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 ACC 5 136973018 136973018 + Missense_Mutation SNP G G A TCGA-OR-A5J1-01A-11D-A29I-10 TCGA-OR-A5J1-10A-01D-A29L-10 g.chr5:136973018G>A c.1286C>T c.(1285-1287)aCg>aTg p.T429M ACC 5 137056267 137056267 + Silent SNP C C T TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 g.chr5:137056267C>T c.21G>A c.(19-21)aaG>aaA p.K7K BLCA 5 136964097 136964097 + Missense_Mutation SNP C C T TCGA-CF-A9FH-01A-11D-A38G-08 TCGA-CF-A9FH-10A-01D-A38J-08 g.chr5:136964097C>T c.1480G>A c.(1480-1482)Gcc>Acc p.A494T BLCA 5 136969816 136969816 + Missense_Mutation SNP G G A TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 g.chr5:136969816G>A c.1360C>T c.(1360-1362)Cgc>Tgc p.R454C BLCA 5 136973012 136973012 + Missense_Mutation SNP C C T TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 g.chr5:136973012C>T c.1292G>A c.(1291-1293)cGg>cAg p.R431Q BLCA 5 136993882 136993882 + Missense_Mutation SNP C C A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 g.chr5:136993882C>A c.841G>T c.(841-843)Gat>Tat p.D281Y BRCA 5 136969761 136969762 + Frame_Shift_Del DEL TA TA - TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 g.chr5:136969761_136969762delTA c.1414_1415delTA c.(1414-1416)tacfs p.Y472fs BRCA 5 137027977 137027977 + Missense_Mutation SNP C C T TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr5:137027977C>T c.523G>A c.(523-525)Gca>Aca p.A175T BRCA 5 137071327 137071327 + Silent SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr5:137071327A>C c.9T>G c.(7-9)ggT>ggG p.G3G CESC 5 136964039 136964039 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr5:136964039C>T c.1538G>A c.(1537-1539)gGa>gAa p.G513E CESC 5 136997701 136997701 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr5:136997701G>C c.656C>G c.(655-657)tCa>tGa p.S219* CHOL 5 136997638 136997638 + Missense_Mutation SNP C C A TCGA-4G-AAZO-01A-12D-A417-09 TCGA-4G-AAZO-11A-11D-A41A-09 g.chr5:136997638C>A c.719G>T c.(718-720)cGa>cTa p.R240L COAD 5 136964097 136964097 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:136964097C>T c.1480G>A c.(1480-1482)Gcc>Acc p.A494T COAD 5 136964100 136964100 + Missense_Mutation SNP A A G TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr5:136964100A>G c.1477T>C c.(1477-1479)Tac>Cac p.Y493H COAD 5 136969755 136969755 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr5:136969755G>A c.1421C>T c.(1420-1422)gCg>gTg p.A474V COAD 5 136973057 136973057 + Missense_Mutation SNP T T C TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr5:136973057T>C c.1247A>G c.(1246-1248)tAc>tGc p.Y416C COAD 5 136997639 136997639 + Nonsense_Mutation SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr5:136997639G>A c.718C>T c.(718-720)Cga>Tga p.R240* COAD 5 137013247 137013247 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:137013247G>T c.623C>A c.(622-624)tCt>tAt p.S208Y COAD 5 137013264 137013264 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr5:137013264G>A c.606C>T c.(604-606)agC>agT p.S202S COAD 5 137028043 137028043 + Missense_Mutation SNP G G T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr5:137028043G>T c.457C>A c.(457-459)Ctg>Atg p.L153M COADREAD 5 136964097 136964097 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:136964097C>T c.1480G>A c.(1480-1482)Gcc>Acc p.A494T COADREAD 5 136964100 136964100 + Missense_Mutation SNP A A G TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr5:136964100A>G c.1477T>C c.(1477-1479)Tac>Cac p.Y493H COADREAD 5 136969755 136969755 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr5:136969755G>A c.1421C>T c.(1420-1422)gCg>gTg p.A474V COADREAD 5 136973057 136973057 + Missense_Mutation SNP T T C TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr5:136973057T>C c.1247A>G c.(1246-1248)tAc>tGc p.Y416C COADREAD 5 136997639 136997639 + Nonsense_Mutation SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr5:136997639G>A c.718C>T c.(718-720)Cga>Tga p.R240* COADREAD 5 136997685 136997685 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:136997685C>A c.672G>T c.(670-672)gaG>gaT p.E224D COADREAD 5 137013247 137013247 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:137013247G>T c.623C>A c.(622-624)tCt>tAt p.S208Y COADREAD 5 137013264 137013264 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr5:137013264G>A c.606C>T c.(604-606)agC>agT p.S202S COADREAD 5 137028043 137028043 + Missense_Mutation SNP G G T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr5:137028043G>T c.457C>A c.(457-459)Ctg>Atg p.L153M COADREAD 5 137034039 137034039 + Silent SNP C C T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr5:137034039C>T c.300G>A c.(298-300)acG>acA p.T100T DLBC 5 136975604 136975604 + Silent SNP G G A TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr5:136975604G>A c.966C>T c.(964-966)ttC>ttT p.F322F GBM 5 137045486 137045486 + Missense_Mutation SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 g.chr5:137045486C>T c.194G>A c.(193-195)cGt>cAt p.R65H GBMLGG 5 136993906 136993906 + Missense_Mutation SNP T T C TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 g.chr5:136993906T>C c.817A>G c.(817-819)Atg>Gtg p.M273V GBMLGG 5 137045486 137045486 + Missense_Mutation SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 g.chr5:137045486C>T c.194G>A c.(193-195)cGt>cAt p.R65H HNSC 5 136964011 136964011 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr5:136964011G>A c.1566C>T c.(1564-1566)gaC>gaT p.D522D HNSC 5 136974777 136974777 + Missense_Mutation SNP G G A TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 g.chr5:136974777G>A c.1084C>T c.(1084-1086)Cgg>Tgg p.R362W HNSC 5 137028128 137028128 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr5:137028128G>A c.372C>T c.(370-372)ctC>ctT p.L124L HNSC 5 137045500 137045500 + Silent SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr5:137045500C>T c.180G>A c.(178-180)gaG>gaA p.E60E HNSC 5 137056200 137056200 + Missense_Mutation SNP G G A TCGA-WA-A7H4-01A-21D-A34J-08 TCGA-WA-A7H4-10A-01D-A34M-08 g.chr5:137056200G>A c.88C>T c.(88-90)Cct>Tct p.P30S HNSC 5 137056259 137056259 + Missense_Mutation SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr5:137056259G>A c.29C>T c.(28-30)tCc>tTc p.S10F KIPAN 5 136963990 136963990 + Silent SNP G G A TCGA-BQ-5891-01A-11D-1589-08 TCGA-BQ-5891-11A-01D-1589-08 g.chr5:136963990G>A c.1587C>T c.(1585-1587)aaC>aaT p.N529N KIPAN 5 136974757 136974757 + Silent SNP G G A TCGA-B0-5081-01A-01D-1462-08 TCGA-B0-5081-11A-01D-1462-08 g.chr5:136974757G>A c.1104C>T c.(1102-1104)gaC>gaT p.D368D KIPAN 5 136975648 136975648 + Missense_Mutation SNP C C T TCGA-BQ-5890-01A-11D-1589-08 TCGA-BQ-5890-11A-01D-1589-08 g.chr5:136975648C>T c.922G>A c.(922-924)Ggc>Agc p.G308S KIRC 5 136974757 136974757 + Silent SNP G G A TCGA-B0-5081-01A-01D-1462-08 TCGA-B0-5081-11A-01D-1462-08 g.chr5:136974757G>A c.1104C>T c.(1102-1104)gaC>gaT p.D368D KIRP 5 136963990 136963990 + Silent SNP G G A TCGA-BQ-5891-01A-11D-1589-08 TCGA-BQ-5891-11A-01D-1589-08 g.chr5:136963990G>A c.1587C>T c.(1585-1587)aaC>aaT p.N529N KIRP 5 136975648 136975648 + Missense_Mutation SNP C C T TCGA-BQ-5890-01A-11D-1589-08 TCGA-BQ-5890-11A-01D-1589-08 g.chr5:136975648C>T c.922G>A c.(922-924)Ggc>Agc p.G308S LGG 5 136993906 136993906 + Missense_Mutation SNP T T C TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 g.chr5:136993906T>C c.817A>G c.(817-819)Atg>Gtg p.M273V LIHC 5 136963985 136963985 + Splice_Site SNP C C A TCGA-CC-A3MA-01A-11D-A20W-10 TCGA-CC-A3MA-10A-01D-A20W-10 g.chr5:136963985C>A c.e13+1 LIHC 5 136974747 136974747 + Missense_Mutation SNP C C G TCGA-DD-AAC9-01A-11D-A40R-10 TCGA-DD-AAC9-10A-01D-A40U-10 g.chr5:136974747C>G c.1114G>C c.(1114-1116)Gac>Cac p.D372H LUAD 5 136961545 136961545 + Silent SNP C C A TCGA-86-8279-01A-11D-2284-08 TCGA-86-8279-10A-01D-2284-08 g.chr5:136961545C>A c.1632G>T c.(1630-1632)ggG>ggT p.G544G LUAD 5 136964068 136964068 + Silent SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr5:136964068C>A c.1509G>T c.(1507-1509)gtG>gtT p.V503V LUAD 5 136969802 136969802 + Silent SNP G G A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 g.chr5:136969802G>A c.1374C>T c.(1372-1374)agC>agT p.S458S LUAD 5 136972995 136972995 + Missense_Mutation SNP C C A TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chr5:136972995C>A c.1309G>T c.(1309-1311)Ggc>Tgc p.G437C LUAD 5 136974696 136974696 + Missense_Mutation SNP C C A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 g.chr5:136974696C>A c.1165G>T c.