + Silent SNP G G A TCGA-CV-A461-01A-41D-A25Y-08 TCGA-CV-A461-10A-01D-A25Y-08 g.chr4:88116485G>A c.207C>T c.(205-207)gtC>gtT p.V69V KIPAN 4 88091657 88091657 + Missense_Mutation SNP C C A TCGA-SX-A71U-01A-12D-A33Q-10 TCGA-SX-A71U-10A-01D-A33Q-10 g.chr4:88091657C>A c.1319G>T c.(1318-1320)tGg>tTg p.W440L KIPAN 4 88099693 88099693 + Silent SNP G G A TCGA-B0-4841-01A-01D-1361-10 TCGA-B0-4841-11A-01D-1361-10 g.chr4:88099693G>A c.1032C>T c.(1030-1032)aaC>aaT p.N344N KIPAN 4 88106697 88106697 + Silent SNP A A G TCGA-BP-4974-01A-01D-1462-08 TCGA-BP-4974-11A-01D-1462-08 g.chr4:88106697A>G c.471T>C c.(469-471)tgT>tgC p.C157C KIRC 4 88099693 88099693 + Silent SNP G G A TCGA-B0-4841-01A-01D-1361-10 TCGA-B0-4841-11A-01D-1361-10 g.chr4:88099693G>A c.1032C>T c.(1030-1032)aaC>aaT p.N344N KIRC 4 88106697 88106697 + Silent SNP A A G TCGA-BP-4974-01A-01D-1462-08 TCGA-BP-4974-11A-01D-1462-08 g.chr4:88106697A>G c.471T>C c.(469-471)tgT>tgC p.C157C KIRP 4 88091657 88091657 + Missense_Mutation SNP C C A TCGA-SX-A71U-01A-12D-A33Q-10 TCGA-SX-A71U-10A-01D-A33Q-10 g.chr4:88091657C>A c.1319G>T c.(1318-1320)tGg>tTg p.W440L LGG 4 88085190 88085190 + Missense_Mutation SNP A A G TCGA-DH-5140-01A-01D-1468-08 TCGA-DH-5140-10A-01D-1468-08 g.chr4:88085190A>G c.1579T>C c.(1579-1581)Tat>Cat p.Y527H LGG 4 88091688 88091688 + Missense_Mutation SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 g.chr4:88091688C>T c.1288G>A c.(1288-1290)Gtg>Atg p.V430M LGG 4 88106791 88106791 + Missense_Mutation SNP T T C TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 g.chr4:88106791T>C c.377A>G c.(376-378)tAt>tGt p.Y126C LIHC 4 88098001 88098001 + Silent SNP A A G TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr4:88098001A>G c.1116T>C c.(1114-1116)ggT>ggC p.G372G LUAD 4 88106788 88106788 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr4:88106788G>T c.380C>A c.(379-381)tCt>tAt p.S127Y LUAD 4 88106793 88106793 + Silent SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 g.chr4:88106793G>A c.375C>T c.(373-375)gtC>gtT p.V125V LUSC 4 88106539 88106539 + Missense_Mutation SNP G G T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr4:88106539G>T c.629C>A c.(628-630)cCg>cAg p.P210Q LUSC 4 88116479 88116479 + Silent SNP G G C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr4:88116479G>C c.213C>G c.(211-213)ctC>ctG p.L71L OV 4 88091765 88091765 + Missense_Mutation SNP C C A TCGA-29-1784-01A-02W-0633-09 TCGA-29-1784-10A-01W-0634-09 g.chr4:88091765C>A c.1211G>T c.(1210-1212)cGa>cTa p.R404L PAAD 4 88084792 88084792 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr4:88084792C>A c.1742G>T c.(1741-1743)tGg>tTg p.W581L PRAD 4 88085050 88085050 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr4:88085050C>T c.1719G>A c.(1717-1719)gcG>gcA p.A573A PRAD 4 88085121 88085121 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr4:88085121C>T c.1648G>A c.(1648-1650)Gca>Aca p.A550T PRAD 4 88116634 88116634 + Frame_Shift_Del DEL T T - TCGA-HC-7818-01A-11D-2114-08 TCGA-HC-7818-10A-01D-2115-08 g.chr4:88116634delT c.58delA c.(58-60)aggfs p.R20fs SKCM 4 88084715 88084715 + Nonsense_Mutation SNP G G A TCGA-EE-A2GP-06A-11D-A197-08 TCGA-EE-A2GP-10A-01D-A199-08 g.chr4:88084715G>A c.1819C>T c.(1819-1821)Cga>Tga p.R607* SKCM 4 88085181 88085181 + Nonsense_Mutation SNP G G A TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr4:88085181G>A c.1588C>T c.(1588-1590)Cga>Tga p.R530* SKCM 4 88085182 88085182 + Silent SNP G G A TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr4:88085182G>A c.1587C>T c.(1585-1587)ccC>ccT p.P529P SKCM 4 88085211 88085211 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr4:88085211G>A c.1558C>T c.(1558-1560)Cct>Tct p.P520S SKCM 4 88091750 88091750 + Missense_Mutation SNP G G A TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chr4:88091750G>A c.1226C>T c.(1225-1227)gCt>gTt p.A409V SKCM 4 88106515 88106515 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:88106515G>A c.653C>T c.(652-654)tCc>tTc p.S218F SKCM 4 88106875 88106875 + Missense_Mutation SNP G G A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr4:88106875G>A c.293C>T c.(292-294)tCt>tTt p.S98F SKCM 4 88116516 88116516 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr4:88116516C>T c.176G>A c.(175-177)cGa>cAa p.R59Q

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 4 88097923 88097923 single base substitution T G 3_prime_UTR_variant BLCA-US 4 88097923 88097923 single base substitution T G exon_variant BLCA-US 4 88097923 88097923 single base substitution T G intron_variant BLCA-US 4 88097923 88097923 single base substitution T G synonymous_variant S215S 645A>C BLCA-US 4 88097923 88097923 single base substitution T G synonymous_variant S322S 966A>C BLCA-US 4 88097923 88097923 single base substitution T G synonymous_variant S398S 1194A>C BLCA-US 4 88097923 88097923 single base substitution T G synonymous_variant S47S 141A>C BLCA-US 4 88099702 88099702 single base substitution G A 3_prime_UTR_variant BLCA-US 4 88099702 88099702 single base substitution G A 5_prime_UTR_variant BLCA-US 4 88099702 88099702 single base substitution G A exon_variant BLCA-US 4 88099702 88099702 single base substitution G A intron_variant BLCA-US 4 88099702 88099702 single base substitution G A synonymous_variant I158I 474C>T BLCA-US 4 88099702 88099702 single base substitution G A synonymous_variant I265I 795C>T BLCA-US 4 88099702 88099702 single base substitution G A synonymous_variant I341I 1023C>T BOCA-FR 4 88083837 88083837 single base substitution T C 3_prime_UTR_variant BOCA-FR 4 88083837 88083837 single base substitution T C downstream_gene_variant BRCA-EU 4 88076357 88076357 single base substitution T A downstream_gene_variant BRCA-EU 4 88077600 88077600 single base substitution G C downstream_gene_variant BRCA-EU 4 88080342 88080342 insertion of <=200bp - T downstream_gene_variant BRCA-EU 4 88081144 88081144 single base substitution C T downstream_gene_variant BRCA-EU 4 88081395 88081408 deletion of <=200bp AAATGGTTTTAAGA - 3_prime_UTR_variant BRCA-EU 4 88081395 88081408 deletion of <=200bp AAATGGTTTTAAGA - downstream_gene_variant BRCA-EU 4 88082550 88082550 single base substitution C T 3_prime_UTR_variant BRCA-EU 4 88082550 88082550 single base substitution C T downstream_gene_variant BRCA-EU 4 88084018 88084018 single base substitution A G 3_prime_UTR_variant BRCA-EU 4 88084018 88084018 single base substitution A G downstream_gene_variant BRCA-EU 4 88085678 88085678 insertion of <=200bp - A intron_variant BRCA-EU 4 88087062 88087062 single base substitution A G downstream_gene_variant BRCA-EU 4 88087062 88087062 single base substitution A G intron_variant BRCA-EU 4 88088726 88088728 deletion of <=200bp AAG - downstream_gene_variant BRCA-EU 4 88088726 88088728 deletion of <=200bp AAG - intron_variant BRCA-EU 4 88089398 88089398 single base substitution G A downstream_gene_variant BRCA-EU 4 88089398 88089398 single base substitution G A intron_variant BRCA-EU 4 88089875 88089875 insertion of <=200bp - TATATATATGTGTATATATATACGTA downstream_gene_variant BRCA-EU 4 88089875 88089875 insertion of <=200bp - TATATATATGTGTATATATATACGTA intron_variant BRCA-EU 4 88091718 88091718 single base substitution C A 3_prime_UTR_variant BRCA-EU 4 88091718 88091718 single base substitution C A exon_variant BRCA-EU 4 88091718 88091718 single base substitution C A missense_variant G237W 709G>T BRCA-EU 4 88091718 88091718 single base substitution C A missense_variant G344W 1030G>T BRCA-EU 4 88091718 88091718 single base substitution C A missense_variant G420W 1258G>T BRCA-EU 4 88091718 88091718 single base substitution C A missense_variant G69W 205G>T BRCA-EU 4 88092725 88092725 single base substitution G A intron_variant BRCA-EU 4 88093717 88093717 single base substitution A T intron_variant BRCA-EU 4 88094302 88094302 single base substitution C T intron_variant BRCA-EU 4 88095237 88095237 single base substitution G A intron_variant BRCA-EU 4 88097010 88097010 single base substitution G A intron_variant BRCA-EU 4 88098179 88098179 single base substitution G A intron_variant BRCA-EU 4 88098957 88098957 single base substitution C A intron_variant BRCA-EU 4 88099863 88099863 deletion of <=200bp A - intron_variant BRCA-EU 4 88102194 88102194 single base substitution A T intron_variant BRCA-EU 4 88102558 88102558 deletion of <=200bp A - intron_variant BRCA-EU 4 88102896 88102896 single base substitution C G intron_variant BRCA-EU 4 88103627 88103627 single base substitution A G intron_variant BRCA-EU 4 88104059 88104059 single base substitution A G intron_variant BRCA-EU 4 88104066 88104066 single base substitution A C intron_variant BRCA-EU 4 88104670 88104670 single base substitution C G intron_variant BRCA-EU 4 88106517 88106517 single base substitution C A intron_variant BRCA-EU 4 88106517 88106517 single base substitution C A missense_variant L141F 423G>T BRCA-EU 4 88106517 88106517 single base substitution C A missense_variant L217F 651G>T BRCA-EU 4 88107425 88107425 single base substitution C T intron_variant BRCA-EU 4 88108922 88108922 single base substitution T A intron_variant BRCA-EU 4 88110369 88110369 single base substitution C A intron_variant BRCA-EU 4 88111581 88111581 single base substitution G A intron_variant BRCA-EU 4 88111783 88111783 single base substitution G A intron_variant BRCA-EU 4 88113980 88113980 single base substitution C T intron_variant BRCA-EU 4 88114662 88114662 single base substitution A G intron_variant BRCA-EU 4 88114966 88114966 single base substitution A G intron_variant BRCA-EU 4 88115050 88115050 single base substitution G A intron_variant BRCA-EU 4 88118604 88118604 single base substitution C G intron_variant BRCA-EU 4 88118692 88118692 single base substitution T A intron_variant BRCA-EU 4 88119421 88119421 single base substitution G A intron_variant BRCA-EU 4 88119798 88119798 single base substitution G T intron_variant BRCA-EU 4 88120071 88120071 single base substitution C T intron_variant BRCA-EU 4 88124338 88124338 single base substitution A G intron_variant BRCA-EU 4 88125924 88125924 single base substitution G A intron_variant BRCA-EU 4 88128137 88128137 deletion of <=200bp T - intron_variant BRCA-EU 4 88129036 88129036 single base substitution A G intron_variant BRCA-EU 4 88129218 88129218 single base substitution A G intron_variant BRCA-EU 4 88130550 88130550 deletion of <=200bp T - intron_variant BRCA-EU 4 88132874 88132874 single base substitution C T intron_variant BRCA-EU 4 88133046 88133046 single base substitution C A intron_variant BRCA-EU 4 88133451 88133451 deletion of <=200bp T - intron_variant BRCA-EU 4 88134440 88134440 single base substitution T G intron_variant BRCA-EU 4 88135337 88135337 single base substitution G C intron_variant BRCA-EU 4 88137479 88137479 insertion of <=200bp - A downstream_gene_variant BRCA-EU 4 88137479 88137479 insertion of <=200bp - A intron_variant BRCA-EU 4 88141389 88141389 single base substitution G A 5_prime_UTR_variant BRCA-EU 4 88141389 88141389 single base substitution G A exon_variant BRCA-EU 4 88141389 88141389 single base substitution G A intron_variant BRCA-EU 4 88142666 88142666 single base substitution A C intron_variant BRCA-EU 4 88142666 88142666 single base substitution A C upstream_gene_variant BRCA-EU 4 88143348 88143348 single base substitution G A intron_variant BRCA-EU 4 88143348 88143348 single base substitution G A upstream_gene_variant BRCA-EU 4 88144001 88144001 single base substitution G A intron_variant BRCA-EU 4 88144001 88144001 single base substitution G A upstream_gene_variant BRCA-EU 4 88144863 88144863 single base substitution G A intron_variant BRCA-EU 4 88144863 88144863 single base substitution G A upstream_gene_variant BRCA-EU 4 88145162 88145162 single base substitution G A intron_variant BRCA-EU 4 88145162 88145162 single base substitution G A upstream_gene_variant BRCA-EU 4 88145482 88145482 single base substitution G C intron_variant BRCA-EU 4 88145482 88145482 single base substitution G C upstream_gene_variant BRCA-EU 4 88148229 88148229 single base substitution A T intron_variant BRCA-EU 4 88148515 88148515 single base substitution G A intron_variant BRCA-EU 4 88149068 88149068 single base substitution C G intron_variant BRCA-EU 4 88150126 88150126 single base substitution C T intron_variant BRCA-EU 4 88150169 88150169 deletion of <=200bp A - intron_variant BRCA-EU 4 88151446 88151446 single base substitution C G intron_variant BRCA-EU 4 88151537 88151537 single base substitution T C intron_variant BRCA-EU 4 88151955 88151955 single base substitution C T intron_variant BRCA-EU 4 88152424 88152427 deletion of <=200bp CTTT - intron_variant BRCA-EU 4 88153345 88153345 single base substitution G T intron_variant BRCA-EU 4 88153381 88153381 single base substitution A G intron_variant BRCA-EU 4 88153767 88153767 single base substitution T C intron_variant BRCA-EU 4 88154052 88154052 single base substitution G T intron_variant BRCA-EU 4 88156925 88156925 single base substitution C G intron_variant BRCA-EU 4 88158275 88158275 single base substitution G A intron_variant BRCA-EU 4 88160116 88160116 deletion of <=200bp T - intron_variant BRCA-EU 4 88160141 88160141 single base substitution G C intron_variant BRCA-EU 4 88160497 88160497 single base substitution G C intron_variant BRCA-EU 4 88161064 88161064 single base substitution A C intron_variant BRCA-EU 4 88161938 88161939 deletion of <=200bp TG - upstream_gene_variant BRCA-EU 4 88163817 88163817 single base substitution G C upstream_gene_variant BRCA-EU 4 88164044 88164044 single base substitution A C upstream_gene_variant BRCA-EU 4 88164829 88164829 single base substitution C T upstream_gene_variant BRCA-EU 4 88165987 88165987 single base substitution A C upstream_gene_variant BRCA-FR 4 88079760 88079760 single base substitution C T downstream_gene_variant BRCA-FR 4 88089398 88089398 single base substitution G A downstream_gene_variant BRCA-FR 4 88089398 88089398 single base substitution G A intron_variant BRCA-FR 4 88091718 88091718 single base substitution C A 3_prime_UTR_variant BRCA-FR 4 88091718 88091718 single base substitution C A exon_variant BRCA-FR 4 88091718 88091718 single base substitution C A missense_variant G237W 709G>T BRCA-FR 4 88091718 88091718 single base substitution C A missense_variant G344W 1030G>T BRCA-FR 4 88091718 88091718 single base substitution C A missense_variant G420W 1258G>T BRCA-FR 4 88091718 88091718 single base substitution C A missense_variant G69W 205G>T BRCA-FR 4 88092716 88092716 single base substitution C T intron_variant BRCA-FR 4 88111581 88111581 single base substitution G A intron_variant BRCA-FR 4 88111783 88111783 single base substitution G A intron_variant BRCA-FR 4 88119421 88119421 single base substitution G A intron_variant BRCA-FR 4 88131612 88131612 single base substitution G A intron_variant BRCA-FR 4 88132874 88132874 single base substitution C T intron_variant BRCA-FR 4 88143348 88143348 single base substitution G A intron_variant BRCA-FR 4 88143348 88143348 single base substitution G A upstream_gene_variant BRCA-FR 4 88146518 88146518 single base substitution A C intron_variant BRCA-FR 4 88146518 88146518 single base substitution A C upstream_gene_variant BRCA-FR 4 88149068 88149068 single base substitution C G intron_variant BRCA-FR 4 88156925 88156925 single base substitution C G intron_variant BRCA-UK 4 88077600 88077600 single base substitution G C downstream_gene_variant BRCA-UK 4 88116512 88116512 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant BRCA-UK 4 88116512 88116512 single base substitution A C exon_variant BRCA-UK 4 88116512 88116512 single base substitution A C intron_variant BRCA-UK 4 88116512 88116512 single base substitution A C missense_variant F60L 180T>G BRCA-UK 4 88124338 88124338 single base substitution A G intron_variant BRCA-UK 4 88134440 88134440 single base substitution T G intron_variant BRCA-UK 4 88139724 88139724 single base substitution G A downstream_gene_variant BRCA-UK 4 88139724 88139724 single base substitution G A intron_variant BRCA-UK 4 88142666 88142666 single base substitution A C intron_variant BRCA-UK 4 88142666 88142666 single base substitution A C upstream_gene_variant BRCA-US 4 88085091 88085091 single base substitution C T 3_prime_UTR_variant BRCA-US 4 88085091 88085091 single base substitution C T exon_variant BRCA-US 4 88085091 88085091 single base substitution C T missense_variant G209S 625G>A BRCA-US 4 88085091 88085091 single base substitution C T missense_variant G377S 1129G>A BRCA-US 4 88085091 88085091 single base substitution C T missense_variant G484S 1450G>A BRCA-US 4 88085091 88085091 single base substitution C T missense_variant G560S 1678G>A BRCA-US 4 88085134 88085134 single base substitution A C 3_prime_UTR_variant BRCA-US 4 88085134 88085134 single base substitution A C exon_variant BRCA-US 4 88085134 88085134 single base substitution A C synonymous_variant G194G 582T>G BRCA-US 4 88085134 88085134 single base substitution A C synonymous_variant G362G 1086T>G BRCA-US 4 88085134 88085134 single base substitution A C synonymous_variant G469G 1407T>G BRCA-US 4 88085134 88085134 single base substitution A C synonymous_variant G545G 1635T>G BRCA-US 4 88099658 88099658 single base substitution C T 3_prime_UTR_variant BRCA-US 4 88099658 88099658 single base substitution C T exon_variant BRCA-US 4 88099658 88099658 single base substitution C T intron_variant BRCA-US 4 88099658 88099658 single base substitution C T missense_variant R173K 518G>A BRCA-US 4 88099658 88099658 single base substitution C T missense_variant R280K 839G>A BRCA-US 4 88099658 88099658 single base substitution C T missense_variant R356K 1067G>A BRCA-US 4 88099658 88099658 single base substitution C T missense_variant R5K 14G>A BRCA-US 4 88099661 88099661 single base substitution C T 3_prime_UTR_variant BRCA-US 4 88099661 88099661 single base substitution C T exon_variant BRCA-US 4 88099661 88099661 single base substitution C T intron_variant BRCA-US 4 88099661 88099661 single base substitution C T missense_variant R172Q 515G>A BRCA-US 4 88099661 88099661 single base substitution C T missense_variant R279Q 836G>A BRCA-US 4 88099661 88099661 single base substitution C T missense_variant R355Q 1064G>A BRCA-US 4 88099661 88099661 single base substitution C T missense_variant R4Q 11G>A BRCA-US 4 88104522 88104522 single base substitution G A intron_variant BRCA-US 4 88104522 88104522 single base substitution G A missense_variant P186L 557C>T BRCA-US 4 88104522 88104522 single base substitution G A missense_variant P262L 785C>T BRCA-US 4 88104522 88104522 single base substitution G A missense_variant P79L 236C>T BRCA-US 4 88106441 88106441 single base substitution G A intron_variant BRCA-US 4 88106441 88106441 single base substitution G A stop_gained Q167* 499C>T BRCA-US 4 88106441 88106441 single base substitution G A stop_gained Q243* 727C>T BRCA-US 4 88106756 88106756 single base substitution G T intron_variant BRCA-US 4 88106756 88106756 single base substitution G T missense_variant Q138K 412C>A BRCA-US 4 88106843 88106843 single base substitution C G intron_variant BRCA-US 4 88106843 88106843 single base substitution C G missense_variant E109Q 325G>C CESC-US 4 88084771 88084771 single base substitution G A 3_prime_UTR_variant CESC-US 4 88084771 88084771 single base substitution G A downstream_gene_variant CESC-US 4 88084771 88084771 single base substitution G A missense_variant S237F 710C>T CESC-US 4 88084771 88084771 single base substitution G A missense_variant S405F 1214C>T CESC-US 4 88084771 88084771 single base substitution G A missense_variant S512F 1535C>T CESC-US 4 88084771 88084771 single base substitution G A missense_variant S588F 1763C>T CESC-US 4 88099767 88099767 single base substitution G C 5_prime_UTR_variant CESC-US 4 88099767 88099767 single base substitution G C exon_variant CESC-US 4 88099767 88099767 single base substitution G C intron_variant CESC-US 4 88099767 88099767 single base substitution G C missense_variant L137V 409C>G CESC-US 4 88099767 88099767 single base substitution G C missense_variant L244V 730C>G CESC-US 4 88099767 88099767 single base substitution G C missense_variant L320V 958C>G CESC-US 4 88116574 88116574 single base substitution C G 5_prime_UTR_variant CESC-US 4 88116574 88116574 single base substitution C G exon_variant CESC-US 4 88116574 88116574 single base substitution C G intron_variant CESC-US 4 88116574 88116574 single base substitution C G missense_variant D40H 118G>C CLLE-ES 4 88091291 88091291 single base substitution T C 3_prime_UTR_variant CLLE-ES 4 88091291 88091291 single base substitution T C downstream_gene_variant CLLE-ES 4 88091291 88091291 single base substitution T C exon_variant CLLE-ES 4 88091291 88091291 single base substitution T C missense_variant M142V 424A>G CLLE-ES 4 88091291 88091291 single base substitution T C missense_variant M310V 928A>G CLLE-ES 4 88091291 88091291 single base substitution T C missense_variant M417V 1249A>G CLLE-ES 4 88091291 88091291 single base substitution T C missense_variant M493V 1477A>G CLLE-ES 4 88112538 88112538 single base substitution C T intron_variant CLLE-ES 4 88136115 88136115 single base substitution T A downstream_gene_variant CLLE-ES 4 88136115 88136115 single base substitution T A intron_variant CLLE-ES 4 88145419 88145419 single base substitution C A intron_variant CLLE-ES 4 88145419 88145419 single base substitution C A upstream_gene_variant CLLE-ES 4 88150666 88150666 single base substitution C A intron_variant CLLE-ES 4 88151721 88151721 single base substitution C T intron_variant CLLE-ES 4 88160496 88160496 single base substitution A G intron_variant CLLE-ES 4 88166178 88166178 single base substitution T C upstream_gene_variant COAD-US 4 88104435 88104435 single base substitution T G intron_variant COAD-US 4 88104435 88104435 single base substitution T G missense_variant N108T 323A>C COAD-US 4 88104435 88104435 single base substitution T G missense_variant N215T 644A>C COAD-US 4 88104435 88104435 single base substitution T G missense_variant N291T 872A>C COAD-US 4 88106521 88106521 single base substitution A C intron_variant COAD-US 4 88106521 88106521 single base substitution A C missense_variant L140R 419T>G COAD-US 4 88106521 88106521 single base substitution A C missense_variant L216R 647T>G COAD-US 4 88106911 88106911 single base substitution G A intron_variant COAD-US 4 88106911 88106911 single base substitution G A missense_variant A86V 257C>T COCA-CN 4 88084912 88084912 single base substitution G T downstream_gene_variant COCA-CN 4 88084912 88084912 single base substitution G T intron_variant COCA-CN 4 88091214 88091214 single base substitution A G downstream_gene_variant COCA-CN 4 88091214 88091214 single base substitution A G intron_variant COCA-CN 4 88091427 88091427 single base substitution C T intron_variant COCA-CN 4 88106372 88106372 single base substitution T G intron_variant COCA-CN 4 88106629 88106629 single base substitution T G intron_variant COCA-CN 4 88106629 88106629 single base substitution T G missense_variant N104T 311A>C COCA-CN 4 88106629 88106629 single base substitution T G missense_variant N180T 539A>C COCA-CN 4 88106978 88106978 single base substitution C T intron_variant EOPC-DE 4 88095452 88095452 single base substitution C T intron_variant ESAD-UK 4 88080956 88080956 single base substitution G A downstream_gene_variant ESAD-UK 4 88084863 88084865 deletion of <=200bp AAA - downstream_gene_variant ESAD-UK 4 88084863 88084865 deletion of <=200bp AAA - intron_variant ESAD-UK 4 88090610 88090610 single base substitution T C downstream_gene_variant ESAD-UK 4 88090610 88090610 single base substitution T C intron_variant ESAD-UK 4 88091057 88091057 single base substitution T A downstream_gene_variant ESAD-UK 4 88091057 88091057 single base substitution T A intron_variant ESAD-UK 4 88091766 88091766 single base substitution G A splice_region_variant ESAD-UK 4 88091766 88091766 single base substitution G A stop_gained R221* 661C>T ESAD-UK 4 88091766 88091766 single base substitution G A stop_gained R328* 982C>T ESAD-UK 4 88091766 88091766 single base substitution G A stop_gained R404* 1210C>T ESAD-UK 4 88091766 88091766 single base substitution G A stop_gained R53* 157C>T ESAD-UK 4 88095436 88095436 single base substitution T G intron_variant ESAD-UK 4 88098430 88098430 single base substitution G T intron_variant ESAD-UK 4 88098442 88098442 single base substitution G A intron_variant ESAD-UK 4 88099863 88099863 insertion of <=200bp - A intron_variant ESAD-UK 4 88100719 88100719 single base substitution G A intron_variant ESAD-UK 4 88100793 88100793 single base substitution G A intron_variant ESAD-UK 4 88101359 88101359 single base substitution C A intron_variant ESAD-UK 4 88101629 88101629 single base substitution G T intron_variant ESAD-UK 4 88102284 88102284 single base substitution T C intron_variant ESAD-UK 4 88106161 88106161 single base substitution A T intron_variant ESAD-UK 4 88106314 88106314 single base substitution A G intron_variant ESAD-UK 4 88108028 88108028 single base substitution G A intron_variant ESAD-UK 4 88109330 88109330 single base substitution G A intron_variant ESAD-UK 4 88114108 88114108 single base substitution G A intron_variant ESAD-UK 4 88116646 88116646 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 4 88116646 88116646 single base substitution T C exon_variant ESAD-UK 4 88116646 88116646 single base substitution T C intron_variant ESAD-UK 4 88116646 88116646 single base substitution T C missense_variant T16A 46A>G ESAD-UK 4 88117195 88117195 single base substitution G C intron_variant ESAD-UK 4 88120767 88120767 single base substitution G A intron_variant ESAD-UK 4 88121372 88121372 single base substitution C T intron_variant ESAD-UK 4 88121999 88121999 single base substitution A C intron_variant ESAD-UK 4 88123393 88123393 deletion of <=200bp A - intron_variant ESAD-UK 4 88123603 88123603 deletion of <=200bp A - intron_variant ESAD-UK 4 88126154 88126154 insertion of <=200bp - A intron_variant ESAD-UK 4 88126638 88126638 single base substitution G C intron_variant ESAD-UK 4 88127420 88127420 single base substitution C T intron_variant ESAD-UK 4 88130173 88130173 single base substitution T C intron_variant ESAD-UK 4 88130343 88130343 insertion of <=200bp - A intron_variant ESAD-UK 4 88130587 88130587 single base substitution C T intron_variant ESAD-UK 4 88131534 88131534 single base substitution G A intron_variant ESAD-UK 4 88133107 88133107 single base substitution C A intron_variant ESAD-UK 4 88133210 88133210 single base substitution A G intron_variant ESAD-UK 4 88133821 88133821 single base substitution G A intron_variant ESAD-UK 4 88134061 88134061 single base substitution T C intron_variant ESAD-UK 4 88140130 88140130 deletion of <=200bp C - downstream_gene_variant ESAD-UK 4 88140130 88140130 deletion of <=200bp C - intron_variant ESAD-UK 4 88140252 88140252 single base substitution A T downstream_gene_variant ESAD-UK 4 88140252 88140252 single base substitution A T intron_variant ESAD-UK 4 88140658 88140658 single base substitution G A downstream_gene_variant ESAD-UK 4 88140658 88140658 single base substitution G A intron_variant ESAD-UK 4 88141030 88141030 single base substitution C T exon_variant ESAD-UK 4 88141030 88141030 single base substitution C T intron_variant ESAD-UK 4 88145225 88145225 single base substitution T A intron_variant ESAD-UK 4 88145225 88145225 single base substitution T A upstream_gene_variant ESAD-UK 4 88145752 88145752 single base substitution G T intron_variant ESAD-UK 4 88145752 88145752 single base substitution G T upstream_gene_variant ESAD-UK 4 88145772 88145772 single base substitution C T intron_variant ESAD-UK 4 88145772 88145772 single base substitution C T upstream_gene_variant ESAD-UK 4 88147005 88147005 single base substitution T G intron_variant ESAD-UK 4 88147299 88147299 single base substitution C A intron_variant ESAD-UK 4 88149182 88149182 deletion of <=200bp A - intron_variant ESAD-UK 4 88152382 88152382 single base substitution G A intron_variant ESAD-UK 4 88156496 88156496 single base substitution C T intron_variant ESAD-UK 4 88157109 88157109 single base