(1165-1167)Gca>Tca p.A389S LUAD 5 137013243 137013243 + Silent SNP T T G TCGA-50-5066-01A-01D-1625-08 TCGA-50-5066-10A-01D-1625-08 g.chr5:137013243T>G c.627A>C c.(625-627)tcA>tcC p.S209S LUAD 5 137028039 137028039 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 g.chr5:137028039C>A c.461G>T c.(460-462)gGc>gTc p.G154V LUAD 5 137034054 137034054 + Silent SNP G G A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 g.chr5:137034054G>A c.285C>T c.(283-285)gaC>gaT p.D95D LUAD 5 137045461 137045461 + Silent SNP G G A TCGA-17-Z018-01A-01W-0746-08 TCGA-17-Z018-11A-01W-0746-08 g.chr5:137045461G>A c.219C>T c.(217-219)ccC>ccT p.P73P LUAD 5 137045486 137045486 + Missense_Mutation SNP C C G TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr5:137045486C>G c.194G>C c.(193-195)cGt>cCt p.R65P LUAD 5 137056262 137056262 + Missense_Mutation SNP C C G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 g.chr5:137056262C>G c.26G>C c.(25-27)aGc>aCc p.S9T LUSC 5 136961565 136961565 + Missense_Mutation SNP G G A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 g.chr5:136961565G>A c.1612C>T c.(1612-1614)Ctc>Ttc p.L538F LUSC 5 136963999 136963999 + Silent SNP G G A TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 g.chr5:136963999G>A c.1578C>T c.(1576-1578)tgC>tgT p.C526C OV 5 136961542 136961542 + Missense_Mutation SNP A A T TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 g.chr5:136961542A>T c.1635T>A c.(1633-1635)gaT>gaA p.D545E PAAD 5 136997650 136997650 + Missense_Mutation SNP A A G TCGA-FB-A5VM-01A-11D-A32N-08 TCGA-FB-A5VM-10A-01D-A32N-08 g.chr5:136997650A>G c.707T>C c.(706-708)aTg>aCg p.M236T PRAD 5 136963996 136963996 + Silent SNP C C T TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 g.chr5:136963996C>T c.1581G>A c.(1579-1581)cgG>cgA p.R527R PRAD 5 136969760 136969760 + Silent SNP G G A TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr5:136969760G>A c.1416C>T c.(1414-1416)taC>taT p.Y472Y PRAD 5 137013258 137013258 + Missense_Mutation SNP C C A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr5:137013258C>A c.612G>T c.(610-612)aaG>aaT p.K204N READ 5 136997685 136997685 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:136997685C>A c.672G>T c.(670-672)gaG>gaT p.E224D READ 5 137034039 137034039 + Silent SNP C C T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr5:137034039C>T c.300G>A c.(298-300)acG>acA p.T100T SARC 5 137045465 137045465 + Missense_Mutation SNP C C T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 g.chr5:137045465C>T c.215G>A c.(214-216)aGc>aAc p.S72N SKCM 5 136964008 136964008 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr5:136964008C>T c.1569G>A c.(1567-1569)atG>atA p.M523I SKCM 5 136964127 136964127 + Splice_Site SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr5:136964127C>T c.e13-1 SKCM 5 136969750 136969750 + Missense_Mutation SNP T T C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr5:136969750T>C c.1426A>G c.(1426-1428)Atg>Gtg p.M476V SKCM 5 136969778 136969778 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:136969778C>T c.1398G>A c.(1396-1398)gcG>gcA p.A466A SKCM 5 136974658 136974658 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:136974658G>A c.1203C>T c.(1201-1203)ggC>ggT p.G401G SKCM 5 137028034 137028034 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr5:137028034G>A c.466C>T c.(466-468)Cgt>Tgt p.R156C SKCM 5 137028077 137028077 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:137028077G>A c.423C>T c.(421-423)gaC>gaT p.D141D SKCM 5 137045464 137045464 + Silent SNP G G A TCGA-EE-A2GP-06A-11D-A197-08 TCGA-EE-A2GP-10A-01D-A199-08 g.chr5:137045464G>A c.216C>T c.(214-216)agC>agT p.S72S SKCM 5 137045491 137045491 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr5:137045491G>A c.189C>T c.(187-189)gcC>gcT p.A63A

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 5 136969816 136969816 single base substitution G A downstream_gene_variant BLCA-US 5 136969816 136969816 single base substitution G A exon_variant BLCA-US 5 136969816 136969816 single base substitution G A intron_variant BLCA-US 5 136969816 136969816 single base substitution G A missense_variant R372C 1114C>T BLCA-US 5 136969816 136969816 single base substitution G A missense_variant R422C 1264C>T BLCA-US 5 136969816 136969816 single base substitution G A missense_variant R454C 1360C>T BLCA-US 5 136969816 136969816 single base substitution G A upstream_gene_variant BOCA-FR 5 136951531 136951531 single base substitution A C downstream_gene_variant BRCA-EU 5 136948389 136948389 single base substitution C T downstream_gene_variant BRCA-EU 5 136948860 136948860 single base substitution C T downstream_gene_variant BRCA-EU 5 136949264 136949264 single base substitution G C downstream_gene_variant BRCA-EU 5 136949951 136949951 single base substitution C A downstream_gene_variant BRCA-EU 5 136950407 136950407 single base substitution G C downstream_gene_variant BRCA-EU 5 136951027 136951027 single base substitution C A downstream_gene_variant BRCA-EU 5 136951274 136951274 single base substitution G C downstream_gene_variant BRCA-EU 5 136951534 136951534 single base substitution G T downstream_gene_variant BRCA-EU 5 136951887 136951887 single base substitution G T downstream_gene_variant BRCA-EU 5 136952586 136952586 single base substitution T G downstream_gene_variant BRCA-EU 5 136952882 136952882 single base substitution G A downstream_gene_variant BRCA-EU 5 136954186 136954186 single base substitution T C 3_prime_UTR_variant BRCA-EU 5 136954186 136954186 single base substitution T C downstream_gene_variant BRCA-EU 5 136954186 136954186 single base substitution T C intron_variant BRCA-EU 5 136954583 136954584 deletion of <=200bp TA - 3_prime_UTR_variant BRCA-EU 5 136954583 136954584 deletion of <=200bp TA - downstream_gene_variant BRCA-EU 5 136954583 136954584 deletion of <=200bp TA - intron_variant BRCA-EU 5 136954740 136954740 single base substitution T C 3_prime_UTR_variant BRCA-EU 5 136954740 136954740 single base substitution T C downstream_gene_variant BRCA-EU 5 136954740 136954740 single base substitution T C intron_variant BRCA-EU 5 136958016 136958019 deletion of <=200bp ACCT - intron_variant BRCA-EU 5 136960885 136960885 single base substitution T C intron_variant BRCA-EU 5 136961195 136961195 single base substitution G A intron_variant BRCA-EU 5 136962935 136962935 insertion of <=200bp - A intron_variant BRCA-EU 5 136963588 136963588 single base substitution G C intron_variant BRCA-EU 5 136964183 136964183 single base substitution G A exon_variant BRCA-EU 5 136964183 136964183 single base substitution G A intron_variant BRCA-EU 5 136964534 136964534 single base substitution A G exon_variant BRCA-EU 5 136964534 136964534 single base substitution A G intron_variant BRCA-EU 5 136964534 136964534 single base substitution A G upstream_gene_variant BRCA-EU 5 136965798 136965798 single base substitution T A downstream_gene_variant BRCA-EU 5 136965798 136965798 single base substitution T A intron_variant BRCA-EU 5 136965798 136965798 single base substitution T A upstream_gene_variant BRCA-EU 5 136966066 136966066 single base substitution G A downstream_gene_variant BRCA-EU 5 136966066 136966066 single base substitution G A intron_variant BRCA-EU 5 136966066 136966066 single base substitution G A upstream_gene_variant BRCA-EU 5 136967453 136967453 single base substitution G T downstream_gene_variant BRCA-EU 5 136967453 136967453 single base substitution G T intron_variant BRCA-EU 5 136967453 136967453 single base substitution G T upstream_gene_variant BRCA-EU 5 136967561 136967561 single base substitution A C downstream_gene_variant BRCA-EU 5 136967561 136967561 single base substitution A C intron_variant BRCA-EU 5 136967561 136967561 single base substitution A C upstream_gene_variant BRCA-EU 5 136967660 136967660 single base substitution A G downstream_gene_variant BRCA-EU 5 136967660 136967660 single base substitution A G intron_variant BRCA-EU 5 136967660 136967660 single base substitution A G upstream_gene_variant BRCA-EU 5 136968063 136968063 single base substitution T A downstream_gene_variant BRCA-EU 5 136968063 136968063 single base substitution T A intron_variant BRCA-EU 5 136968063 136968063 single base substitution T A upstream_gene_variant BRCA-EU 5 136968678 136968678 single base substitution A T downstream_gene_variant