substitution T G intron_variant ESAD-UK 4 88157776 88157776 single base substitution G A intron_variant ESAD-UK 4 88161449 88161449 single base substitution C T exon_variant ESAD-UK 4 88161482 88161482 single base substitution G A upstream_gene_variant ESAD-UK 4 88161622 88161622 single base substitution A C upstream_gene_variant ESAD-UK 4 88163874 88163874 single base substitution C T upstream_gene_variant ESAD-UK 4 88165614 88165614 single base substitution G T upstream_gene_variant GBM-US 4 88091238 88091238 single base substitution G A 3_prime_UTR_variant GBM-US 4 88091238 88091238 single base substitution G A downstream_gene_variant GBM-US 4 88091238 88091238 single base substitution G A exon_variant GBM-US 4 88091238 88091238 single base substitution G A synonymous_variant Y159Y 477C>T GBM-US 4 88091238 88091238 single base substitution G A synonymous_variant Y327Y 981C>T GBM-US 4 88091238 88091238 single base substitution G A synonymous_variant Y434Y 1302C>T GBM-US 4 88091238 88091238 single base substitution G A synonymous_variant Y510Y 1530C>T KIRC-US 4 88099693 88099693 single base substitution G A 3_prime_UTR_variant KIRC-US 4 88099693 88099693 single base substitution G A 5_prime_UTR_variant KIRC-US 4 88099693 88099693 single base substitution G A exon_variant KIRC-US 4 88099693 88099693 single base substitution G A intron_variant KIRC-US 4 88099693 88099693 single base substitution G A synonymous_variant N161N 483C>T KIRC-US 4 88099693 88099693 single base substitution G A synonymous_variant N268N 804C>T KIRC-US 4 88099693 88099693 single base substitution G A synonymous_variant N344N 1032C>T KIRC-US 4 88106697 88106697 single base substitution A G intron_variant KIRC-US 4 88106697 88106697 single base substitution A G synonymous_variant C157C 471T>C KIRC-US 4 88106697 88106697 single base substitution A G synonymous_variant C81C 243T>C KIRP-US 4 88091355 88091355 single base substitution C T 3_prime_UTR_variant KIRP-US 4 88091355 88091355 single base substitution C T exon_variant KIRP-US 4 88091355 88091355 single base substitution C T missense_variant M120I 360G>A KIRP-US 4 88091355 88091355 single base substitution C T missense_variant M288I 864G>A KIRP-US 4 88091355 88091355 single base substitution C T missense_variant M395I 1185G>A KIRP-US 4 88091355 88091355 single base substitution C T missense_variant M471I 1413G>A LAML-KR 4 88091589 88091589 single base substitution T A intron_variant LAML-KR 4 88106908 88106908 single base substitution C A intron_variant LAML-KR 4 88106908 88106908 single base substitution C A missense_variant C87F 260G>T LAML-KR 4 88120830 88120830 single base substitution T A intron_variant LGG-US 4 88091688 88091688 single base substitution C T 3_prime_UTR_variant LGG-US 4 88091688 88091688 single base substitution C T exon_variant LGG-US 4 88091688 88091688 single base substitution C T missense_variant V247M 739G>A LGG-US 4 88091688 88091688 single base substitution C T missense_variant V354M 1060G>A LGG-US 4 88091688 88091688 single base substitution C T missense_variant V430M 1288G>A LGG-US 4 88091688 88091688 single base substitution C T missense_variant V79M 235G>A LICA-FR 4 88080065 88080070 deletion of <=200bp AACAAC - downstream_gene_variant LICA-FR 4 88083752 88083752 single base substitution T C 3_prime_UTR_variant LICA-FR 4 88083752 88083752 single base substitution T C downstream_gene_variant LICA-FR 4 88084792 88084822 deletion of <=200bp CACCTGAAAAGACGGAGAAGAAAAAATGTTA - downstream_gene_variant LICA-FR 4 88084792 88084822 deletion of <=200bp CACCTGAAAAGACGGAGAAGAAAAAATGTTA - splice_acceptor_variant LICA-FR 4 88091321 88091321 single base substitution G A 3_prime_UTR_variant LICA-FR 4 88091321 88091321 single base substitution G A downstream_gene_variant LICA-FR 4 88091321 88091321 single base substitution G A exon_variant LICA-FR 4 88091321 88091321 single base substitution G A missense_variant H132Y 394C>T LICA-FR 4 88091321 88091321 single base substitution G A missense_variant H300Y 898C>T LICA-FR 4 88091321 88091321 single base substitution G A missense_variant H407Y 1219C>T LICA-FR 4 88091321 88091321 single base substitution G A missense_variant H483Y 1447C>T LICA-FR 4 88118413 88118413 insertion of <=200bp - GATTATGTTACATTATA intron_variant LICA-FR 4 88124869 88124869 single base substitution T C intron_variant LICA-FR 4 88148694 88148694 single base substitution T A intron_variant LIHC-US 4 88098001 88098001 single base substitution A G 3_prime_UTR_variant LIHC-US 4 88098001 88098001 single base substitution A G exon_variant LIHC-US 4 88098001 88098001 single base substitution A G intron_variant LIHC-US 4 88098001 88098001 single base substitution A G synonymous_variant G189G 567T>C LIHC-US 4 88098001 88098001 single base substitution A G synonymous_variant G21G 63T>C LIHC-US 4 88098001 88098001 single base substitution A G synonymous_variant G296G 888T>C LIHC-US 4 88098001 88098001 single base substitution A G synonymous_variant G372G 1116T>C LIHC-US 4 88106860 88106860 single base substitution G C intron_variant LIHC-US 4 88106860 88106860 single base substitution G C missense_variant A103G 308C>G LINC-JP 4 88084342 88084342 single base substitution C A 3_prime_UTR_variant LINC-JP 4 88084342 88084342 single base substitution C A downstream_gene_variant LINC-JP 4 88087723 88087723 single base substitution A G downstream_gene_variant LINC-JP 4 88087723 88087723 single base substitution A G intron_variant LINC-JP 4 88107846 88107846 single base substitution G T intron_variant LINC-JP 4 88109405 88109405 single base substitution A G intron_variant LINC-JP 4 88134410 88134410 single base substitution C T intron_variant LINC-JP 4 88137572 88137572 single base substitution G T downstream_gene_variant LINC-JP 4 88137572 88137572 single base substitution G T intron_variant LINC-JP 4 88137621 88137621 single base substitution G A downstream_gene_variant LINC-JP 4 88137621 88137621 single base substitution G A intron_variant LINC-JP 4 88144272 88144272 single base substitution T G intron_variant LINC-JP 4 88144272 88144272 single base substitution T G upstream_gene_variant LINC-JP 4 88163736 88163736 single base substitution G A upstream_gene_variant LIRI-JP 4 88077069 88077069 single base substitution T A downstream_gene_variant LIRI-JP 4 88078406 88078406 single base substitution A G downstream_gene_variant LIRI-JP 4 88079098 88079098 single base substitution A C downstream_gene_variant LIRI-JP 4 88081195 88081195 single base substitution A C downstream_gene_variant LIRI-JP 4 88083244 88083244 single base substitution T C 3_prime_UTR_variant LIRI-JP 4 88083244 88083244 single base substitution T C downstream_gene_variant LIRI-JP 4 88083823 88083823 single base substitution C T 3_prime_UTR_variant LIRI-JP 4 88083823 88083823 single base substitution C T downstream_gene_variant LIRI-JP 4 88090287 88090287 single base substitution T C downstream_gene_variant LIRI-JP 4 88090287 88090287 single base substitution T C intron_variant LIRI-JP 4 88092727 88092727 single base substitution G A intron_variant LIRI-JP 4 88094478 88094478 single base substitution C T intron_variant LIRI-JP 4 88095374 88095374 single base substitution T C intron_variant LIRI-JP 4 88096403 88096403 single base substitution T G intron_variant LIRI-JP 4 88101291 88101291 single base substitution A G intron_variant LIRI-JP 4 88103865 88103865 single base substitution T G intron_variant LIRI-JP 4 88110273 88110273 single base substitution G A intron_variant LIRI-JP 4 88111976 88111976 single base substitution T C intron_variant LIRI-JP 4 88112884 88112884 single base substitution C A intron_variant LIRI-JP 4 88113688 88113688 single base substitution C T intron_variant LIRI-JP 4 88115505 88115505 single base substitution C T intron_variant LIRI-JP 4 88116493 88116493 single base substitution A T 5_prime_UTR_variant LIRI-JP 4 88116493 88116493 single base substitution A T exon_variant LIRI-JP 4 88116493 88116493 single base substitution A T intron_variant LIRI-JP 4 88116493 88116493 single base substitution A T missense_variant C67S 199T>A LIRI-JP 4 88118400 88118400 single base substitution C A intron_variant LIRI-JP 4 88118402 88118402 single base substitution T A intron_variant LIRI-JP 4 88118404 88118404 single base substitution A C intron_variant LIRI-JP 4 88118871 88118871 single base substitution T C intron_variant LIRI-JP 4 88118888 88118888 single base substitution A C intron_variant LIRI-JP 4 88121403 88121403 single base substitution A G intron_variant LIRI-JP 4 88125552 88125552 single base substitution T G intron_variant LIRI-JP 4 88125584 88125584 single base substitution A T intron_variant LIRI-JP 4 88128116 88128116 single base substitution A G intron_variant LIRI-JP 4 88128176 88128176 single base substitution T A intron_variant LIRI-JP 4 88130301 88130301 single base substitution T C intron_variant LIRI-JP 4 88131048 88131048 single base substitution C A intron_variant LIRI-JP 4 88131154 88131154 single base substitution C T intron_variant LIRI-JP 4 88132539 88132539 single base substitution T G intron_variant LIRI-JP 4 88139956 88139956 single base substitution G C downstream_gene_variant LIRI-JP 4 88139956 88139956 single base substitution G C intron_variant LIRI-JP 4 88140220 88140220 single base substitution C T downstream_gene_variant LIRI-JP 4 88140220 88140220 single base substitution C T intron_variant LIRI-JP 4 88140694 88140697 deletion of <=200bp GAAC - exon_variant LIRI-JP 4 88140694 88140697 deletion of <=200bp GAAC - intron_variant LIRI-JP 4 88141999 88141999 single base substitution T C exon_variant LIRI-JP 4 88141999 88141999 single base substitution T C upstream_gene_variant LIRI-JP 4 88149163 88149163 single base substitution G A intron_variant LIRI-JP 4 88149373 88149373 single base substitution C T intron_variant LIRI-JP 4 88153002 88153002 single base substitution G A intron_variant LIRI-JP 4 88154671 88154671 single base substitution G A intron_variant LIRI-JP 4 88154778 88154778 single base substitution G A intron_variant LIRI-JP 4 88155990 88155990 single base substitution G A intron_variant LIRI-JP 4 88158217 88158217 single base substitution C A intron_variant LIRI-JP 4 88159929 88159929 single base substitution A G intron_variant LIRI-JP 4 88160127 88160127 single base substitution G A intron_variant LIRI-JP 4 88160312 88160312 single base substitution T C intron_variant LIRI-JP 4 88161301 88161301 single base substitution T C intron_variant LIRI-JP 4 88165199 88165199 single base substitution T C upstream_gene_variant LIRI-JP 4 88165434 88165434 single base substitution C T upstream_gene_variant LUSC-KR 4 88078522 88078522 single base substitution C G downstream_gene_variant LUSC-KR 4 88078620 88078620 single base substitution C A downstream_gene_variant LUSC-KR 4 88082968 88082968 single base substitution C G 3_prime_UTR_variant LUSC-KR 4 88082968 88082968 single base substitution C G downstream_gene_variant LUSC-KR 4 88083427 88083427 single base substitution T A 3_prime_UTR_variant LUSC-KR 4 88083427 88083427 single base substitution T A downstream_gene_variant LUSC-KR 4 88084492 88084492 single base substitution C G 3_prime_UTR_variant LUSC-KR 4 88084492 88084492 single base substitution C G downstream_gene_variant LUSC-KR 4 88088369 88088369 single base substitution C T downstream_gene_variant LUSC-KR 4 88088369 88088369 single base substitution C T intron_variant LUSC-KR 4 88106312 88106312 single base substitution G C intron_variant LUSC-KR 4 88106908 88106908 single base substitution C A intron_variant LUSC-KR 4 88106908 88106908 single base substitution C A missense_variant C87F 260G>T LUSC-KR 4 88119242 88119242 single base substitution G T intron_variant LUSC-KR 4 88125076 88125076 single base substitution T C intron_variant LUSC-KR 4 88126513 88126513 single base substitution C G intron_variant LUSC-KR 4 88140963 88140963 single base substitution C T exon_variant LUSC-KR 4 88140963 88140963 single base substitution C T intron_variant LUSC-KR 4 88141537 88141537 single base substitution G T exon_variant LUSC-KR 4 88141537 88141537 single base substitution G T intron_variant LUSC-KR 4 88141537 88141537 single base substitution G T upstream_gene_variant LUSC-KR 4 88143240 88143240 single base substitution G T intron_variant LUSC-KR 4 88143240 88143240 single base substitution G T upstream_gene_variant LUSC-KR 4 88145753 88145753 single base substitution G T intron_variant LUSC-KR 4 88145753 88145753 single base substitution G T upstream_gene_variant LUSC-KR 4 88146749 88146749 single base substitution G A intron_variant LUSC-KR 4 88146749 88146749 single base substitution G A upstream_gene_variant LUSC-KR 4 88148729 88148729 single base substitution T C intron_variant LUSC-KR 4 88148888 88148888 single base substitution T A intron_variant LUSC-KR 4 88154856 88154856 single base substitution T A intron_variant LUSC-KR 4 88159209 88159209 single base substitution T A intron_variant LUSC-KR 4 88159745 88159745 single base substitution G A intron_variant LUSC-KR 4 88164166 88164166 single base substitution G C upstream_gene_variant LUSC-US 4 88106539 88106539 single base substitution G T intron_variant LUSC-US 4 88106539 88106539 single base substitution G T missense_variant P134Q 401C>A LUSC-US 4 88106539 88106539 single base substitution G T missense_variant P210Q 629C>A LUSC-US 4 88116479 88116479 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant LUSC-US 4 88116479 88116479 single base substitution G C exon_variant LUSC-US 4 88116479 88116479 single base substitution G C intron_variant LUSC-US 4 88116479 88116479 single base substitution G C synonymous_variant L71L 213C>G MALY-DE 4 88076668 88076668 single base substitution G A downstream_gene_variant MALY-DE 4 88085713 88085713 single base substitution G A intron_variant MALY-DE 4 88087847 88087847 single base substitution G A downstream_gene_variant MALY-DE 4 88087847 88087847 single base substitution G A intron_variant MALY-DE 4 88089850 88089850 single base substitution G A downstream_gene_variant MALY-DE 4 88089850 