BRCA-EU 5 136968678 136968678 single base substitution A T intron_variant BRCA-EU 5 136968678 136968678 single base substitution A T upstream_gene_variant BRCA-EU 5 136969779 136969779 single base substitution G A downstream_gene_variant BRCA-EU 5 136969779 136969779 single base substitution G A exon_variant BRCA-EU 5 136969779 136969779 single base substitution G A intron_variant BRCA-EU 5 136969779 136969779 single base substitution G A missense_variant A384V 1151C>T BRCA-EU 5 136969779 136969779 single base substitution G A missense_variant A434V 1301C>T BRCA-EU 5 136969779 136969779 single base substitution G A missense_variant A466V 1397C>T BRCA-EU 5 136969779 136969779 single base substitution G A upstream_gene_variant BRCA-EU 5 136971545 136971545 single base substitution G A downstream_gene_variant BRCA-EU 5 136971545 136971545 single base substitution G A intron_variant BRCA-EU 5 136973074 136973074 single base substitution C T intron_variant BRCA-EU 5 136973074 136973074 single base substitution C T synonymous_variant S328S 984G>A BRCA-EU 5 136973074 136973074 single base substitution C T synonymous_variant S370S 1110G>A BRCA-EU 5 136973074 136973074 single base substitution C T synonymous_variant S378S 1134G>A BRCA-EU 5 136973074 136973074 single base substitution C T synonymous_variant S410S 1230G>A BRCA-EU 5 136973517 136973517 single base substitution G C intron_variant BRCA-EU 5 136973931 136973931 single base substitution A G intron_variant BRCA-EU 5 136974330 136974330 single base substitution G A intron_variant BRCA-EU 5 136974355 136974355 single base substitution C G intron_variant BRCA-EU 5 136975306 136975306 single base substitution C T intron_variant BRCA-EU 5 136975585 136975585 single base substitution G A exon_variant BRCA-EU 5 136975585 136975585 single base substitution G A intron_variant BRCA-EU 5 136975585 136975585 single base substitution G A stop_gained Q247* 739C>T BRCA-EU 5 136975585 136975585 single base substitution G A stop_gained Q289* 865C>T BRCA-EU 5 136975585 136975585 single base substitution G A stop_gained Q297* 889C>T BRCA-EU 5 136975585 136975585 single base substitution G A stop_gained Q329* 985C>T BRCA-EU 5 136976023 136976023 single base substitution G T intron_variant BRCA-EU 5 136976172 136976172 single base substitution G T intron_variant BRCA-EU 5 136981252 136981252 deletion of <=200bp A - intron_variant BRCA-EU 5 136981906 136981906 single base substitution C A intron_variant BRCA-EU 5 136984198 136984198 single base substitution G A downstream_gene_variant BRCA-EU 5 136984198 136984198 single base substitution G A intron_variant BRCA-EU 5 136984227 136984227 single base substitution G A downstream_gene_variant BRCA-EU 5 136984227 136984227 single base substitution G A intron_variant BRCA-EU 5 136985021 136985021 single base substitution T A downstream_gene_variant BRCA-EU 5 136985021 136985021 single base substitution T A intron_variant BRCA-EU 5 136986140 136986140 single base substitution G A downstream_gene_variant BRCA-EU 5 136986140 136986140 single base substitution G A intron_variant BRCA-EU 5 136987350 136987350 single base substitution T C downstream_gene_variant BRCA-EU 5 136987350 136987350 single base substitution T C intron_variant BRCA-EU 5 136987882 136987882 single base substitution A T downstream_gene_variant BRCA-EU 5 136987882 136987882 single base substitution A T intron_variant BRCA-EU 5 136988073 136988073 single base substitution T A downstream_gene_variant BRCA-EU 5 136988073 136988073 single base substitution T A intron_variant BRCA-EU 5 136988949 136988949 single base substitution T A intron_variant BRCA-EU 5 136991263 136991263 deletion of <=200bp T - intron_variant BRCA-EU 5 136992625 136992625 single base substitution G C downstream_gene_variant BRCA-EU 5 136992625 136992625 single base substitution G C intron_variant BRCA-EU 5 136993091 136993091 single base substitution C A downstream_gene_variant BRCA-EU 5 136993091 136993091 single base substitution C A intron_variant BRCA-EU 5 136993984 136993984 single base substitution C G downstream_gene_variant BRCA-EU 5 136993984 136993984 single base substitution C G intron_variant BRCA-EU 5 136994079 136994079 single base substitution C A downstream_gene_variant BRCA-EU 5 136994079 136994079 single base substitution C A intron_variant BRCA-EU 5 136994471 136994471 single base substitution G C downstream_gene_variant BRCA-EU 5 136994471 136994471 single base substitution G C intron_variant BRCA-EU 5 136997139 136997139 single base substitution T G exon_variant BRCA-EU 5 136997139 136997139 single base substitution T G intron_variant BRCA-EU 5 137000114 137000114 deletion of <=200bp A - intron_variant BRCA-EU 5 137000515 137000515 deletion of <=200bp T - intron_variant BRCA-EU 5 137002417 137002417 single base substitution G A intron_variant BRCA-EU 5 137002845 137002845 single base substitution A C downstream_gene_variant BRCA-EU 5 137002845 137002845 single base substitution A C intron_variant BRCA-EU 5 137003766 137003766 single base substitution T C downstream_gene_variant BRCA-EU 5 137003766 137003766 single base substitution T C intron_variant BRCA-EU 5 137004112 137004112 insertion of <=200bp - A downstream_gene_variant BRCA-EU 5 137004112 137004112 insertion of <=200bp - A intron_variant BRCA-EU 5 137005494 137005494 single base substitution C T downstream_gene_variant BRCA-EU 5 137005494 137005494 single base substitution C T intron_variant BRCA-EU 5 137005717 137005717 single base substitution T A downstream_gene_variant BRCA-EU 5 137005717 137005717 single base substitution T A intron_variant BRCA-EU 5 137008327 137008327 single base substitution G T downstream_gene_variant BRCA-EU 5 137008327 137008327 single base substitution G T intron_variant BRCA-EU 5 137009273 137009273 single base substitution A G downstream_gene_variant BRCA-EU 5 137009273 137009273 single base substitution A G intron_variant BRCA-EU 5 137009273 137009273 single base substitution A G upstream_gene_variant BRCA-EU 5 137009437 137009437 single base substitution G C downstream_gene_variant BRCA-EU 5 137009437 137009437 single base substitution G C exon_variant BRCA-EU 5 137009437 137009437 single base substitution G C intron_variant BRCA-EU 5 137009437 137009437 single base substitution G C upstream_gene_variant BRCA-EU 5 137013448 137013448 single base substitution A G intron_variant BRCA-EU 5 137013448 137013448 single base substitution A G upstream_gene_variant BRCA-EU 5 137014402 137014402 single base substitution G C intron_variant BRCA-EU 5 137014402 137014402 single base substitution G C upstream_gene_variant BRCA-EU 5 137014785 137014785 deletion of <=200bp T - intron_variant BRCA-EU 5 137016719 137016719 single base substitution C T intron_variant BRCA-EU 5 137017003 137017003 single base substitution G T intron_variant BRCA-EU 5 137019333 137019333 single base substitution T A intron_variant BRCA-EU 5 137019880 137019880 single base substitution T A intron_variant BRCA-EU 5 137020550 137020550 single base substitution C T intron_variant BRCA-EU 5 137021729 137021729 single base substitution G T intron_variant BRCA-EU 5 137022064 137022064 single base substitution A T intron_variant BRCA-EU 5 137025067 137025067 single base substitution C T intron_variant BRCA-EU 5 137025935 137025935 single base substitution G C intron_variant BRCA-EU 5 137026767 137026767 single base substitution C T intron_variant BRCA-EU 5 137026818 137026818 single base substitution C G intron_variant BRCA-EU 5 137028053 137028053 single base substitution G A exon_variant BRCA-EU 5 137028053 137028053 single base substitution G A missense_variant P31L 92C>T BRCA-EU 5 137028053 137028053 single base substitution G A synonymous_variant P109P 327C>T BRCA-EU 5 137028053 137028053 single base substitution G A synonymous_variant P117P 351C>T BRCA-EU 5 137028053 137028053 single base substitution G A synonymous_variant P149P 447C>T BRCA-EU 5 137028053 137028053 single base substitution G A synonymous_variant P67P 201C>T BRCA-EU 5 137029035 137029049 deletion of <=200bp ATCCTGAAAGACAGA - intron_variant BRCA-EU 5 137029035 137029049 deletion of <=200bp ATCCTGAAAGACAGA - upstream_gene_variant BRCA-EU 5 137029394 137029394 single base substitution C G intron_variant BRCA-EU 5 137029394 137029394 single base substitution C G upstream_gene_variant BRCA-EU 5 137030232 137030232 single base substitution T C intron_variant BRCA-EU 5 137030232 137030232 single base substitution T C upstream_gene_variant BRCA-EU 5 137031449 137031449 single base substitution G T intron_variant BRCA-EU 5 137031449 137031449 single base substitution G T upstream_gene_variant BRCA-EU 5 137031636 137031636 single base substitution C T intron_variant BRCA-EU 5 137031636 137031636 single base substitution C T upstream_gene_variant BRCA-EU 5 137031890 137031890 single base substitution G A intron_variant BRCA-EU 5 137031890 137031890 single base substitution G A upstream_gene_variant BRCA-EU 5 137033619 137033619 single base substitution C G intron_variant BRCA-EU 5 137037150 137037150 single base substitution T C downstream_gene_variant BRCA-EU 5 137037150 137037150 single base substitution T C intron_variant BRCA-EU 5 137037150 137037150 single base substitution T C upstream_gene_variant BRCA-EU 5 137037448 137037448 single base substitution G A downstream_gene_variant BRCA-EU 5 137037448 137037448 single base substitution G A intron_variant BRCA-EU 5 137037448 137037448 single base substitution G A upstream_gene_variant BRCA-EU 5 137039428 137039428 single base substitution A T downstream_gene_variant BRCA-EU 5 137039428 137039428 single base substitution A T intron_variant BRCA-EU 5 137039493 137039493 single base substitution C T downstream_gene_variant BRCA-EU 5 137039493 137039493 single base substitution C T intron_variant BRCA-EU 5 137039577 137039577 single base substitution A T downstream_gene_variant BRCA-EU 5 137039577 137039577 single base substitution A T intron_variant BRCA-EU 5 137040080 137040080 single base substitution C G downstream_gene_variant BRCA-EU 5 137040080 137040080 single base substitution C G intron_variant BRCA-EU 5 137040180 137040180 single base substitution G C downstream_gene_variant BRCA-EU 5 137040180 137040180 single base substitution G C intron_variant BRCA-EU 5 137047182 137047182 single base substitution G T intron_variant BRCA-EU 5 137047670 137047670 single base substitution C A intron_variant BRCA-EU 5 137049517 137049517 single base substitution C A intron_variant BRCA-EU 5 137049630 137049630 single base substitution T A intron_variant BRCA-EU 5 137050572 137050572 deletion of <=200bp A - intron_variant BRCA-EU 5 137050572 137050572 insertion of <=200bp - A intron_variant BRCA-EU 5 137051303 137051303 single base substitution C A intron_variant BRCA-EU 5 137051304 137051304 single base substitution C G intron_variant BRCA-EU 5 137052493 137052493 single base substitution A C intron_variant BRCA-EU 5 137054610 137054610 single base substitution A G intron_variant BRCA-EU 5 137054646 137054646 single base substitution T G intron_variant BRCA-EU 5 137055086 137055086 single base substitution G C intron_variant BRCA-EU 5 137055228 137055228 single base substitution A C intron_variant BRCA-EU 5 137055861 137055861 single base substitution C T intron_variant BRCA-EU 5 137057199 137057199 single base substitution C T intron_variant BRCA-EU 5 137057199 137057199 single base substitution C T upstream_gene_variant BRCA-EU 5 137057347 137057347 single base substitution G A intron_variant BRCA-EU 5 137057347 137057347 single base substitution G A upstream_gene_variant BRCA-EU 5 137059090 137059090 single base substitution C G intron_variant BRCA-EU 5 137059090 137059090 single base substitution C G upstream_gene_variant BRCA-EU 5 137060915 137060915 single base substitution A T intron_variant BRCA-EU 5 137060915 137060915 single base substitution A T upstream_gene_variant BRCA-EU 5 137060943 137060943 single base substitution C G intron_variant BRCA-EU 5 137060943 137060943 single base substitution C G upstream_gene_variant BRCA-EU 5 137062903 137062903 single base substitution G C intron_variant BRCA-EU 5 137062955 137062955 single base substitution G A intron_variant BRCA-EU 5 137063329 137063329 single base substitution G A intron_variant BRCA-EU 5 137064225 137064227 deletion of <=200bp AGG - intron_variant BRCA-EU 5 137068329 137068329 insertion of <=200bp - A intron_variant BRCA-EU 5 137069019 137069019 single base substitution T A intron_variant BRCA-EU 5 137069728 137069728 single base substitution G C intron_variant BRCA-EU 5 137070071 137070071 single base substitution T A intron_variant BRCA-EU 5 137070255 137070255 single base substitution G T intron_variant BRCA-EU 5 137071910 137071910 single base substitution C G upstream_gene_variant BRCA-EU 5 137072386 137072386 single base substitution C A upstream_gene_variant BRCA-EU 5 137076293 137076293 single base substitution A T upstream_gene_variant BRCA-FR 5 136961195 136961195 single base substitution G A intron_variant BRCA-FR 5 136971545 136971545 single base substitution G A downstream_gene_variant BRCA-FR 5 136971545 136971545 single base substitution G A intron_variant BRCA-FR 5 136976172 136976172 single base substitution G T intron_variant BRCA-FR 5 136985433 136985433 single base substitution G C downstream_gene_variant BRCA-FR 5 136985433 136985433 single base substitution G C intron_variant BRCA-FR 5 136987350 136987350 single base substitution T C downstream_gene_variant BRCA-FR 5 136987350 136987350 single base substitution T C intron_variant BRCA-FR 5 136987882 136987882 single base substitution A T downstream_gene_variant BRCA-FR 5 136987882 136987882 single base substitution A T intron_variant BRCA-FR 5 136993091 136993091 single base substitution C A downstream_gene_variant BRCA-FR 5 136993091 136993091 single base substitution C A intron_variant BRCA-FR 5 136994079 136994079 single base substitution C A downstream_gene_variant BRCA-FR 5 136994079 136994079 single base substitution C A intron_variant BRCA-FR 5 137002845 137002845 single base substitution A C downstream_gene_variant BRCA-FR 5 137002845 137002845 single base substitution A C intron_variant BRCA-FR 5 137009437 137009437 single base substitution G C downstream_gene_variant BRCA-FR 5 137009437 137009437 single base substitution G C exon_variant BRCA-FR 5 137009437 137009437 single base substitution G C intron_variant BRCA-FR 5 137009437 137009437 single base substitution G C upstream_gene_variant BRCA-FR 5 137019880 137019880 single base substitution T A intron_variant BRCA-FR 5 137025935 137025935 single base substitution G C intron_variant BRCA-FR 5 137028053 137028053 single base substitution G A exon_variant BRCA-FR 5 137028053 137028053 single base substitution G A missense_variant P31L 92C>T BRCA-FR 5 137028053 137028053 single base substitution G A synonymous_variant P109P 327C>T BRCA-FR 5 137028053 137028053 single base substitution G A synonymous_variant P117P 351C>T BRCA-FR 5 137028053 137028053 single base substitution G A synonymous_variant P149P 447C>T BRCA-FR 5 137028053 137028053 single base substitution G A synonymous_variant P67P 201C>T BRCA-FR 5 137028428 137028428 single base substitution G C intron_variant BRCA-FR 5 137028428 137028428 single base substitution G C upstream_gene_variant BRCA-FR 5 137033619 137033619 single base substitution C G intron_variant BRCA-FR 5 137054646 137054646 single base substitution T G intron_variant BRCA-FR 5 137059090 137059090 single base substitution C G intron_variant BRCA-FR 5 137059090 137059090 single base substitution C G upstream_gene_variant BRCA-FR 5 137070071 137070071 single base substitution T A intron_variant BRCA-FR 5 137070255 137070255 single base substitution G T intron_variant BRCA-UK 5 136966658 136966658 single base substitution C G downstream_gene_variant BRCA-UK 5 136966658 136966658 single base substitution C G intron_variant BRCA-UK 5 136966658 136966658 single base substitution C G upstream_gene_variant BRCA-UK 5 136984227 136984227 single base substitution G A downstream_gene_variant BRCA-UK 5 136984227 136984227 single base substitution G A intron_variant BRCA-UK 5 137047182 137047182 single base substitution G T intron_variant BRCA-UK 5 137047670 137047670 single base substitution C A intron_variant BRCA-US 5 136969761 136969762 deletion of <=200bp TA - downstream_gene_variant BRCA-US 5 136969761 136969762 deletion of <=200bp TA - exon_variant BRCA-US 5 136969761 136969762 deletion of <=200bp TA - frameshift_variant Y390 BRCA-US 5 136969761 136969762 deletion of <=200bp TA - frameshift_variant Y440 BRCA-US 5 136969761 136969762 deletion of <=200bp TA - frameshift_variant