88089850 single base substitution G A intron_variant MALY-DE 4 88102010 88102010 single base substitution T G intron_variant MALY-DE 4 88102705 88102705 single base substitution A C intron_variant MALY-DE 4 88112614 88112614 single base substitution A C intron_variant MALY-DE 4 88112628 88112628 single base substitution A G intron_variant MALY-DE 4 88114558 88114558 single base substitution T A intron_variant MALY-DE 4 88117275 88117275 single base substitution A C intron_variant MALY-DE 4 88120246 88120246 deletion of <=200bp A - intron_variant MALY-DE 4 88130861 88130861 single base substitution T G intron_variant MALY-DE 4 88133825 88133825 single base substitution A G intron_variant MALY-DE 4 88137136 88137136 single base substitution C T downstream_gene_variant MALY-DE 4 88137136 88137136 single base substitution C T intron_variant MALY-DE 4 88139726 88139726 single base substitution A C downstream_gene_variant MALY-DE 4 88139726 88139726 single base substitution A C intron_variant MALY-DE 4 88145858 88145858 single base substitution C T intron_variant MALY-DE 4 88145858 88145858 single base substitution C T upstream_gene_variant MALY-DE 4 88147670 88147670 single base substitution C T intron_variant MALY-DE 4 88152031 88152031 single base substitution G A intron_variant MALY-DE 4 88153149 88153149 single base substitution T C intron_variant MALY-DE 4 88160876 88160876 single base substitution T C intron_variant MELA-AU 4 88077322 88077322 single base substitution A G downstream_gene_variant MELA-AU 4 88077377 88077377 single base substitution G A downstream_gene_variant MELA-AU 4 88078113 88078113 single base substitution G A downstream_gene_variant MELA-AU 4 88078230 88078230 single base substitution C G downstream_gene_variant MELA-AU 4 88078332 88078332 single base substitution G A downstream_gene_variant MELA-AU 4 88078334 88078334 single base substitution A T downstream_gene_variant MELA-AU 4 88078892 88078892 single base substitution C T downstream_gene_variant MELA-AU 4 88079326 88079326 single base substitution A G downstream_gene_variant MELA-AU 4 88079686 88079686 single base substitution G A downstream_gene_variant MELA-AU 4 88079840 88079840 single base substitution C T downstream_gene_variant MELA-AU 4 88080410 88080410 single base substitution G A downstream_gene_variant MELA-AU 4 88080412 88080412 single base substitution T A downstream_gene_variant MELA-AU 4 88080641 88080641 single base substitution C T downstream_gene_variant MELA-AU 4 88081642 88081642 single base substitution C T 3_prime_UTR_variant MELA-AU 4 88081642 88081642 single base substitution C T downstream_gene_variant MELA-AU 4 88081651 88081651 single base substitution C T 3_prime_UTR_variant MELA-AU 4 88081651 88081651 single base substitution C T downstream_gene_variant MELA-AU 4 88082394 88082395 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 4 88082394 88082395 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 88082807 88082807 single base substitution A G 3_prime_UTR_variant MELA-AU 4 88082807 88082807 single base substitution A G downstream_gene_variant MELA-AU 4 88084424 88084424 single base substitution G A 3_prime_UTR_variant MELA-AU 4 88084424 88084424 single base substitution G A downstream_gene_variant MELA-AU 4 88084806 88084806 single base substitution G A downstream_gene_variant MELA-AU 4 88084806 88084806 single base substitution G A intron_variant MELA-AU 4 88085327 88085327 single base substitution T A intron_variant MELA-AU 4 88085431 88085431 single base substitution G A intron_variant MELA-AU 4 88087453 88087453 single base substitution G A downstream_gene_variant MELA-AU 4 88087453 88087453 single base substitution G A intron_variant MELA-AU 4 88087800 88087800 single base substitution G A downstream_gene_variant MELA-AU 4 88087800 88087800 single base substitution G A intron_variant MELA-AU 4 88088543 88088543 single base substitution G A downstream_gene_variant MELA-AU 4 88088543 88088543 single base substitution G A intron_variant MELA-AU 4 88088630 88088630 single base substitution G A downstream_gene_variant MELA-AU 4 88088630 88088630 single base substitution G A intron_variant MELA-AU 4 88088978 88088978 single base substitution T A downstream_gene_variant MELA-AU 4 88088978 88088978 single base substitution T A intron_variant MELA-AU 4 88089410 88089410 single base substitution G A downstream_gene_variant MELA-AU 4 88089410 88089410 single base substitution G A intron_variant MELA-AU 4 88089425 88089425 single base substitution C T downstream_gene_variant MELA-AU 4 88089425 88089425 single base substitution C T intron_variant MELA-AU 4 88090008 88090008 single base substitution G A downstream_gene_variant MELA-AU 4 88090008 88090008 single base substitution G A intron_variant MELA-AU 4 88090433 88090433 single base substitution G A downstream_gene_variant MELA-AU 4 88090433 88090433 single base substitution G A intron_variant MELA-AU 4 88091074 88091074 single base substitution C T downstream_gene_variant MELA-AU 4 88091074 88091074 single base substitution C T intron_variant MELA-AU 4 88091715 88091715 single base substitution A G 3_prime_UTR_variant MELA-AU 4 88091715 88091715 single base substitution A G exon_variant MELA-AU 4 88091715 88091715 single base substitution A G synonymous_variant L238L 712T>C MELA-AU 4 88091715 88091715 single base substitution A G synonymous_variant L345L 1033T>C MELA-AU 4 88091715 88091715 single base substitution A G synonymous_variant L421L 1261T>C MELA-AU 4 88091715 88091715 single base substitution A G synonymous_variant L70L 208T>C MELA-AU 4 88091899 88091899 single base substitution T C intron_variant MELA-AU 4 88092039 88092039 single base substitution A G intron_variant MELA-AU 4 88092825 88092825 single base substitution G A intron_variant MELA-AU 4 88093920 88093920 single base substitution G A intron_variant MELA-AU 4 88094942 88094942 single base substitution G A intron_variant MELA-AU 4 88095086 88095086 single base substitution G A intron_variant MELA-AU 4 88095436 88095436 single base substitution T G intron_variant MELA-AU 4 88095641 88095641 single base substitution G A intron_variant MELA-AU 4 88096727 88096727 single base substitution G A intron_variant MELA-AU 4 88097078 88097078 single base substitution G A intron_variant MELA-AU 4 88097183 88097183 single base substitution A G intron_variant MELA-AU 4 88097557 88097557 single base substitution G A intron_variant MELA-AU 4 88098690 88098690 insertion of <=200bp - TA intron_variant MELA-AU 4 88099115 88099115 single base substitution A G intron_variant MELA-AU 4 88099212 88099212 single base substitution G A intron_variant MELA-AU 4 88099807 88099807 single base substitution A G intron_variant MELA-AU 4 88100035 88100035 single base substitution C T intron_variant MELA-AU 4 88100719 88100719 single base substitution G C intron_variant MELA-AU 4 88102164 88102164 single base substitution G A intron_variant MELA-AU 4 88102398 88102398 single base substitution G A intron_variant MELA-AU 4 88102776 88102776 single base substitution G A intron_variant MELA-AU 4 88103032 88103032 single base substitution C T intron_variant MELA-AU 4 88103242 88103242 single base substitution A C intron_variant MELA-AU 4 88103261 88103261 single base substitution G A intron_variant MELA-AU 4 88103770 88103770 single base substitution G A intron_variant MELA-AU 4 88104187 88104187 single base substitution A C intron_variant MELA-AU 4 88105199 88105199 single base substitution T A intron_variant MELA-AU 4 88105284 88105284 single base substitution G A intron_variant MELA-AU 4 88105309 88105309 single base substitution A T intron_variant MELA-AU 4 88105767 88105767 single base substitution G A intron_variant MELA-AU 4 88106340 88106340 single base substitution G A intron_variant MELA-AU 4 88106627 88106627 single base substitution G A intron_variant MELA-AU 4 88106627 88106627 single base substitution G A stop_gained R105* 313C>T MELA-AU 4 88106627 88106627 single base substitution G A stop_gained R181* 541C>T MELA-AU 4 88107681 88107681 single base substitution G A intron_variant MELA-AU 4 88108607 88108607 single base substitution T C intron_variant MELA-AU 4 88110297 88110297 single base substitution G A intron_variant MELA-AU 4 88112224 88112224 single base substitution G A intron_variant MELA-AU 4 88112316 88112316 single base substitution G A intron_variant MELA-AU 4 88113616 88113616 single base substitution T C intron_variant MELA-AU 4 88113884 88113884 single base substitution G A intron_variant MELA-AU 4 88114123 88114123 single base substitution C T intron_variant MELA-AU 4 88114597 88114597 single base substitution G A intron_variant MELA-AU 4 88115113 88115113 single base substitution A T intron_variant MELA-AU 4 88115244 88115244 single base substitution G A intron_variant MELA-AU 4 88115328 88115328 single base substitution G A intron_variant MELA-AU 4 88116641 88116641 single base substitution C T 5_prime_UTR_variant MELA-AU 4 88116641 88116641 single base substitution C T exon_variant MELA-AU 4 88116641 88116641 single base substitution C T intron_variant MELA-AU 4 88116641 88116641 single base substitution C T synonymous_variant K17K 51G>A MELA-AU 4 88116897 88116897 single base substitution T C intron_variant MELA-AU 4 88117892 88117892 single base substitution T A intron_variant MELA-AU 4 88119396 88119396 single base substitution C T intron_variant MELA-AU 4 88119711 88119711 single base substitution G A intron_variant MELA-AU 4 88120442 88120442 single base substitution A T intron_variant MELA-AU 4 88120914 88120914 single base substitution G A intron_variant MELA-AU 4 88122387 88122387 single base substitution G A intron_variant MELA-AU 4 88123751 88123751 single base substitution C G intron_variant MELA-AU 4 88124013 88124013 single base substitution G A intron_variant MELA-AU 4 88124380 88124380 single base substitution G A intron_variant MELA-AU 4 88124479 88124479 single base substitution G A intron_variant MELA-AU 4 88124577 88124577 single base substitution G A intron_variant MELA-AU 4 88124995 88124995 single base substitution A G intron_variant MELA-AU 4 88125296 88125296 single base substitution G A intron_variant MELA-AU 4 88125983 88125984 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 88126825 88126825 single base substitution A G intron_variant MELA-AU 4 88128059 88128059 single base substitution C T intron_variant MELA-AU 4 88128061 88128061 single base substitution T A intron_variant MELA-AU 4 88128143 88128143 single base substitution C T intron_variant MELA-AU 4 88129734 88129735 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 88130022 88130022 single base substitution G A intron_variant MELA-AU 4 88131099 88131099 single base substitution G A intron_variant MELA-AU 4 88132936 88132936 single base substitution G A intron_variant MELA-AU 4 88133968 88133968 single base substitution G A intron_variant MELA-AU 4 88135296 88135296 single base substitution A G intron_variant MELA-AU 4 88135354 88135354 single base substitution C T intron_variant MELA-AU 4 88135567 88135567 single base substitution G T intron_variant MELA-AU 4 88135655 88135655 single base substitution C T intron_variant MELA-AU 4 88135831 88135831 single base substitution A T downstream_gene_variant MELA-AU 4 88135831 88135831 single base substitution A T intron_variant MELA-AU 4 88135916 88135916 single base substitution A G downstream_gene_variant MELA-AU 4 88135916 88135916 single base substitution A G intron_variant MELA-AU 4 88135930 88135930 single base substitution G A downstream_gene_variant MELA-AU 4 88135930 88135930 single base substitution G A intron_variant MELA-AU 4 88135971 88135971 single base substitution G A downstream_gene_variant MELA-AU 4 88135971 88135971 single base substitution G A intron_variant MELA-AU 4 88136143 88136143 single base substitution G A downstream_gene_variant MELA-AU 4 88136143 88136143 single base substitution G A intron_variant MELA-AU 4 88136630 88136630 single base substitution A G downstream_gene_variant MELA-AU 4 88136630 88136630 single base substitution A G intron_variant MELA-AU 4 88136645 88136645 single base substitution G A downstream_gene_variant MELA-AU 4 88136645 88136645 single base substitution G A intron_variant MELA-AU 4 88137443 88137443 single base substitution A G downstream_gene_variant MELA-AU 4 88137443 88137443 single base substitution A G intron_variant MELA-AU 4 88138204 88138204 single base substitution C T downstream_gene_variant MELA-AU 4 88138204 88138204 single base substitution C T intron_variant MELA-AU 4 88138458 88138458 single base substitution G A downstream_gene_variant MELA-AU 4 88138458 88138458 single base substitution G A intron_variant MELA-AU 4 88139372 88139372 single base substitution G A downstream_gene_variant MELA-AU 4 88139372 88139372 single base substitution G A intron_variant MELA-AU 4 88139415 88139415 single base substitution G A downstream_gene_variant MELA-AU 4 88139415 88139415 single base substitution G A intron_variant MELA-AU 4 88139638 88139638 single base substitution G A downstream_gene_variant MELA-AU 4 88139638 88139638 single base substitution G A intron_variant MELA-AU 4 88141782 88141783 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 4 88141782 88141783 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 4 88142411 88142411 single base substitution G C exon_variant MELA-AU 4 88142411 88142411 single base substitution G C upstream_gene_variant MELA-AU 4 88142841 88142842 multiple base substitution (>=2bp and <=200bp) TC AA intron_variant MELA-AU 4 88142841 88142842 multiple base substitution (>=2bp and <=200bp) TC AA upstream_gene_variant MELA-AU 4 88143729 88143729 single base substitution T G intron_variant MELA-AU 4 88143729 88143729 single base substitution T G upstream_gene_variant MELA-AU 4 88143828 88143828 single base substitution C G intron_variant MELA-AU 4 88143828 88143828 single base substitution C G upstream_gene_variant MELA-AU 4 88144042 88144042 single base substitution A G intron_variant MELA-AU 4 88144042 88144042 single base substitution A G upstream_gene_variant MELA-AU 4 88144274 88144274 single base substitution T C intron_variant MELA-AU 4 88144274 88144274 single base substitution T C upstream_gene_variant MELA-AU 4 88144395 88144395 single base substitution G A intron_variant MELA-AU 4 88144395 88144395 single base substitution G A upstream_gene_variant MELA-AU 4 88144396 88144396 single base substitution G A intron_variant MELA-AU 4 88144396 88144396 single base substitution G A upstream_gene_variant MELA-AU 4 88144751 88144751 single base substitution G A intron_variant MELA-AU 4 88144751 88144751 single base substitution G A upstream_gene_variant MELA-AU 4 88145503 88145503 single base substitution G A intron_variant MELA-AU 4 88145503 88145503 single base substitution G A upstream_gene_variant MELA-AU 4 88145552 88145552 single base substitution G A intron_variant MELA-AU 4 88145552 88145552 single base substitution G A upstream_gene_variant MELA-AU 4 88145692 88145692 single base substitution G T intron_variant MELA-AU 4 88145692 88145692 single base substitution G T upstream_gene_variant MELA-AU 4 88145951 88145951 single base substitution A T intron_variant MELA-AU 4 88145951 88145951 single base substitution A T upstream_gene_variant MELA-AU 4 88146088 88146088 single base substitution G A intron_variant MELA-AU 4 88146088 88146088 single base substitution G A upstream_gene_variant MELA-AU 4 88146298 88146298 single base substitution C T intron_variant MELA-AU 4 88146298 88146298 single base substitution C T upstream_gene_variant MELA-AU 4 88146498 88146498 single base substitution C T intron_variant MELA-AU 4 88146498 88146498 single base substitution C T upstream_gene_variant MELA-AU 4 88146628 88146628 single base substitution C T intron_variant MELA-AU 4 88146628 88146628 single base substitution C T upstream_gene_variant MELA-AU 4 88146944 88146944 single base substitution T C intron_variant MELA-AU 4 88146959 88146959 single base substitution G A intron_variant MELA-AU 4 88147310 88147310 single base substitution C T intron_variant MELA-AU 4 88147462 88147462 single base substitution C T intron_variant MELA-AU 4 88147524 88147524 single base substitution A G intron_variant MELA-AU 4 88148065 88148065 single base substitution A G intron_variant MELA-AU 4 88148139 88148139 single base substitution A T intron_variant MELA-AU 4 88148589 88148589 single base substitution C A intron_variant MELA-AU 4 88148718 88148718 single base substitution C T intron_variant MELA-AU 4 88148775 88148775 single base substitution G A intron_variant MELA-AU 4 88148854 88148854 single base substitution G A intron_variant MELA-AU 4 88149285 88149285 single base substitution G A intron_variant MELA-AU 4 88149573 88149573 single base substitution G A intron_variant MELA-AU 4 88149898 88149898 single base substitution C T intron_variant MELA-AU 4 88150588 88150588 single base substitution G T intron_variant MELA-AU 4 88150803 88150803 single base substitution C T intron_variant MELA-AU 4 88151088 88151088 single base substitution C T intron_variant MELA-AU 4 88151425 88151425 single base substitution C T intron_variant MELA-AU 4 88151436 88151436 single base substitution C T intron_variant MELA-AU 4 88151490 88151490 single base substitution G A intron_variant MELA-AU 4 88151551 88151551 single base substitution G A intron_variant MELA-AU 4 88152170 88152170 single base substitution C T intron_variant MELA-AU 4 88152756 88152756 single base substitution T A intron_variant MELA-AU 4 88152852 88152852 single base substitution G A intron_variant MELA-AU 4 88153269 88153269 single base substitution G C intron_variant MELA-AU 4 88153799 88153799 single base substitution G A intron_variant MELA-AU 4 88153812 88153812 single base substitution C T intron_variant MELA-AU 4 88156059 88156059 single base substitution C T intron_variant MELA-AU 4 88156655 88156655 single base substitution T A intron_variant MELA-AU 4 88156765 88156765 single base substitution G A intron_variant MELA-AU 4 88158170 88158170 single base substitution G A intron_variant MELA-AU 4 88158463 88158463 single base substitution G A intron_variant MELA-AU 4 88159321 88159321 single base substitution C T intron_variant MELA-AU 4 88159356 88159356 single base substitution G A intron_variant MELA-AU 4 88159546 88159546 single base substitution G A intron_variant MELA-AU 4 88159897 88159897 single base substitution G A intron_variant MELA-AU 4 88159933 88159933 single base substitution G A intron_variant MELA-AU 4 88160473 88160473 single base substitution G A intron_variant MELA-AU 4 88160678 88160678 single base substitution T C intron_variant MELA-AU 4 88160710 88160710 single base substitution G A intron_variant MELA-AU 4 88160764 88160764 single base substitution C T intron_variant MELA-AU 4 88161240 88161240 single base substitution T C intron_variant MELA-AU 4 88161376 88161376 single base substitution C T intron_variant MELA-AU 4 88161449 88161449 single base substitution C T exon_variant MELA-AU 4 88161540 88161540 single base substitution C T upstream_gene_variant MELA-AU 4 88161735 88161735 single base substitution C T upstream_gene_variant MELA-AU 4 88161869 88161869 single base substitution C T upstream_gene_variant MELA-AU 4 88162375 88162375 single base substitution G A upstream_gene_variant MELA-AU 4 88162576 88162577 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 4 88162586 88162586 single base substitution G A upstream_gene_variant MELA-AU 4 88162614 88162614 single base substitution C T upstream_gene_variant MELA-AU 4 88162736 88162736 single base substitution A G upstream_gene_variant MELA-AU 4 88162791 88162791 single base substitution T C upstream_gene_variant MELA-AU 4 88163300 88163300 single base substitution T C upstream_gene_variant MELA-AU 4 88163353 88163353 single base substitution G A upstream_gene_variant MELA-AU 4 88163535 88163535 single base substitution G A upstream_gene_variant MELA-AU 4 88163652 88163652 single base substitution G A upstream_gene_variant MELA-AU 4 88163752 88163752 single base substitution G A upstream_gene_variant MELA-AU 4 88164018 88164018 single base substitution G A upstream_gene_variant MELA-AU 4 88164171 88164171 single base substitution G A upstream_gene_variant MELA-AU 4 88164312 88164312 single base substitution T G upstream_gene_variant MELA-AU 4 88164421 88164421 single base substitution C T upstream_gene_variant MELA-AU 4 88164628 88164628 single base substitution G A upstream_gene_variant MELA-AU 4 88165168 88165168 single base substitution G A upstream_gene_variant MELA-AU 4 88165254 88165255 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 4 88165320 88165320 single base substitution C T upstream_gene_variant MELA-AU 4 88165388 88165388 single base substitution G A upstream_gene_variant MELA-AU 4 88165467 88165467 single base substitution C T upstream_gene_variant MELA-AU 4 88165501 88165501 single base substitution G A upstream_gene_variant MELA-AU 4 88165624 88165624 single base substitution G A upstream_gene_variant MELA-AU 4 88165637 88165637 single base substitution T C upstream_gene_variant MELA-AU 4 88165736 88165736 single base substitution G A upstream_gene_variant MELA-AU 4 88166028 88166028 single base substitution C T upstream_gene_variant MELA-AU 4 88166092 88166092 single base substitution G A upstream_gene_variant MELA-AU 4 88166350 88166350 single base substitution G A upstream_gene_variant ORCA-IN 4 88077322 88077323 deletion of <=200bp AG - downstream_gene_variant ORCA-IN 4 88082427 88082427 single base substitution C T 3_prime_UTR_variant ORCA-IN 4 88082427 88082427 single base substitution C T downstream_gene_variant ORCA-IN 4 88085223 88085223 single base substitution C A 3_prime_UTR_variant ORCA-IN 4 88085223 88085223 single base substitution C A exon_variant ORCA-IN 4 88085223 88085223 single base substitution C A missense_variant D165Y 493G>T ORCA-IN 4 88085223 88085223 single base substitution C A missense_variant D333Y 997G>T ORCA-IN 4 88085223 88085223 single base substitution C A missense_variant D440Y 1318G>T ORCA-IN 4 88085223 88085223 single base substitution C A missense_variant D516Y 1546G>T ORCA-IN 4 88091795 88091795 single base substitution C A intron_variant ORCA-IN 4 88105805 88105805 single base substitution G T intron_variant ORCA-IN 4 88106542 88106542 single base substitution G A intron_variant ORCA-IN 4 88106542 88106542 single base substitution G A missense_variant S133L 398C>T ORCA-IN 4 88106542 88106542 single base substitution G A missense_variant S209L 626C>T ORCA-IN 4 88126622 88126622 single base substitution A G intron_variant ORCA-IN 4 88143528 88143528 single base substitution G A intron_variant ORCA-IN 4 88143528 88143528 single base substitution G A upstream_gene_variant OV-AU 4 88082528 88082528 single base substitution C G 3_prime_UTR_variant OV-AU 4 88082528 88082528 single base substitution C G downstream_gene_variant OV-AU 4 88082707 88082707 single base substitution A T 3_prime_UTR_variant OV-AU 4 88082707 88082707 single base substitution A T downstream_gene_variant OV-AU 4 88088098 88088098 single base substitution G A downstream_gene_variant OV-AU 4 88088098 88088098 single base substitution G A intron_variant OV-AU 4 88096425 88096425 single base substitution G A intron_variant OV-AU 4 88098351 88098351 single base substitution C G intron_variant OV-AU 4 88115998 88115998 single base substitution T A intron_variant OV-AU 4 88118007 88118007 single base substitution A T intron_variant OV-AU 4 88136231 88136231 single base substitution G A downstream_gene_variant OV-AU 4 88136231 88136231 single base substitution G A intron_variant OV-AU 4 88141126 88141126 single base substitution G A exon_variant OV-AU 4 88141126 88141126 single base substitution G A intron_variant OV-AU 4 88147871 88147871 single base substitution T A intron_variant OV-AU 4 88147917 88147917 single base substitution A G intron_variant OV-AU 4 88147947 88147947 single base substitution A T intron_variant OV-AU 4 88155870 88155870 single base substitution C A intron_variant OV-AU 4 88156072 88156072 single base substitution C G intron_variant OV-AU 4 88159985 88159985 single base substitution G C intron_variant OV-AU 4 88164543 88164543 single base substitution C T upstream_gene_variant PACA-AU 4 88078282 88078282 single base substitution C A downstream_gene_variant PACA-AU 4 88079631 88079631 single base substitution T A downstream_gene_variant PACA-AU 4 88084361 88084361 insertion of <=200bp - AG 3_prime_UTR_variant PACA-AU 4 88084361 88084361 insertion of <=200bp - AG downstream_gene_variant PACA-AU 4 88085294 88085294 single base substitution A G intron_variant PACA-AU 4 88086194 88086194 single base substitution G A intron_variant PACA-AU 4 88088334 88088334 single base substitution T C downstream_gene_variant PACA-AU 4 88088334 88088334 single base substitution T C intron_variant PACA-AU 4 88107197 88107197 single base substitution A T intron_variant PACA-AU 4 88113066 88113066 single base substitution C T intron_variant PACA-AU 4 88115468 88115468 single base substitution C G intron_variant PACA-AU 4 88133087 88133087 single base substitution G A intron_variant PACA-AU 4 88135687 88135687 deletion of <=200bp T - downstream_gene_variant PACA-AU 4 88135687 88135687 deletion of <=200bp T - intron_variant PACA-AU 4 88137491 88137491 single base substitution C T downstream_gene_variant PACA-AU 4 88137491 88137491 single base substitution C T intron_variant PACA-AU 4 88141786 88141786 single base substitution T G exon_variant PACA-AU 4 88141786 88141786 single base substitution T G upstream_gene_variant PACA-AU 4 88143736 88143736 deletion of <=200bp T - intron_variant PACA-AU 4 88143736 88143736 deletion of <=200bp T - upstream_gene_variant PACA-AU 4 88145001 88145001 single base substitution A G intron_variant PACA-AU 4 88145001 88145001 single base substitution A G upstream_gene_variant PACA-AU 4 88150796 88150796 single base substitution C T intron_variant PACA-AU 4 88162750 88162750 single base substitution A G upstream_gene_variant PACA-AU 4 88165797 88165797 single base substitution T A upstream_gene_variant PACA-CA 4 88084618 88084618 single base substitution T G 3_prime_UTR_variant PACA-CA 4 88084618 88084618 single base substitution T G downstream_gene_variant PACA-CA 4 88086400 88086400 single base substitution A G downstream_gene_variant PACA-CA 4 88086400 88086400 single base substitution A G intron_variant PACA-CA 4 88092436 88092436 single base substitution A G intron_variant PACA-CA 4 88101010 88101010 single base substitution T A intron_variant PACA-CA 4 88101011 88101011 single base substitution A T intron_variant PACA-CA 4 88102437 88102437 single base substitution A G intron_variant PACA-CA 4 88103081 88103081 deletion of <=200bp A - intron_variant PACA-CA 4 88106788 88106788 single base substitution G C intron_variant PACA-CA 4 88106788 88106788 single base substitution G C missense_variant S127C 380C>G PACA-CA 4 88118366 88118371 deletion of <=200bp GACGGA - intron_variant PACA-CA 4 88118374 88118378 deletion of <=200bp GTGGG - intron_variant PACA-CA 4 88118380 88118402 deletion of <=200bp AAGTGATGAGATGCCACTCTCTT - intron_variant PACA-CA 4 88118888 88118888 single base substitution A C intron_variant PACA-CA 4 88119040 88119040 single base substitution A C intron_variant PACA-CA 4 88121304 88121304 single base substitution A G intron_variant PACA-CA 4 88121416 88121433 deletion of <=200bp CAGGATCCCTGCAGATAC - intron_variant PACA-CA 4 88124639 88124639 single base substitution C G intron_variant PACA-CA 4 88125042 88125042 single base substitution C T intron_variant PACA-CA 4 88125672 88125672 single base substitution A T intron_variant PACA-CA 4 88133750 88133750 single base substitution T A intron_variant PACA-CA 4 88135733 88135733 single base substitution T C downstream_gene_variant PACA-CA 4 88135733 88135733 single base substitution T C intron_variant PACA-CA 4 88136285 88136285 single base substitution T C downstream_gene_variant