Y472 BRCA-US 5 136969761 136969762 deletion of <=200bp TA - intron_variant BRCA-US 5 136969761 136969762 deletion of <=200bp TA - upstream_gene_variant BRCA-US 5 137027977 137027977 single base substitution C T exon_variant BRCA-US 5 137027977 137027977 single base substitution C T missense_variant A135T 403G>A BRCA-US 5 137027977 137027977 single base substitution C T missense_variant A143T 427G>A BRCA-US 5 137027977 137027977 single base substitution C T missense_variant A175T 523G>A BRCA-US 5 137027977 137027977 single base substitution C T missense_variant A93T 277G>A BRCA-US 5 137027977 137027977 single base substitution C T synonymous_variant T56T 168G>A BRCA-US 5 137071327 137071327 single base substitution A C exon_variant BRCA-US 5 137071327 137071327 single base substitution A C synonymous_variant G3G 9T>G BTCA-JP 5 136974879 136974879 single base substitution C T intron_variant BTCA-JP 5 137013288 137013288 single base substitution G A 3_prime_UTR_variant BTCA-JP 5 137013288 137013288 single base substitution G A exon_variant BTCA-JP 5 137013288 137013288 single base substitution G A synonymous_variant D112D 336C>T BTCA-JP 5 137013288 137013288 single base substitution G A synonymous_variant D154D 462C>T BTCA-JP 5 137013288 137013288 single base substitution G A synonymous_variant D162D 486C>T BTCA-JP 5 137013288 137013288 single base substitution G A synonymous_variant D194D 582C>T BTCA-JP 5 137013288 137013288 single base substitution G A synonymous_variant D74D 222C>T BTCA-JP 5 137013288 137013288 single base substitution G A upstream_gene_variant BTCA-JP 5 137045419 137045419 single base substitution A T intron_variant BTCA-JP 5 137045419 137045419 single base substitution A T upstream_gene_variant CESC-US 5 136964039 136964039 single base substitution C T 3_prime_UTR_variant CESC-US 5 136964039 136964039 single base substitution C T exon_variant CESC-US 5 136964039 136964039 single base substitution C T missense_variant G431E 1292G>A CESC-US 5 136964039 136964039 single base substitution C T missense_variant G481E 1442G>A CESC-US 5 136964039 136964039 single base substitution C T missense_variant G513E 1538G>A CESC-US 5 136997701 136997701 single base substitution G C 3_prime_UTR_variant CESC-US 5 136997701 136997701 single base substitution G C exon_variant CESC-US 5 136997701 136997701 single base substitution G C stop_gained S137* 410C>G CESC-US 5 136997701 136997701 single base substitution G C stop_gained S179* 536C>G CESC-US 5 136997701 136997701 single base substitution G C stop_gained S187* 560C>G CESC-US 5 136997701 136997701 single base substitution G C stop_gained S219* 656C>G CESC-US 5 136997701 136997701 single base substitution G C stop_gained S99* 296C>G CLLE-ES 5 136993692 136993692 insertion of <=200bp - CTC downstream_gene_variant CLLE-ES 5 136993692 136993692 insertion of <=200bp - CTC intron_variant CLLE-ES 5 137013510 137013510 single base substitution T A intron_variant CLLE-ES 5 137013510 137013510 single base substitution T A upstream_gene_variant CLLE-ES 5 137016905 137016908 deletion of <=200bp AAAG - intron_variant CLLE-ES 5 137026701 137026701 single base substitution G A intron_variant CLLE-ES 5 137027982 137027982 single base substitution G A exon_variant CLLE-ES 5 137027982 137027982 single base substitution G A missense_variant A133V 398C>T CLLE-ES 5 137027982 137027982 single base substitution G A missense_variant A141V 422C>T CLLE-ES 5 137027982 137027982 single base substitution G A missense_variant A173V 518C>T CLLE-ES 5 137027982 137027982 single base substitution G A missense_variant A91V 272C>T CLLE-ES 5 137027982 137027982 single base substitution G A missense_variant P55S 163C>T CLLE-ES 5 137074172 137074172 single base substitution G A upstream_gene_variant COAD-US 5 136964097 136964097 single base substitution C T 3_prime_UTR_variant COAD-US 5 136964097 136964097 single base substitution C T exon_variant COAD-US 5 136964097 136964097 single base substitution C T missense_variant A412T 1234G>A COAD-US 5 136964097 136964097 single base substitution C T missense_variant A462T 1384G>A COAD-US 5 136964097 136964097 single base substitution C T missense_variant A494T 1480G>A COAD-US 5 136964097 136964097 single base substitution C T synonymous_variant T191T 573G>A COAD-US 5 136964100 136964100 single base substitution A G 3_prime_UTR_variant COAD-US 5 136964100 136964100 single base substitution A G exon_variant COAD-US 5 136964100 136964100 single base substitution A G missense_variant Y411H 1231T>C COAD-US 5 136964100 136964100 single base substitution A G missense_variant Y461H 1381T>C COAD-US 5 136964100 136964100 single base substitution A G missense_variant Y493H 1477T>C COAD-US 5 136964100 136964100 single base substitution A G synonymous_variant C190C 570T>C COAD-US 5 136969741 136969741 single base substitution G A downstream_gene_variant COAD-US 5 136969741 136969741 single base substitution G A exon_variant COAD-US 5 136969741 136969741 single base substitution G A intron_variant COAD-US 5 136969741 136969741 single base substitution G A missense_variant R397C 1189C>T COAD-US 5 136969741 136969741 single base substitution G A missense_variant R447C 1339C>T COAD-US 5 136969741 136969741 single base substitution G A missense_variant R479C 1435C>T COAD-US 5 136969741 136969741 single base substitution G A upstream_gene_variant COAD-US 5 136997639 136997639 single base substitution G A 3_prime_UTR_variant COAD-US 5 136997639 136997639 single base substitution G A exon_variant COAD-US 5 136997639 136997639 single base substitution G A stop_gained R120* 358C>T COAD-US 5 136997639 136997639 single base substitution G A stop_gained R158* 472C>T COAD-US 5 136997639 136997639 single base substitution G A stop_gained R200* 598C>T COAD-US 5 136997639 136997639 single base substitution G A stop_gained R208* 622C>T COAD-US 5 136997639 136997639 single base substitution G A stop_gained R240* 718C>T COAD-US 5 137028029 137028029 single base substitution T C exon_variant COAD-US 5 137028029 137028029 single base substitution T C missense_variant H39R 116A>G COAD-US 5 137028029 137028029 single base substitution T C synonymous_variant A117A 351A>G COAD-US 5 137028029 137028029 single base substitution T C synonymous_variant A125A 375A>G COAD-US 5 137028029 137028029 single base substitution T C synonymous_variant A157A 471A>G COAD-US 5 137028029 137028029 single base substitution T C synonymous_variant A75A 225A>G COAD-US 5 137028043 137028043 single base substitution G T exon_variant COAD-US 5 137028043 137028043 single base substitution G T missense_variant L113M 337C>A COAD-US 5 137028043 137028043 single base substitution G T missense_variant L121M 361C>A COAD-US 5 137028043 137028043 single base substitution G T missense_variant L153M 457C>A COAD-US 5 137028043 137028043 single base substitution G T missense_variant L71M 211C>A COAD-US 5 137028043 137028043 single base substitution G T synonymous_variant A34A 102C>A COCA-CN 5 136958062 136958062 single base substitution C A intron_variant COCA-CN 5 136974538 136974538 single base substitution C T intron_variant COCA-CN 5 136974731 136974731 single base substitution A G exon_variant COCA-CN 5 136974731 136974731 single base substitution A G intron_variant COCA-CN 5 136974731 136974731 single base substitution A G missense_variant I295T 884T>C COCA-CN 5 136974731 136974731 single base substitution A G missense_variant I337T 1010T>C COCA-CN 5 136974731 136974731 single base substitution A G missense_variant I345T 1034T>C COCA-CN 5 136974731 136974731 single base substitution A G missense_variant I377T 1130T>C COCA-CN 5 136975121 136975121 single base substitution C T intron_variant COCA-CN 5 136995392 136995392 single base substitution T C downstream_gene_variant COCA-CN 5 136995392 136995392 single base substitution T C intron_variant COCA-CN 5 136997681 136997681 single base substitution C A 3_prime_UTR_variant COCA-CN 5 136997681 136997681 single base substitution C A exon_variant COCA-CN 5 136997681 136997681 single base substitution C A stop_gained E106* 316G>T COCA-CN 5 136997681 136997681 single base substitution C A stop_gained E144* 430G>T COCA-CN 5 136997681 136997681 single base substitution C A stop_gained E186* 556G>T COCA-CN 5 136997681 136997681 single base substitution C A stop_gained E194* 580G>T COCA-CN 5 136997681 136997681 single base substitution C A stop_gained E226* 676G>T COCA-CN 5 136997779 136997779 single base substitution C T intron_variant COCA-CN 5 136997801 136997801 single base substitution A G intron_variant COCA-CN 5 136999744 136999744 single base substitution T A intron_variant COCA-CN 5 136999745 136999745 single base substitution A T intron_variant COCA-CN 5 137037949 137037949 single base substitution C A downstream_gene_variant COCA-CN 5 137037949 137037949 single base substitution C A intron_variant COCA-CN 5 137037949 137037949 single base substitution C A upstream_gene_variant COCA-CN 5 137067223 137067223 single base substitution G A intron_variant ESAD-UK 5 136948808 136948808 single base substitution A T downstream_gene_variant ESAD-UK 5 136949058 136949058 single base substitution T A downstream_gene_variant ESAD-UK 5 136949196 136949196 single base substitution C A downstream_gene_variant ESAD-UK 5 136949401 136949401 single base substitution A G downstream_gene_variant ESAD-UK 5 136949709 136949709 single base substitution G A downstream_gene_variant ESAD-UK 5 136951195 136951195 single base substitution G T downstream_gene_variant ESAD-UK 5 136951598 136951598 single base substitution G C downstream_gene_variant ESAD-UK 5 136952047 136952055 deletion of <=200bp GCAGAGCGC - downstream_gene_variant ESAD-UK 5 136952553 136952553 single base substitution C A downstream_gene_variant ESAD-UK 5 136955996 136955996 single base substitution G A 3_prime_UTR_variant ESAD-UK 5 136955996 136955996 single base substitution G A downstream_gene_variant ESAD-UK 5 136955996 136955996 single base substitution G A intron_variant ESAD-UK 5 136956848 136956848 single base substitution A G 3_prime_UTR_variant ESAD-UK 5 136956848 136956848 single base substitution A G downstream_gene_variant ESAD-UK 5 136956848 136956848 single base substitution A G intron_variant ESAD-UK 5 136958441 136958441 single base substitution G A intron_variant ESAD-UK 5 136960840 136960840 single base substitution C T intron_variant ESAD-UK 5 136962934 136962934 single base substitution T A intron_variant ESAD-UK 5 136963109 136963109 single base substitution A C intron_variant ESAD-UK 5 136965415 136965415 single base substitution A C downstream_gene_variant ESAD-UK 5 136965415 136965415 single base substitution A C exon_variant ESAD-UK 5 136965415 136965415 single base substitution A C intron_variant ESAD-UK 5 136965415 136965415 single base substitution A C upstream_gene_variant ESAD-UK 5 136967159 136967159 single base substitution C T downstream_gene_variant ESAD-UK 5 136967159 136967159 single base substitution C T intron_variant ESAD-UK 5 136967159 136967159 single base substitution C T upstream_gene_variant ESAD-UK 5 136968401 136968401 single base substitution C A downstream_gene_variant ESAD-UK 5 136968401 136968401 single base substitution C A intron_variant ESAD-UK 5 136968401 136968401 single base substitution C A upstream_gene_variant ESAD-UK 5 136971076 136971076 single base substitution G A downstream_gene_variant ESAD-UK 5 136971076 136971076 single base substitution G A intron_variant ESAD-UK 5 136971394 136971394 single base substitution T C downstream_gene_variant ESAD-UK 5 136971394 136971394 single base substitution T C intron_variant ESAD-UK 5 136971424 136971424 single base substitution G T downstream_gene_variant ESAD-UK 5 136971424 136971424 single base substitution G T intron_variant ESAD-UK 5 136973464 136973464 single base substitution G A intron_variant ESAD-UK 5 136976010 136976010 single base substitution T C intron_variant ESAD-UK 5 136976144 136976144 single base substitution A C intron_variant ESAD-UK 5 136976377 136976377 single base substitution C T intron_variant ESAD-UK 5 136978077 136978077 single base substitution C T intron_variant ESAD-UK 5 136983189 136983189 single base substitution T A intron_variant ESAD-UK 5 136983334 136983334 single base substitution G C intron_variant ESAD-UK 5 136988014 136988014 single base substitution A G downstream_gene_variant ESAD-UK 5 136988014 136988014 single base substitution A G intron_variant ESAD-UK 5 136988913 136988913 single base substitution T G intron_variant ESAD-UK 5 136994603 136994603 single base substitution G T downstream_gene_variant ESAD-UK 5 136994603 136994603 single base substitution G T intron_variant ESAD-UK 5 136995286 136995286 single base substitution A G downstream_gene_variant ESAD-UK 5 136995286 136995286 single base substitution A G intron_variant ESAD-UK 5 136996040 136996040 single base substitution G T downstream_gene_variant ESAD-UK 5 136996040 136996040 single base substitution G T intron_variant ESAD-UK 5 136999744 136999744 single base substitution T A intron_variant ESAD-UK 5 136999746 136999746 single base substitution A T intron_variant ESAD-UK 5 137001673 137001673 single base substitution C T intron_variant ESAD-UK 5 137003672 137003673 deletion of <=200bp GA - downstream_gene_variant ESAD-UK 5 137003672 137003673 deletion of <=200bp GA - intron_variant ESAD-UK 5 137003916 137003916 single base substitution C T downstream_gene_variant ESAD-UK 5 137003916 137003916 single base substitution C T intron_variant ESAD-UK 5 137004112 137004112 insertion of <=200bp - A downstream_gene_variant ESAD-UK 5 137004112 137004112 insertion of <=200bp - A intron_variant ESAD-UK 5 137007176 137007176 single base substitution C T downstream_gene_variant ESAD-UK 5 137007176 137007176 single base substitution C T intron_variant ESAD-UK 5 137009851 137009851 single base substitution G A downstream_gene_variant ESAD-UK 5 137009851 137009851 single base substitution G A intron_variant ESAD-UK 5 137009851 137009851 single base substitution G A upstream_gene_variant ESAD-UK 5 137010989 137010989 insertion of <=200bp - A downstream_gene_variant ESAD-UK 5 137010989 137010989 insertion of <=200bp - A intron_variant ESAD-UK 5 137010989 137010989 insertion of <=200bp - A upstream_gene_variant ESAD-UK 5 137012486 137012486 single base substitution C G downstream_gene_variant ESAD-UK 5 137012486 137012486 single base substitution C G intron_variant ESAD-UK 5 137012486 137012486 single base substitution C G upstream_gene_variant ESAD-UK 5 137012557 137012557 single base substitution G A downstream_gene_variant ESAD-UK 5 137012557 137012557 single base substitution G A intron_variant ESAD-UK 5 137012557 137012557 single base substitution G A upstream_gene_variant ESAD-UK 5 137012967 137012967 single base substitution C G downstream_gene_variant ESAD-UK 5 137012967 137012967 single base substitution C G intron_variant ESAD-UK 5 137012967 137012967 single base substitution C G upstream_gene_variant ESAD-UK 5 137013868 137013868 single base substitution T A intron_variant ESAD-UK 5 137013868 137013868 single base substitution T A upstream_gene_variant ESAD-UK 5 137014042 137014042 single base substitution A G intron_variant ESAD-UK 5 137014042 137014042 single base substitution A G upstream_gene_variant ESAD-UK 5 137016304 137016304 single base substitution T G intron_variant ESAD-UK 5 137018657 137018657 single base substitution A G intron_variant ESAD-UK 5 137024819 137024819 single base substitution G A intron_variant ESAD-UK 5 137026954 137026954 insertion of <=200bp - A intron_variant ESAD-UK 5 137038864 137038864 single base substitution A C downstream_gene_variant ESAD-UK 5 137038864 137038864 single base substitution A C intron_variant ESAD-UK 5 137038864 137038864 single base substitution A C upstream_gene_variant ESAD-UK 5 137039411 137039411 single base substitution C T downstream_gene_variant ESAD-UK 5 137039411 137039411 single base substitution C T intron_variant ESAD-UK 5 137042131 137042131 single base substitution A G intron_variant ESAD-UK 5 137042131 137042131 single base substitution A G upstream_gene_variant ESAD-UK 5 137043851 137043851 single base substitution G A intron_variant ESAD-UK 5 137043851 137043851 single base substitution G A upstream_gene_variant ESAD-UK 5 137045309 137045309 single base substitution C T intron_variant ESAD-UK 5 137045309 137045309 single base substitution C T upstream_gene_variant ESAD-UK 5 137045502 137045502 single base substitution C T exon_variant ESAD-UK 5 137045502 137045502 single base substitution C T missense_variant E20K 58G>A ESAD-UK 5 137045502 137045502 single base substitution C T missense_variant E28K 82G>A ESAD-UK 5 137045502 