PACA-CA 4 88136285 88136285 single base substitution T C intron_variant PACA-CA 4 88137133 88137133 single base substitution A G downstream_gene_variant PACA-CA 4 88137133 88137133 single base substitution A G intron_variant PACA-CA 4 88138099 88138099 single base substitution T G downstream_gene_variant PACA-CA 4 88138099 88138099 single base substitution T G intron_variant PACA-CA 4 88140920 88140920 single base substitution C T exon_variant PACA-CA 4 88140920 88140920 single base substitution C T intron_variant PACA-CA 4 88141462 88141462 deletion of <=200bp T - exon_variant PACA-CA 4 88141462 88141462 deletion of <=200bp T - intron_variant PACA-CA 4 88141462 88141462 deletion of <=200bp T - upstream_gene_variant PACA-CA 4 88143143 88143143 single base substitution G A intron_variant PACA-CA 4 88143143 88143143 single base substitution G A upstream_gene_variant PACA-CA 4 88143989 88143989 single base substitution G A intron_variant PACA-CA 4 88143989 88143989 single base substitution G A upstream_gene_variant PACA-CA 4 88147735 88147735 single base substitution C A intron_variant PACA-CA 4 88152899 88152899 single base substitution C A intron_variant PACA-CA 4 88154586 88154586 single base substitution C T intron_variant PACA-CA 4 88156011 88156011 single base substitution G A intron_variant PACA-CA 4 88158600 88158600 single base substitution A T intron_variant PACA-CA 4 88159122 88159122 single base substitution G T intron_variant PACA-CA 4 88161523 88161523 single base substitution C G upstream_gene_variant PACA-CA 4 88164669 88164669 single base substitution A C upstream_gene_variant PACA-CA 4 88166022 88166022 single base substitution C A upstream_gene_variant PAEN-AU 4 88112330 88112330 single base substitution A T intron_variant PAEN-AU 4 88129518 88129518 single base substitution T C intron_variant PAEN-AU 4 88136903 88136903 single base substitution A G downstream_gene_variant PAEN-AU 4 88136903 88136903 single base substitution A G intron_variant PAEN-AU 4 88142336 88142336 single base substitution T G exon_variant PAEN-AU 4 88142336 88142336 single base substitution T G upstream_gene_variant PAEN-AU 4 88161220 88161220 single base substitution A G intron_variant PAEN-IT 4 88083790 88083790 single base substitution C T 3_prime_UTR_variant PAEN-IT 4 88083790 88083790 single base substitution C T downstream_gene_variant PAEN-IT 4 88141493 88141493 single base substitution G A exon_variant PAEN-IT 4 88141493 88141493 single base substitution G A intron_variant PAEN-IT 4 88141493 88141493 single base substitution G A upstream_gene_variant PBCA-DE 4 88078385 88078385 single base substitution A C downstream_gene_variant PBCA-DE 4 88080065 88080067 deletion of <=200bp AAC - downstream_gene_variant PBCA-DE 4 88088893 88088893 single base substitution G A downstream_gene_variant PBCA-DE 4 88088893 88088893 single base substitution G A intron_variant PBCA-DE 4 88095026 88095026 single base substitution A T intron_variant PBCA-DE 4 88097234 88097234 single base substitution G A intron_variant PBCA-DE 4 88099711 88099711 single base substitution G A 3_prime_UTR_variant PBCA-DE 4 88099711 88099711 single base substitution G A 5_prime_UTR_variant PBCA-DE 4 88099711 88099711 single base substitution G A exon_variant PBCA-DE 4 88099711 88099711 single base substitution G A intron_variant PBCA-DE 4 88099711 88099711 single base substitution G A synonymous_variant C155C 465C>T PBCA-DE 4 88099711 88099711 single base substitution G A synonymous_variant C262C 786C>T PBCA-DE 4 88099711 88099711 single base substitution G A synonymous_variant C338C 1014C>T PBCA-DE 4 88106247 88106247 single base substitution C T intron_variant PBCA-DE 4 88109174 88109174 single base substitution A T intron_variant PBCA-DE 4 88109517 88109517 single base substitution C G intron_variant PBCA-DE 4 88110832 88110832 insertion of <=200bp - A intron_variant PBCA-DE 4 88126565 88126565 insertion of <=200bp - AC intron_variant PBCA-DE 4 88141685 88141685 single base substitution G C 5_prime_UTR_variant PBCA-DE 4 88141685 88141685 single base substitution G C exon_variant PBCA-DE 4 88141685 88141685 single base substitution G C upstream_gene_variant PBCA-DE 4 88147735 88147735 single base substitution C A intron_variant PBCA-DE 4 88150469 88150469 single base substitution C T intron_variant PBCA-DE 4 88159157 88159157 single base substitution A G intron_variant PRAD-CA 4 88091625 88091625 single base substitution C T 3_prime_UTR_variant PRAD-CA 4 88091625 88091625 single base substitution C T exon_variant PRAD-CA 4 88091625 88091625 single base substitution C T missense_variant G100R 298G>A PRAD-CA 4 88091625 88091625 single base substitution C T missense_variant G268R 802G>A PRAD-CA 4 88091625 88091625 single base substitution C T missense_variant G375R 1123G>A PRAD-CA 4 88091625 88091625 single base substitution C T missense_variant G451R 1351G>A PRAD-CA 4 88120817 88120817 single base substitution C A intron_variant PRAD-CA 4 88147735 88147735 single base substitution C A intron_variant PRAD-CA 4 88148708 88148708 single base substitution G T intron_variant PRAD-CA 4 88166296 88166296 single base substitution C T upstream_gene_variant PRAD-UK 4 88082224 88082224 single base substitution T G 3_prime_UTR_variant PRAD-UK 4 88082224 88082224 single base substitution T G downstream_gene_variant PRAD-UK 4 88097290 88097290 single base substitution G A intron_variant PRAD-UK 4 88107731 88107731 single base substitution G A intron_variant PRAD-UK 4 88126197 88126197 single base substitution A G intron_variant PRAD-UK 4 88147918 88147918 insertion of <=200bp - TAATATATATTATATATATAATATATATTATATG intron_variant PRAD-UK 4 88157549 88157549 single base substitution C T intron_variant PRAD-UK 4 88162740 88162740 single base substitution C T upstream_gene_variant PRAD-US 4 88116634 88116634 deletion of <=200bp T - 5_prime_UTR_variant PRAD-US 4 88116634 88116634 deletion of <=200bp T - exon_variant PRAD-US 4 88116634 88116634 deletion of <=200bp T - frameshift_variant R20 PRAD-US 4 88116634 88116634 deletion of <=200bp T - intron_variant READ-US 4 88099725 88099725 single base substitution G A 3_prime_UTR_variant READ-US 4 88099725 88099725 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant READ-US 4 88099725 88099725 single base substitution G A exon_variant READ-US 4 88099725 88099725 single base substitution G A intron_variant READ-US 4 88099725 88099725 single base substitution G A missense_variant R151C 451C>T READ-US 4 88099725 88099725 single base substitution G A missense_variant R258C 772C>T READ-US 4 88099725 88099725 single base substitution G A missense_variant R334C 1000C>T READ-US 4 88106626 88106626 single base substitution C T intron_variant READ-US 4 88106626 88106626 single base substitution C T missense_variant R105Q 314G>A READ-US 4 88106626 88106626 single base substitution C T missense_variant R181Q 542G>A RECA-EU 4 88077628 88077628 single base substitution C T downstream_gene_variant RECA-EU 4 88087416 88087416 single base substitution A G downstream_gene_variant RECA-EU 4 88087416 88087416 single base substitution A G intron_variant RECA-EU 4 88100270 88100270 single base substitution C T intron_variant RECA-EU 4 88100294 88100294 single base substitution A G intron_variant RECA-EU 4 88100618 88100618 single base substitution A T intron_variant RECA-EU 4 88127211 88127211 single base substitution A G intron_variant RECA-EU 4 88129628 88129628 single base substitution A G intron_variant RECA-EU 4 88139596 88139596 single base substitution C A downstream_gene_variant RECA-EU 4 88139596 88139596 single base substitution C A intron_variant RECA-EU 4 88142106 88142106 single base substitution G T exon_variant RECA-EU 4 88142106 88142106 single base substitution G T upstream_gene_variant RECA-EU 4 88151690 88151690 single base substitution A G intron_variant RECA-EU 4 88161062 88161062 single base substitution T G intron_variant RECA-EU 4 88163961 88163961 single base substitution T C upstream_gene_variant RECA-EU 4 88165355 88165355 single base substitution A G upstream_gene_variant SKCA-BR 4 88076320 88076320 single base substitution G A downstream_gene_variant SKCA-BR 4 88076321 88076321 single base substitution G A downstream_gene_variant SKCA-BR 4 88077323 88077323 single base substitution G A downstream_gene_variant SKCA-BR 4 88078683 88078683 single base substitution G A downstream_gene_variant SKCA-BR 4 88079312 88079312 single base substitution G A downstream_gene_variant SKCA-BR 4 88079359 88079359 single base substitution C T downstream_gene_variant SKCA-BR 4 88080064 88080064 insertion of <=200bp - AAAC downstream_gene_variant SKCA-BR 4 88081137 88081137 single base substitution A G downstream_gene_variant SKCA-BR 4 88083777 88083777 single base substitution T A 3_prime_UTR_variant SKCA-BR 4 88083777 88083777 single base substitution T A downstream_gene_variant SKCA-BR 4 88086734 88086734 single base substitution G C downstream_gene_variant SKCA-BR 4 88086734 88086734 single base substitution G C intron_variant SKCA-BR 4 88089183 88089183 single base substitution A C downstream_gene_variant SKCA-BR 4 88089183 88089183 single base substitution A C intron_variant SKCA-BR 4 88093243 88093243 single base substitution C T intron_variant SKCA-BR 4 88098656 88098656 insertion of <=200bp - CA intron_variant SKCA-BR 4 88103380 88103380 insertion of <=200bp - CA intron_variant SKCA-BR 4 88107920 88107920 single base substitution C T intron_variant SKCA-BR 4 88111796 88111797 deletion of <=200bp TA - intron_variant SKCA-BR 4 88114128 88114128 single base substitution T G intron_variant SKCA-BR 4 88115050 88115050 single base substitution G A intron_variant SKCA-BR 4 88118888 88118888 single base substitution A C intron_variant SKCA-BR 4 88119407 88119407 single base substitution G A intron_variant SKCA-BR 4 88123941 88123941 single base substitution G A intron_variant SKCA-BR 4 88126486 88126486 single base substitution G A intron_variant SKCA-BR 4 88130442 88130442 single base substitution G A intron_variant SKCA-BR 4 88134573 88134573 single base substitution G A intron_variant SKCA-BR 4 88141103 88141103 single base substitution A G exon_variant SKCA-BR 4 88141103 88141103 single base substitution A G intron_variant SKCA-BR 4 88141136 88141136 single base substitution A C exon_variant SKCA-BR 4 88141136 88141136 single base substitution A C intron_variant SKCA-BR 4 88143189 88143189 single base substitution A C intron_variant SKCA-BR 4 88143189 88143189 single base substitution A C upstream_gene_variant SKCA-BR 4 88145553 88145553 single base substitution G A intron_variant SKCA-BR 4 88145553 88145553 single base substitution G A upstream_gene_variant SKCA-BR 4 88146160 88146160 single base substitution C T intron_variant SKCA-BR 4 88146160 88146160 single base substitution C T upstream_gene_variant SKCA-BR 4 88147073 88147073 single base substitution C T intron_variant SKCA-BR 4 88148098 88148100 deletion of <=200bp ATT - intron_variant SKCA-BR 4 88148118 88148120 deletion of <=200bp ATT - intron_variant SKCA-BR 4 88148138 88148138 insertion of <=200bp - ATT intron_variant SKCA-BR 4 88150590 88150591 deletion of <=200bp TG - intron_variant SKCA-BR 4 88152641 88152641 single base substitution C T intron_variant SKCA-BR 4 88155588 88155588 insertion of <=200bp - CA intron_variant SKCA-BR 4 88156278 88156278 single base substitution C T intron_variant SKCA-BR 4 88157898 88157898 single base substitution A T intron_variant SKCA-BR 4 88160062 88160062 single base substitution G A intron_variant SKCA-BR 4 88161355 88161355 single base substitution T C intron_variant SKCA-BR 4 88162375 88162375 single base substitution G A upstream_gene_variant SKCA-BR 4 88162414 88162414 single base substitution A G upstream_gene_variant SKCA-BR 4 88163630 88163630 single base substitution T C upstream_gene_variant SKCA-BR 4 88163985 88163985 single base substitution T A upstream_gene_variant SKCA-BR 4 88165624 88165624 single base substitution G A upstream_gene_variant SKCA-BR 4 88165910 88165910 single base substitution G A upstream_gene_variant SKCM-US 4 88084715 88084715 single base substitution G A 3_prime_UTR_variant SKCM-US 4 88084715 88084715 single base substitution G A downstream_gene_variant SKCM-US 4 88084715 88084715 single base substitution G A stop_gained R256* 766C>T SKCM-US 4 88084715 88084715 single base substitution G A stop_gained R424* 1270C>T SKCM-US 4 88084715 88084715 single base substitution G A stop_gained R531* 1591C>T SKCM-US 4 88084715 88084715 single base substitution G A stop_gained R607* 1819C>T SKCM-US 4 88085211 88085211 single base substitution G A 3_prime_UTR_variant SKCM-US 4 88085211 88085211 single base substitution G A exon_variant SKCM-US 4 88085211 88085211 single base substitution G A missense_variant P169S 505C>T SKCM-US 4 88085211 88085211 single base substitution G A missense_variant P337S 1009C>T SKCM-US 4 88085211 88085211 single base substitution G A missense_variant P444S 1330C>T SKCM-US 4 88085211 88085211 single base substitution G A missense_variant P520S 1558C>T SKCM-US 4 88085213 88085213 single base substitution G A 3_prime_UTR_variant SKCM-US 4 88085213 88085213 single base substitution G A exon_variant SKCM-US 4 88085213 88085213 single base substitution G A missense_variant S168F 503C>T SKCM-US 4 88085213 88085213 single base substitution G A missense_variant S336F 1007C>T SKCM-US 4 88085213 88085213 single base substitution G A missense_variant S443F 1328C>T SKCM-US 4 88085213 88085213 single base substitution G A missense_variant S519F 1556C>T SKCM-US 4 88091628 88091628 single base substitution G A 3_prime_UTR_variant SKCM-US 4 88091628 88091628 single base substitution G A exon_variant SKCM-US 4 88091628 88091628 single base substitution G A missense_variant R267C 799C>T SKCM-US 4 88091628 88091628 single base substitution G A missense_variant R374C 1120C>T SKCM-US 4 88091628 88091628 single base substitution G A missense_variant R450C 1348C>T SKCM-US 4 88091628 88091628 single base substitution G A missense_variant R99C 