137045502 single base substitution C T missense_variant E60K 178G>A ESAD-UK 5 137045502 137045502 single base substitution C T upstream_gene_variant ESAD-UK 5 137047750 137047750 single base substitution G A intron_variant ESAD-UK 5 137048623 137048623 single base substitution A T intron_variant ESAD-UK 5 137051720 137051720 insertion of <=200bp - A intron_variant ESAD-UK 5 137052064 137052067 deletion of <=200bp TTCA - intron_variant ESAD-UK 5 137052682 137052682 single base substitution C A intron_variant ESAD-UK 5 137055249 137055249 single base substitution C T intron_variant ESAD-UK 5 137057666 137057666 single base substitution G C intron_variant ESAD-UK 5 137057666 137057666 single base substitution G C upstream_gene_variant ESAD-UK 5 137059033 137059033 single base substitution A G intron_variant ESAD-UK 5 137059033 137059033 single base substitution A G upstream_gene_variant ESAD-UK 5 137062162 137062162 single base substitution G C intron_variant ESAD-UK 5 137062864 137062864 single base substitution C T intron_variant ESAD-UK 5 137065708 137065708 single base substitution A C intron_variant ESAD-UK 5 137070482 137070482 single base substitution G C intron_variant ESAD-UK 5 137072619 137072619 single base substitution A G upstream_gene_variant ESAD-UK 5 137074255 137074255 single base substitution C T upstream_gene_variant ESAD-UK 5 137074506 137074506 single base substitution G T upstream_gene_variant ESCA-CN 5 136964098 136964098 single base substitution G A 3_prime_UTR_variant ESCA-CN 5 136964098 136964098 single base substitution G A exon_variant ESCA-CN 5 136964098 136964098 single base substitution G A missense_variant T191M 572C>T ESCA-CN 5 136964098 136964098 single base substitution G A synonymous_variant Y411Y 1233C>T ESCA-CN 5 136964098 136964098 single base substitution G A synonymous_variant Y461Y 1383C>T ESCA-CN 5 136964098 136964098 single base substitution G A synonymous_variant Y493Y 1479C>T ESCA-CN 5 137045527 137045527 single base substitution G A exon_variant ESCA-CN 5 137045527 137045527 single base substitution G A synonymous_variant D11D 33C>T ESCA-CN 5 137045527 137045527 single base substitution G A synonymous_variant D19D 57C>T ESCA-CN 5 137045527 137045527 single base substitution G A synonymous_variant D51D 153C>T ESCA-CN 5 137045527 137045527 single base substitution G A upstream_gene_variant GBM-US 5 137045486 137045486 single base substitution C T exon_variant GBM-US 5 137045486 137045486 single base substitution C T missense_variant R25H 74G>A GBM-US 5 137045486 137045486 single base substitution C T missense_variant R33H 98G>A GBM-US 5 137045486 137045486 single base substitution C T missense_variant R65H 194G>A GBM-US 5 137045486 137045486 single base substitution C T upstream_gene_variant KIRC-US 5 136963990 136963990 single base substitution G A 3_prime_UTR_variant KIRC-US 5 136963990 136963990 single base substitution G A exon_variant KIRC-US 5 136963990 136963990 single base substitution G A synonymous_variant N447N 1341C>T KIRC-US 5 136963990 136963990 single base substitution G A synonymous_variant N497N 1491C>T KIRC-US 5 136963990 136963990 single base substitution G A synonymous_variant N529N 1587C>T KIRC-US 5 136974757 136974757 single base substitution G A exon_variant KIRC-US 5 136974757 136974757 single base substitution G A intron_variant KIRC-US 5 136974757 136974757 single base substitution G A synonymous_variant D286D 858C>T KIRC-US 5 136974757 136974757 single base substitution G A synonymous_variant D328D 984C>T KIRC-US 5 136974757 136974757 single base substitution G A synonymous_variant D336D 1008C>T KIRC-US 5 136974757 136974757 single base substitution G A synonymous_variant D368D 1104C>T KIRP-US 5 136963990 136963990 single base substitution G A 3_prime_UTR_variant KIRP-US 5 136963990 136963990 single base substitution G A exon_variant KIRP-US 5 136963990 136963990 single base substitution G A synonymous_variant N447N 1341C>T KIRP-US 5 136963990 136963990 single base substitution G A synonymous_variant N497N 1491C>T KIRP-US 5 136963990 136963990 single base substitution G A synonymous_variant N529N 1587C>T KIRP-US 5 136975648 136975648 single base substitution C T exon_variant KIRP-US 5 136975648 136975648 single base substitution C T intron_variant KIRP-US 5 136975648 136975648 single base substitution C T missense_variant G226S 676G>A KIRP-US 5 136975648 136975648 single base substitution C T missense_variant G268S 802G>A KIRP-US 5 136975648 136975648 single base substitution C T missense_variant G276S 826G>A KIRP-US 5 136975648 136975648 single base substitution C T missense_variant G308S 922G>A LAML-KR 5 136992170 136992170 single base substitution G A downstream_gene_variant LAML-KR 5 136992170 136992170 single base substitution G A intron_variant LAML-KR 5 137022758 137022758 single base substitution T G intron_variant LAML-KR 5 137022780 137022780 single base substitution C T intron_variant LAML-KR 5 137022836 137022836 single base substitution C T intron_variant LAML-KR 5 137023265 137023265 single base substitution A G intron_variant LGG-US 5 136993906 136993906 single base substitution T C 3_prime_UTR_variant LGG-US 5 136993906 136993906 single base substitution T C downstream_gene_variant LGG-US 5 136993906 136993906 single base substitution T C exon_variant LGG-US 5 136993906 136993906 single base substitution T C missense_variant M153V 457A>G LGG-US 5 136993906 136993906 single base substitution T C missense_variant M191V 571A>G LGG-US 5 136993906 136993906 single base substitution T C missense_variant M233V 697A>G LGG-US 5 136993906 136993906 single base substitution T C missense_variant M241V 721A>G LGG-US 5 136993906 136993906 single base substitution T C missense_variant M273V 817A>G LICA-FR 5 136955720 136955720 single base substitution T A 3_prime_UTR_variant LICA-FR 5 136955720 136955720 single base substitution T A downstream_gene_variant LICA-FR 5 136955720 136955720 single base substitution T A intron_variant LICA-FR 5 136978883 136978883 single base substitution T C intron_variant LICA-FR 5 136986511 136986511 deletion of <=200bp A - downstream_gene_variant LICA-FR 5 136986511 136986511 deletion of <=200bp A - intron_variant LICA-FR 5 136986887 136986887 single base substitution C A downstream_gene_variant LICA-FR 5 136986887 136986887 single base substitution C A intron_variant LICA-FR 5 136988697 136988697 single base substitution T G 3_prime_UTR_variant LICA-FR 5 136988697 136988697 single base substitution T G intron_variant LICA-FR 5 136988776 136988776 deletion of <=200bp A - intron_variant LICA-FR 5 136990809 136990809 single base substitution T C intron_variant LICA-FR 5 137012868 137012868 single base substitution G A downstream_gene_variant LICA-FR 5 137012868 137012868 single base substitution G A intron_variant LICA-FR 5 137012868 137012868 single base substitution G A upstream_gene_variant LICA-FR 5 137018617 137018617 single base substitution C G intron_variant LICA-FR 5 137028004 137028004 single base substitution C T exon_variant LICA-FR 5 137028004 137028004 single base substitution C T missense_variant D126N 376G>A LICA-FR 5 137028004 137028004 single base substitution C T missense_variant D134N 400G>A LICA-FR 5 137028004 137028004 single base substitution C T missense_variant D166N 496G>A LICA-FR 5 137028004 137028004 single base substitution C T missense_variant D84N 250G>A LICA-FR 5 137028004 137028004 single base substitution C T synonymous_variant L47L 141G>A LICA-FR 5 137044948 137044948 single base substitution G C intron_variant LICA-FR 5 137044948 137044948 single base substitution G C upstream_gene_variant LICA-FR 5 137045464 137045464 single base substitution G A exon_variant LICA-FR 5 137045464 137045464 single base substitution G A synonymous_variant S32S 96C>T LICA-FR 5 137045464 137045464 single base substitution G A synonymous_variant S40S 120C>T LICA-FR 5 137045464 137045464 single base substitution G A synonymous_variant S72S 216C>T LICA-FR 5 137045464 137045464 single base substitution G A upstream_gene_variant LICA-FR 5 137054861 137054861 single base substitution T G intron_variant LICA-FR 5 137075177 137075177 single base substitution A T upstream_gene_variant LIHC-US 5 136963985 136963985 single base substitution C A exon_variant LIHC-US 5 136963985 136963985 single base substitution C A splice_donor_variant