295C>T SKCM-US 4 88091750 88091750 single base substitution G A 3_prime_UTR_variant SKCM-US 4 88091750 88091750 single base substitution G A exon_variant SKCM-US 4 88091750 88091750 single base substitution G A missense_variant A226V 677C>T SKCM-US 4 88091750 88091750 single base substitution G A missense_variant A333V 998C>T SKCM-US 4 88091750 88091750 single base substitution G A missense_variant A409V 1226C>T SKCM-US 4 88091750 88091750 single base substitution G A missense_variant A58V 173C>T SKCM-US 4 88106515 88106515 single base substitution G A intron_variant SKCM-US 4 88106515 88106515 single base substitution G A missense_variant S142F 425C>T SKCM-US 4 88106515 88106515 single base substitution G A missense_variant S218F 653C>T SKCM-US 4 88106875 88106875 single base substitution G A intron_variant SKCM-US 4 88106875 88106875 single base substitution G A missense_variant S98F 293C>T SKCM-US 4 88116516 88116516 single base substitution C T 5_prime_UTR_variant SKCM-US 4 88116516 88116516 single base substitution C T exon_variant SKCM-US 4 88116516 88116516 single base substitution C T intron_variant SKCM-US 4 88116516 88116516 single base substitution C T missense_variant R59Q 176G>A SKCM-US 4 88116637 88116637 single base substitution T C 5_prime_UTR_variant SKCM-US 4 88116637 88116637 single base substitution T C exon_variant SKCM-US 4 88116637 88116637 single base substitution T C intron_variant SKCM-US 4 88116637 88116637 single base substitution T C missense_variant K19E 55A>G STAD-US 4 88091339 88091339 single base substitution C T 3_prime_UTR_variant STAD-US 4 88091339 88091339 single base substitution C T downstream_gene_variant STAD-US 4 88091339 88091339 single base substitution C T exon_variant STAD-US 4 88091339 88091339 single base substitution C T missense_variant V126M 376G>A STAD-US 4 88091339 88091339 single base substitution C T missense_variant V294M 880G>A STAD-US 4 88091339 88091339 single base substitution C T missense_variant V401M 1201G>A STAD-US 4 88091339 88091339 single base substitution C T missense_variant V477M 1429G>A STAD-US 4 88091651 88091651 single base substitution G A 3_prime_UTR_variant STAD-US 4 88091651 88091651 single base substitution G A exon_variant STAD-US 4 88091651 88091651 single base substitution G A missense_variant T259I 776C>T STAD-US 4 88091651 88091651 single base substitution G A missense_variant T366I 1097C>T STAD-US 4 88091651 88091651 single base substitution G A missense_variant T442I 1325C>T STAD-US 4 88091651 88091651 single base substitution G A missense_variant T91I 272C>T STAD-US 4 88091723 88091723 single base substitution A G 3_prime_UTR_variant STAD-US 4 88091723 88091723 single base substitution A G exon_variant STAD-US 4 88091723 88091723 single base substitution A G missense_variant I235T 704T>C STAD-US 4 88091723 88091723 single base substitution A G missense_variant I342T 1025T>C STAD-US 4 88091723 88091723 single base substitution A G missense_variant I418T 1253T>C STAD-US 4 88091723 88091723 single base substitution A G missense_variant I67T 200T>C STAD-US 4 88091757 88091757 single base substitution C T 3_prime_UTR_variant STAD-US 4 88091757 88091757 single base substitution C T exon_variant STAD-US 4 88091757 88091757 single base substitution C T missense_variant A224T 670G>A STAD-US 4 88091757 88091757 single base substitution C T missense_variant A331T 991G>A STAD-US 4 88091757 88091757 single base substitution C T missense_variant A407T 1219G>A STAD-US 4 88091757 88091757 single base substitution C T missense_variant A56T 166G>A STAD-US 4 88099686 88099686 single base substitution A G 3_prime_UTR_variant STAD-US 4 88099686 88099686 single base substitution A G 5_prime_UTR_variant STAD-US 4 88099686 88099686 single base substitution A G exon_variant STAD-US 4 88099686 88099686 single base substitution A G intron_variant STAD-US 4 88099686 88099686 single base substitution A G missense_variant F164L 490T>C STAD-US 4 88099686 88099686 single base substitution A G missense_variant F271L 811T>C STAD-US 4 88099686 88099686 single base substitution A G missense_variant F347L 1039T>C STAD-US 4 88104378 88104378 single base substitution G A intron_variant STAD-US 4 88104378 88104378 single base substitution G A missense_variant T127I 380C>T STAD-US 4 88104378 88104378 single base substitution G A missense_variant T234I 701C>T STAD-US 4 88104378 88104378 single base substitution G A missense_variant T310I 929C>T STAD-US 4 88104415 88104415 single base substitution T C intron_variant STAD-US 4 88104415 88104415 single base substitution T C missense_variant S115G 343A>G STAD-US 4 88104415 88104415 single base substitution T C missense_variant S222G 664A>G STAD-US 4 88104415 88104415 single base substitution T C missense_variant S298G 892A>G STAD-US 4 88106516 88106516 single base substitution A G intron_variant STAD-US 4 88106516 88106516 single base substitution A G missense_variant S142P 424T>C STAD-US 4 88106516 88106516 single base substitution A G missense_variant S218P 652T>C STAD-US 4 88106783 88106783 single base substitution G A intron_variant STAD-US 4 88106783 88106783 single base substitution G A missense_variant R129W 385C>T STAD-US 4 88116474 88116474 single base substitution A G intron_variant STAD-US 4 88116474 88116474 single base substitution A G splice_donor_variant STAD-US 4 88116486 88116486 single base substitution A G 5_prime_UTR_variant STAD-US 4 88116486 88116486 single base substitution A G exon_variant STAD-US 4 88116486 88116486 single base substitution A G intron_variant STAD-US 4 88116486 88116486 single base substitution A G missense_variant V69A 206T>C THCA-SA 4 88082452 88082452 single base substitution T C 3_prime_UTR_variant THCA-SA 4 88082452 88082452 single base substitution T C downstream_gene_variant THCA-SA 4 88083107 88083107 single base substitution T C 3_prime_UTR_variant THCA-SA 4 88083107 88083107 single base substitution T C downstream_gene_variant UCEC-US 4 88084715 88084715 single base substitution G A 3_prime_UTR_variant UCEC-US 4 88084715 88084715 single base substitution G A downstream_gene_variant UCEC-US 4 88084715 88084715 single base substitution G A stop_gained R256* 766C>T UCEC-US 4 88084715 88084715 single base substitution G A stop_gained R424* 1270C>T UCEC-US 4 88084715 88084715 single base substitution G A stop_gained R531* 1591C>T UCEC-US 4 88084715 88084715 single base substitution G A stop_gained R607* 1819C>T UCEC-US 4 88085167 88085167 single base substitution C T 3_prime_UTR_variant UCEC-US 4 88085167 88085167 single base substitution C T exon_variant UCEC-US 4 88085167 88085167 single base substitution C T stop_gained W183* 549G>A UCEC-US 4 88085167 88085167 single base substitution C T stop_gained W351* 1053G>A UCEC-US 4 88085167 88085167 single base substitution C T stop_gained W458* 1374G>A UCEC-US 4 88085167 88085167 single base substitution C T stop_gained W534* 1602G>A UCEC-US 4 88091266 88091266 single base substitution C A 3_prime_UTR_variant UCEC-US 4 88091266 88091266 single base substitution C A downstream_gene_variant UCEC-US 4 88091266 88091266 single base substitution C A exon_variant UCEC-US 4 88091266 88091266 single base substitution C A missense_variant G150V 449G>T UCEC-US 4 88091266 88091266 single base substitution C A missense_variant G318V 953G>T UCEC-US 4 88091266 88091266 single base substitution C A missense_variant G425V 1274G>T UCEC-US 4 88091266 88091266 single base substitution C A missense_variant G501V 1502G>T UCEC-US 4 88091267 88091267 single base substitution C A 3_prime_UTR_variant UCEC-US 4 88091267 88091267 single base substitution C A downstream_gene_variant UCEC-US 4 88091267 88091267 single base substitution C A exon_variant UCEC-US 4 88091267 88091267 single base substitution C A stop_gained G150* 448G>T UCEC-US 4 88091267 88091267 single base substitution C A stop_gained G318* 952G>T UCEC-US 4 88091267 88091267 single base substitution C A stop_gained G425* 1273G>T UCEC-US 4 88091267 88091267 single base substitution C A stop_gained G501* 1501G>T UCEC-US 4 88091287 88091287 single base substitution C A 3_prime_UTR_variant UCEC-US 4 88091287 88091287 single base substitution C A downstream_gene_variant UCEC-US 4 88091287 88091287 single base substitution C A exon_variant UCEC-US 4 88091287 88091287 single base substitution C A missense_variant G143V 428G>T UCEC-US 4 88091287 88091287 single base substitution C A missense_variant G311V 932G>T UCEC-US 4 88091287 88091287 single base substitution C A missense_variant G418V 1253G>T UCEC-US 4 88091287 88091287 single base substitution C A missense_variant G494V 1481G>T UCEC-US 4 88091294 88091294 single base substitution C A 3_prime_UTR_variant UCEC-US 4 88091294 88091294 single base substitution C A downstream_gene_variant UCEC-US 4 88091294 88091294 single base substitution C A exon_variant UCEC-US 4 88091294 88091294 single base substitution C A stop_gained E141* 421G>T UCEC-US 4 88091294 88091294 single base substitution C A stop_gained E309* 925G>T UCEC-US 4 88091294 88091294 single base substitution C A stop_gained E416* 1246G>T UCEC-US 4 88091294 88091294 single base substitution C A stop_gained E492* 1474G>T UCEC-US 4 88091362 88091362 single base substitution T G 3_prime_UTR_variant UCEC-US 4 88091362 88091362 single base substitution T G exon_variant UCEC-US 4 88091362 88091362 single base substitution T G missense_variant D118A 353A>C UCEC-US 4 88091362 88091362 single base substitution T G missense_variant D286A 857A>C UCEC-US 4 88091362 88091362 single base substitution T G missense_variant D393A 1178A>C UCEC-US 4 88091362 88091362 single base substitution T G missense_variant D469A 1406A>C UCEC-US 4 88091730 88091730 single base substitution A G 3_prime_UTR_variant UCEC-US 4 88091730 88091730 single base substitution A G exon_variant UCEC-US 4 88091730 88091730 single base substitution A G missense_variant Y233H 697T>C UCEC-US 4 88091730 88091730 single base substitution A G missense_variant Y340H 1018T>C UCEC-US 4 88091730 88091730 single base substitution A G missense_variant Y416H 1246T>C UCEC-US 4 88091730 88091730 single base substitution A G missense_variant Y65H 193T>C UCEC-US 4 88097911 88097911 single base substitution C A intron_variant UCEC-US 4 88097911 88097911 single base substitution C A missense_variant K219N 657G>T UCEC-US 4 88097911 88097911 single base substitution C A missense_variant K326N 978G>T UCEC-US 4 88097911 88097911 single base substitution C A missense_variant K402N 1206G>T UCEC-US 4 88097911 88097911 single base substitution C A missense_variant K51N 153G>T UCEC-US 4 88097911 88097911 single base substitution C A splice_region_variant UCEC-US 4 88097982 88097982 single base substitution G A 3_prime_UTR_variant UCEC-US 4 88097982 88097982 single base substitution G A exon_variant UCEC-US 4 88097982 88097982 single base substitution G A intron_variant UCEC-US 4 88097982 88097982 single base substitution G A missense_variant H196Y 586C>T UCEC-US 4 88097982 88097982 single base substitution G A missense_variant H28Y 82C>T UCEC-US 4 88097982 88097982 single base substitution G A missense_variant H303Y 907C>T UCEC-US 4 88097982 88097982 single base substitution G A missense_variant H379Y 1135C>T UCEC-US 4 88099656 88099656 single base substitution G A 3_prime_UTR_variant UCEC-US 4 88099656 88099656 single base substitution G A exon_variant UCEC-US 4 88099656 88099656 single base substitution G A intron_variant UCEC-US 4 88099656 88099656 single base substitution G A stop_gained R174* 520C>T UCEC-US 4 88099656 88099656 single base substitution G A stop_gained R281* 841C>T UCEC-US 4 88099656 88099656 single base substitution G A stop_gained R357* 1069C>T UCEC-US 4 88099656 88099656 single base substitution G A stop_gained R6* 16C>T UCEC-US 4 88099724 88099724 single base substitution C T 3_prime_UTR_variant UCEC-US 4 88099724 88099724 single base substitution C T 5_prime_UTR_variant UCEC-US 4 88099724 88099724 single base substitution C T exon_variant UCEC-US 4 88099724 88099724 single base substitution C T intron_variant UCEC-US 4 88099724 88099724 single base substitution C T missense_variant R151H 452G>A UCEC-US 4 88099724 88099724 single base substitution C T missense_variant R258H 773G>A UCEC-US 4 88099724 88099724 single base substitution C T missense_variant R334H 1001G>A UCEC-US 4 88104375 88104375 single base substitution G C intron_variant UCEC-US 4 88104375 88104375 single base substitution G C missense_variant T128S 383C>G UCEC-US 4 88104375 88104375 single base substitution G C missense_variant T235S 704C>G UCEC-US 4 88104375 88104375 single base substitution G C missense_variant T311S 932C>G UCEC-US 4 88104381 88104381 single base substitution C T intron_variant UCEC-US 4 88104381 88104381 single base substitution C T missense_variant R126Q 377G>A UCEC-US 4 88104381 88104381 single base substitution C T missense_variant R233Q 698G>A UCEC-US 4 88104381 88104381 single base substitution C T missense_variant R309Q 926G>A UCEC-US 4 88104461 88104461 single base substitution A G intron_variant UCEC-US 4 88104461 88104461 single base substitution A G synonymous_variant C206C 618T>C UCEC-US 4 88104461 88104461 single base substitution A G synonymous_variant C282C 846T>C UCEC-US 4 88104461 88104461 single base substitution A G synonymous_variant C99C 297T>C UCEC-US 4 88106635 88106635 single base substitution C A intron_variant UCEC-US 4 88106635 88106635 single base substitution C A missense_variant S102I 305G>T UCEC-US 4 88106635 88106635 single base substitution C A missense_variant S178I 533G>T UCEC-US 4 88106885 88106885 single base substitution T G intron_variant UCEC-US 4 88106885 88106885 single base substitution T G missense_variant M95L 283A>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SJHGG099_D COSM4971746 c.626C>T p.S209L Substitution - Missense 4:87185390-87185390 - SNUH_G73_S1 COSM4415022 c.1299T>C p.Y433Y Substitution - coding silent 4:87170525-87170525 - TCGA-AM-5820-01 COSM3696768 c.647T>G p.L216R Substitution - Missense 4:87185369-87185369 - PT46 COSM5928602 c.122C>T p.S41F Substitution - Missense 4:87195418-87195418 - TARGET-30-PAREAG COSM1285808 c.977G>A p.R326Q Substitution - Missense 4:87178596-87178596 - LUAD-NYU284 COSM373157 c.1070G>C p.R357P Substitution - Missense 4:87178503-87178503 - TCGA-BT-A42C-01 COSM4390120 c.1194A>C p.S398S Substitution - coding silent 4:87176771-87176771 - OSCC-GB_01230111 COSM4971746 c.626C>T p.S209L Substitution - Missense 4:87185390-87185390 - TCGA-CG-5721-01 COSM4126560 c.1039T>C p.F347L Substitution - Missense 4:87178534-87178534 - TCGA-EE-A29D-06 COSM3606817 c.1558C>T p.P520S Substitution - Missense 4:87164059-87164059 - T3503 COSM1058593 c.1001G>A p.R334H Substitution - Missense 4:87178572-87178572 - TCGA-BR-8368-01 COSM4126558 c.1253T>C p.I418T Substitution - Missense 4:87170571-87170571 - TCGA-B5-A0K9-01 COSM1058592 c.1069C>T p.R357* Substitution - Nonsense 4:87178504-87178504 - HCC2998 COSM1671125 c.142G>T p.E48* Substitution - Nonsense 4:87195398-87195398 - TCGA-ER-A194-01 COSM3606818 c.1556C>T p.S519F Substitution - Missense 4:87164061-87164061 - HN_00761 COSM124009 c.1211G>A p.R404Q Substitution - Missense 4:87170613-87170613 - 2293782 COSM4609092 c.1093G>T p.E365* Substitution - Nonsense 4:87178480-87178480 - TCGA-BG-A0MQ-01 COSM1058596 c.846T>C p.C282C Substitution - coding silent 4:87183309-87183309 - TCGA-B0-4841-01 COSM3365732 c.1032C>T p.N344N Substitution - coding silent 4:87178541-87178541 - 98711 COSM325643 c.355G>C p.E119Q Substitution - Missense 4:87185661-87185661 - 1517_PT COSM1058593 c.1001G>A p.R334H Substitution - Missense 4:87178572-87178572 - TCGA-FW-A3R5-06 COSM3918299 c.653C>T p.S218F Substitution - Missense 4:87185363-87185363 - SC_9047 COSM5561059 c.1341T>C p.N447N Substitution - coding silent 4:87170483-87170483 - CSCC-32-T COSM4527454 c.1465G>A p.E489K Substitution - Missense 4:87170151-87170151 - 587376 COSM1212687 c.1243A>G p.I415V Substitution - Missense 4:87170581-87170581 - PD4847a COSM5778075 c.651G>T p.L217F Substitution - Missense 4:87185365-87185365 - RK080_C01 COSM1633831 c.199T>A p.C67S Substitution - Missense 4:87195341-87195341 - TCGA-D8-A27G-01 COSM3826390 c.1678G>A p.G560S Substitution - Missense 4:87163939-87163939 - TCGA-D1-A17Q-01 COSM1058594 c.932C>G p.T311S Substitution - Missense 4:87183223-87183223 - TCGA-76-4928-01 COSM2957008 c.1530C>T p.Y510Y Substitution - coding silent 4:87170086-87170086 - CN-AML-NR-14-Dx COSM5426298 c.260G>T p.C87F Substitution - Missense 4:87185756-87185756 - ESO-1427 COSM1256005 c.1777G>A p.G593R Substitution - Missense 4:87163605-87163605 - GC_370T-GC_370N COSM4773005 c.1471A>G p.K491E Substitution - Missense 4:87170145-87170145 - CPCG0387-F1 COSM4880607 c.1351G>A p.G451R Substitution - Missense 4:87170473-87170473 - C91 COSM4444979 c.457G>A p.A153T Substitution - Missense 4:87185559-87185559 - HCC2998 COSM1671125 c.142G>T p.E48* Substitution - Nonsense 4:87195398-87195398 - 2_RESISTANT COSM1722160 c.1839C>T p.S613S Substitution - coding silent 4:87163543-87163543 - PD13606a COSM5770416 c.1258G>T p.G420W Substitution - Missense 4:87170566-87170566 - TCGA-BR-8487-01 COSM4126556 c.1429G>A p.V477M Substitution - Missense 4:87170187-87170187 - SNU-C4 COSM4653844 c.599T>C p.V200A Substitution - Missense 4:87185417-87185417 - TCGA-AA-A00N-01 COSM275767 c.542G>A p.R181Q Substitution - Missense 4:87185474-87185474 - WSU-HN13 COSM4601801 c.260G>C p.C87S Substitution - Missense 4:87185756-87185756 - TCGA-A7-A0DB-01 COSM3826394 c.412C>A p.Q138K Substitution - Missense 4:87185604-87185604 - Pat_27_B COSM5866902 c.496C>T p.P166S Substitution - Missense 4:87185520-87185520 - ATL032 COSM5709386 c.1134A>C p.E378D Substitution - Missense 4:87176831-87176831 - BRC11 COSM5026187 c.10G>A p.D4N Substitution - Missense 4:87195530-87195530 - TCGA-AX-A0J1-01 COSM1058593 c.1001G>A p.R334H Substitution - Missense 4:87178572-87178572 - T2944 COSM4696605 c.1695T>C p.N565N Substitution - coding silent 4:87163922-87163922 - CSCC-56-T COSM4515196 c.1451_1452TG>AT p.L484H Substitution - Missense 4:87170164-87170165 - TCGA-EP-A2KB-01 COSM4921411 c.1116T>C p.G372G Substitution - coding silent 4:87176849-87176849 - TCGA-AP-A059-01 COSM1058585 c.1501G>T p.G501* Substitution - Nonsense 4:87170115-87170115 - CSCC-27-T COSM4472089 c.175C>T p.R59* Substitution - Nonsense 4:87195365-87195365 - TCGA-FU-A40J-01 COSM4844003 c.1763C>T p.S588F Substitution - Missense 4:87163619-87163619 - TCGA-BR-4292-01 COSM4126559 c.1219G>A p.A407T Substitution - Missense 4:87170605-87170605 - TCGA-B5-A11Q-01 COSM1058586 c.1481G>T p.G494V Substitution - Missense 4:87170135-87170135 - TCGA-EE-A2MT-06 COSM3918300 c.293C>T p.S98F Substitution - Missense 4:87185723-87185723 - TCGA-D8-A1Y3-01 COSM1486140 c.727C>T p.Q243* Substitution - Nonsense 4:87185289-87185289 - TCGA-RC-A7SK-01 COSM4918540 c.308C>G p.A103G Substitution - Missense 4:87185708-87185708 - TCGA-EE-A2GJ-06 COSM3606820 c.176G>A p.R59Q Substitution - Missense 4:87195364-87195364 - TCGA-AP-A051-01 COSM1058583 c.1602G>A p.W534* Substitution - Nonsense 4:87164015-87164015 - Pat_06_A COSM5866901 c.698C>T p.A233V Substitution - Missense 4:87185318-87185318 - TCGA-AP-A059-01 COSM1058591 c.1135C>T p.H379Y Substitution - Missense 4:87176830-87176830 - SW1417 COSM2957028 c.480G>C p.M160I Substitution - Missense 4:87185536-87185536 - PD4099a COSM162032 c.180T>G p.F60L Substitution - Missense 4:87195360-87195360 - CHC051T COSM3669317 c.1447C>T p.H483Y Substitution - Missense 4:87170169-87170169 - TCGA-EE-A3JB-06 COSM4898604 c.1226C>T p.A409V Substitution - Missense 4:87170598-87170598 - TCGA-F5-6814-01 COSM275767 c.542G>A p.R181Q Substitution - Missense 4:87185474-87185474 - TCGA-AX-A0J0-01 COSM1058598 c.283A>C p.M95L Substitution - Missense 4:87185733-87185733 - TCGA-18-3409-01 COSM735408 c.629C>A p.P210Q Substitution - Missense 4:87185387-87185387 - 587376 COSM1212686 c.1612G>A p.A538T Substitution - Missense 4:87164005-87164005 - TCGA-CM-4743-01 COSM1431584 c.257C>T p.A86V Substitution - Missense 4:87185759-87185759 - TCGA-D1-A17Q-01 COSM1058587 c.1474G>T p.E492* Substitution - Nonsense 4:87170142-87170142 - sysucc-274T COSM5476542 c.539A>C p.N180T Substitution - Missense 4:87185477-87185477 - TCGA-EI-6917-01 COSM3749891 c.1000C>T p.R334C Substitution - Missense 4:87178573-87178573 - TCGA-B5-A0JY-01 COSM1058587 c.1474G>T p.E492* Substitution - Nonsense 4:87170142-87170142 - TCGA-EB-A3Y7-01 COSM3606819 c.1348C>T p.R450C Substitution - Missense 4:87170476-87170476 - TCGA-BP-4974-01 COSM481655 c.471T>C p.C157C Substitution - coding silent 4:87185545-87185545 - 254891 COSM3724648 c.1539T>A p.G513G Substitution - coding silent 4:87164078-87164078 - 587350 COSM1212685 c.335A>T p.D112V Substitution - Missense 4:87185681-87185681 - TCGA-BR-6452-01 COSM4126563 c.652T>C p.S218P Substitution - Missense 4:87185364-87185364 - TCGA-A8-A090-01 COSM448299 c.785C>T p.P262L Substitution - Missense 4:87183370-87183370 - TCGA-A2-A3XZ-01 COSM3826392 c.1067G>A p.R356K Substitution - Missense 4:87178506-87178506 - TCGA-AP-A051-01 COSM1058584 c.1502G>T p.G501V Substitution - Missense 4:87170114-87170114 - 2_PRE-TREATMENT COSM1722160 c.1839C>T p.S613S Substitution - coding silent 4:87163543-87163543 - CN-AML-14-T COSM5426298 c.260G>T p.C87F Substitution - Missense 4:87185756-87185756 - OSCC-GB_00160111 COSM3714904 c.1546G>T p.D516Y Substitution - Missense 4:87164071-87164071 - TCGA-Q1-A73O-01 COSM4836301 c.118G>C p.D40H Substitution - Missense 4:87195422-87195422 - TCGA-BS-A0UV-01 COSM1058597 c.533G>T p.S178I Substitution - Missense 4:87185483-87185483 - TCGA-FG-7643-01 COSM3975085 c.1288G>A p.V430M Substitution - Missense 4:87170536-87170536 - 71M COSM4472089 c.175C>T p.R59* Substitution - Nonsense 4:87195365-87195365 - 01-P1216 COSM4585271 c.1440T>C p.Y480Y Substitution - coding silent 4:87170176-87170176 - TCGA-60-2698-01 COSM735407 c.213C>G p.L71L Substitution - coding silent 4:87195327-87195327 - TCGA-BR-7707-01 COSM4126565 c.216+2T>C p.? Unknown 4:87195322-87195322 - HCT116 COSM2957014 c.1196T>C p.M399T Substitution - Missense 4:87176769-87176769 - TCGA-BS-A0UA-01 COSM1058582 c.1819C>T p.R607* Substitution - Nonsense 4:87163563-87163563 - SJHGG099_D COSM4971747 c.568C>T p.Q190* Substitution - Nonsense 4:87185448-87185448 - CHC051T COSM3669317 c.1447C>T p.H483Y Substitution - Missense 4:87170169-87170169 - TCGA-BR-4361-01 COSM4126564 c.385C>T p.R129W Substitution - Missense 4:87185631-87185631 - TCGA-AN-A046-01 COSM3826393 c.1064G>A p.R355Q Substitution - Missense 4:87178509-87178509 - TCGA-H4-A2HO-01 COSM1310352 c.1023C>T p.I341I Substitution - coding silent 4:87178550-87178550 - CN-AML-08-T COSM5425842 c.1377+10A>T p.? Unknown 4:87170437-87170437 - SJRHB012 COSM4776330 c.960G>C p.L320L Substitution - coding silent 4:87178613-87178613 - CHEWS030 COSM4585272 c.894C>T p.S298S Substitution - coding silent 4:87183261-87183261 - TCGA-EE-A2GP-06 COSM1058582 c.1819C>T p.R607* Substitution - Nonsense 4:87163563-87163563 - LUAD-NYU1021 COSM368174 c.1102G>T p.V368L Substitution - Missense 4:87176863-87176863 - TCGA-BG-A18B-01 COSM1058595 c.926G>A p.R309Q Substitution - Missense 4:87183229-87183229 - TCGA-AX-A05Z-01 COSM1058590 c.1206G>T p.K402N Substitution - Missense 4:87176759-87176759 - TCGA-CA-6717-01 COSM1431582 c.872A>C p.N291T Substitution - Missense 4:87183283-87183283 - TCGA-29-1784-01 COSM1328357 c.1211G>T p.R404L Substitution - Missense 4:87170613-87170613 - TCGA-BQ-7060-01 COSM3993838 c.1413G>A p.M471I Substitution - Missense 4:87170203-87170203 - TCGA-BR-4368-01 COSM4126557 c.1325C>T p.T442I Substitution - Missense 4:87170499-87170499 - T3503 COSM4696606 c.1031delA p.N344fs*9 Deletion - Frameshift 4:87178542-87178542 - T578 COSM4696608 c.769C>T p.R257C Substitution - Missense 4:87183386-87183386 - TCGA-EB-A3XD-01 COSM3606821 c.55A>G p.K19E Substitution - Missense 4:87195485-87195485 - TCGA-BR-4256-01 COSM4126562 c.892A>G p.S298G Substitution - Missense 4:87183263-87183263 - TCGA-AX-A0J0-01 COSM1058587 c.1474G>T p.E492* Substitution - Nonsense 4:87170142-87170142 - TCGA-BS-A0UV-01 COSM1058588 c.1406A>C p.D469A Substitution - Missense 4:87170210-87170210 - TCGA-AX-A0J0-01 COSM1058582 c.1819C>T p.R607* Substitution - Nonsense 4:87163563-87163563 - TCGA-BR-4362-01 COSM4126566 c.206T>C p.V69A Substitution - Missense 4:87195334-87195334 - TCGA-D7-6528-01 COSM4126561 c.929C>T p.T310I Substitution - Missense 4:87183226-87183226 - CHC1704T COSM5347752 c.1740-28_1742del31 p.? Unknown 4:87163640-87163670 - 587300 COSM1212683 c.360C>A p.D120E Substitution - Missense 4:87185656-87185656 - ESCC_104 COSM5638376 c.234C>T p.I78I Substitution - coding silent 4:87185782-87185782 - 010-0028-02TD COSM5416818 c.1477A>G p.M493V Substitution - Missense 4:87170139-87170139 - CSCC-49-T COSM4528591 c.154G>A p.D52N Substitution - Missense 4:87195386-87195386 - 61 COSM5737018 c.1850T>C p.V617A Substitution - Missense 4:87163532-87163532 - TCGA-A8-A0A6-01 COSM3826391 c.1635T>G p.G545G Substitution - coding silent 4:87163982-87163982 - T3147 COSM4696607 c.974G>C p.G325A Substitution - Missense 4:87178599-87178599 - GC8_T COSM149707 c.174T>C p.L58L Substitution - coding silent 4:87195366-87195366 - DN120FF COSM5770416 c.1258G>T p.G420W Substitution - Missense 4:87170566-87170566 - TCGA-D8-A27G-01 COSM3826395 c.325G>C p.E109Q Substitution - Missense 4:87185691-87185691 - T3090 COSM4126556 c.1429G>A p.V477M Substitution - Missense 4:87170187-87170187 - HCC2998 COSM2957015 c.1175A>C p.K392T Substitution - Missense 4:87176790-87176790 - 587222 COSM1212684 c.1210C>T p.R404* Substitution - Nonsense 4:87170614-87170614 - 16T COSM3714904 c.1546G>T p.D516Y Substitution - Missense 4:87164071-87164071 - TCGA-BG-A0VX-01 COSM1058582 c.1819C>T p.R607* Substitution - Nonsense 4:87163563-87163563 - CN-AML-NR-08-Dx COSM5425842 c.1377+10A>T p.? Unknown 4:87170437-87170437 - 587376 COSM1212688 c.185A>T p.E62V Substitution - Missense 4:87195355-87195355 - 548 COSM5612977 c.847A>G p.R283G Substitution - Missense 4:87183308-87183308 - BK0055 COSM4188136 c.1652C>A p.T551K Substitution - Missense 4:87163965-87163965 - TCGA-B5-A0K9-01 COSM1058589 c.1246T>C p.Y416H Substitution - Missense 4:87170578-87170578 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.106601 4q22.1 611967

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F60L c.180T>G 4 88116512 BRCA A C Synonymous p.S437S c.1311T>G 4 88091665 COREAD A G Missense p.Y416H c.1246T>C 4 88091730 UCEC A G Synonymous p.C157C c.471T>C 4 88106697 RCCC A G Synonymous p.C282C c.846T>C 4 88104461 UCEC C A Missense p.A472S c.1414G>T 4 88091354 LUAD C A Missense p.G494V c.1481G>T 4 88091287 UCEC C A Missense p.R580S c.1740G>T 4 88084794 CM C G Missense p.E119Q c.355G>C 4 88106813 SCLC C T Missense p.A407T c.1219G>A 4 88091757 STAD C T Missense p.D4N c.10G>A 4 88116682 BRCA C T Missense p.G593R c.1777G>A 4 88084757 ESCA C T Missense p.R309Q c.926G>A 4 88104381 UCEC C T Missense p.R326Q c.977G>A 4 88099748 NB C T Missense p.R404Q c.1211G>A 4 88091765 HNSC C T Missense p.R59Q c.176G>A 4 88116516 CM C T Missense p.V430M c.1288G>A 4 88091688 LGG G A Missense p.A407V c.1220C>T 4 88091756 CM G A Missense p.A409V c.1226C>T 4 88091750 CM G A Missense p.P262L c.785C>T 4 88104522 BRCA G A Missense p.P90S c.268C>T 4 88106900 HNSC G A Missense p.S519F c.1556C>T 4 88085213 CM G A Missense p.S75L c.224C>T 4 88106944 CM G A Missense p.S98F c.293C>T 4 88106875 CM G A Missense p.T310I c.929C>T 4 88104378 STAD G A Missense p.T442I c.1325C>T 4 88091651 STAD G A Nonsense p.Q243* c.727C>T 4 88106441 BRCA G A Nonsense p.R357* c.1069C>T 4 88099656 UCEC G A Nonsense p.R607* c.1819C>T 4 88084715 CM G A Nonsense p.R607* c.1819C>T 4 88084715 UCEC G A Synonymous p.I341I c.1023C>T 4 88099702 BLCA G A Synonymous p.N344N c.1032C>T 4 88099693 RCCC G A Synonymous p.V125V c.375C>T 4 88106793 LUAD G A Synonymous p.Y510Y c.1530C>T 4 88091238 GBM G C 5-UTRSNV . c.1-24994C>G 4 88141685 MB GG AA Missense p.R530* c.1587_1588delinsTT 4 88085181 CM - T 5-UTRInsertion . c.1-50dupA 4 88116741 ESCA T A IntronicSNV . c.1-19424A>T 4 88136115 CLL T C Missense p.S298G c.892A>G 4 88104415 STAD T - Frameshift p.R20Gfs*8 c.58delA 4 88116634 PRAD