LINC-JP 5 136957971 136957971 single base substitution T C intron_variant LINC-JP 5 136963993 136963993 single base substitution G A 3_prime_UTR_variant LINC-JP 5 136963993 136963993 single base substitution G A exon_variant LINC-JP 5 136963993 136963993 single base substitution G A synonymous_variant R446R 1338C>T LINC-JP 5 136963993 136963993 single base substitution G A synonymous_variant R496R 1488C>T LINC-JP 5 136963993 136963993 single base substitution G A synonymous_variant R528R 1584C>T LINC-JP 5 136974693 136974693 single base substitution C T exon_variant LINC-JP 5 136974693 136974693 single base substitution C T intron_variant LINC-JP 5 136974693 136974693 single base substitution C T missense_variant A308T 922G>A LINC-JP 5 136974693 136974693 single base substitution C T missense_variant A350T 1048G>A LINC-JP 5 136974693 136974693 single base substitution C T missense_variant A358T 1072G>A LINC-JP 5 136974693 136974693 single base substitution C T missense_variant A390T 1168G>A LINC-JP 5 136979504 136979504 single base substitution T C intron_variant LINC-JP 5 136999744 136999744 single base substitution T A intron_variant LINC-JP 5 137004766 137004766 single base substitution T C downstream_gene_variant LINC-JP 5 137004766 137004766 single base substitution T C intron_variant LINC-JP 5 137029551 137029551 deletion of <=200bp T - intron_variant LINC-JP 5 137029551 137029551 deletion of <=200bp T - upstream_gene_variant LINC-JP 5 137032691 137032691 single base substitution C T intron_variant LINC-JP 5 137032691 137032691 single base substitution C T upstream_gene_variant LINC-JP 5 137041540 137041540 single base substitution G C downstream_gene_variant LINC-JP 5 137041540 137041540 single base substitution G C intron_variant LINC-JP 5 137048608 137048608 single base substitution T A intron_variant LINC-JP 5 137053782 137053782 single base substitution G A intron_variant LIRI-JP 5 136948194 136948194 single base substitution C T downstream_gene_variant LIRI-JP 5 136950718 136950718 single base substitution C A downstream_gene_variant LIRI-JP 5 136954929 136954929 single base substitution G T 3_prime_UTR_variant LIRI-JP 5 136954929 136954929 single base substitution G T downstream_gene_variant LIRI-JP 5 136954929 136954929 single base substitution G T intron_variant LIRI-JP 5 136955699 136955699 single base substitution G A 3_prime_UTR_variant LIRI-JP 5 136955699 136955699 single base substitution G A downstream_gene_variant LIRI-JP 5 136955699 136955699 single base substitution G A intron_variant LIRI-JP 5 136956452 136956452 single base substitution C G 3_prime_UTR_variant LIRI-JP 5 136956452 136956452 single base substitution C G downstream_gene_variant LIRI-JP 5 136956452 136956452 single base substitution C G intron_variant LIRI-JP 5 136956931 136956931 single base substitution G A 3_prime_UTR_variant LIRI-JP 5 136956931 136956931 single base substitution G A downstream_gene_variant LIRI-JP 5 136956931 136956931 single base substitution G A exon_variant LIRI-JP 5 136956931 136956931 single base substitution G A intron_variant LIRI-JP 5 136957037 136957037 single base substitution C A 3_prime_UTR_variant LIRI-JP 5 136957037 136957037 single base substitution C A downstream_gene_variant LIRI-JP 5 136957037 136957037 single base substitution C A exon_variant LIRI-JP 5 136957037 136957037 single base substitution C A intron_variant LIRI-JP 5 136960723 136960723 single base substitution G A intron_variant LIRI-JP 5 136960724 136960724 single base substitution C G intron_variant LIRI-JP 5 136960729 136960729 single base substitution T C intron_variant LIRI-JP 5 136961759 136961759 single base substitution A C intron_variant LIRI-JP 5 136964668 136964668 single base substitution C A exon_variant LIRI-JP 5 136964668 136964668 single base substitution C A intron_variant LIRI-JP 5 136964668 136964668 single base substitution C A upstream_gene_variant LIRI-JP 5 136965109 136965109 single base substitution G A downstream_gene_variant LIRI-JP 5 136965109 136965109 single base substitution G A exon_variant LIRI-JP 5 136965109 136965109 single base substitution G A intron_variant LIRI-JP 5 136965109 136965109 single base substitution G A upstream_gene_variant LIRI-JP 5 136965428 136965428 single base substitution T C downstream_gene_variant LIRI-JP 5 136965428 136965428 single base substitution T C exon_variant LIRI-JP 5 136965428 136965428 single base substitution T C intron_variant LIRI-JP 5 136965428 136965428 single base substitution T C upstream_gene_variant LIRI-JP 5 136966663 136966663 single base substitution A G downstream_gene_variant LIRI-JP 5 136966663 136966663 single base substitution A G intron_variant LIRI-JP 5 136966663 136966663 single base substitution A G upstream_gene_variant LIRI-JP 5 136966742 136966742 single base substitution T C downstream_gene_variant LIRI-JP 5 136966742 136966742 single base substitution T C intron_variant LIRI-JP 5 136966742 136966742 single base substitution T C upstream_gene_variant LIRI-JP 5 136969194 136969194 single base substitution C A downstream_gene_variant LIRI-JP 5 136969194 136969194 single base substitution C A intron_variant LIRI-JP 5 136969194 136969194 single base substitution C A upstream_gene_variant LIRI-JP 5 136971088 136971088 single base substitution C T downstream_gene_variant LIRI-JP 5 136971088 136971088 single base substitution C T intron_variant LIRI-JP 5 136971469 136971469 single base substitution T C downstream_gene_variant LIRI-JP 5 136971469 136971469 single base substitution T C intron_variant LIRI-JP 5 136972106 136972106 single base substitution A G downstream_gene_variant LIRI-JP 5 136972106 136972106 single base substitution A G intron_variant LIRI-JP 5 136972823 136972823 single base substitution C T downstream_gene_variant LIRI-JP 5 136972823 136972823 single base substitution C T intron_variant LIRI-JP 5 136975342 136975342 single base substitution C T intron_variant LIRI-JP 5 136977200 136977200 single base substitution A T intron_variant LIRI-JP 5 136980966 136980966 single base substitution C T intron_variant LIRI-JP 5 136981104 136981104 single base substitution C T intron_variant LIRI-JP 5 136981445 136981445 single base substitution C T intron_variant LIRI-JP 5 136984374 136984374 single base substitution A G downstream_gene_variant LIRI-JP 5 136984374 136984374 single base substitution A G intron_variant LIRI-JP 5 136985197 136985197 single base substitution C G downstream_gene_variant LIRI-JP 5 136985197 136985197 single base substitution C G intron_variant LIRI-JP 5 136987282 136987282 single base substitution T C downstream_gene_variant LIRI-JP 5 136987282 136987282 single base substitution T C intron_variant LIRI-JP 5 136990337 136990337 single base substitution T A intron_variant LIRI-JP 5 136991094 136991094 single base substitution T C intron_variant LIRI-JP 5 136991237 136991237 single base substitution C T intron_variant LIRI-JP 5 136991669 136991669 single base substitution G T downstream_gene_variant LIRI-JP 5 136991669 136991669 single base substitution G T intron_variant LIRI-JP 5 136993728 136993728 single base substitution C T downstream_gene_variant LIRI-JP 5 136993728 136993728 single base substitution C T intron_variant LIRI-JP 5 136996393 136996393 single base substitution T A downstream_gene_variant LIRI-JP 5 136996393 136996393 single base substitution T A intron_variant LIRI-JP 5 136996925 136996925 single base substitution G A exon_variant LIRI-JP 5 136996925 136996925 single base substitution G A intron_variant LIRI-JP 5 136997239 136997239 single base substitution T G exon_variant LIRI-JP 5 136997239 136997239 single base substitution T G intron_variant LIRI-JP 5 136998700 136998700 single base substitution A T intron_variant LIRI-JP 5 136999045 136999045 single base substitution C T intron_variant LIRI-JP 5 137001599 137001599 single base substitution G T intron_variant LIRI-JP 5 137001869 137001869 single base substitution A G intron_variant LIRI-JP 5 137002009 137002009 single base substitution C T intron_variant LIRI-JP 5 137002031 137002031 single base substitution A T intron_variant LIRI-JP 5 137003273 137003273 single base substitution T G downstream_gene_variant LIRI-JP 5 137003273 137003273 single base substitution T G intron_variant LIRI-JP 5 137003772 137003772 single base substitution A G downstream_gene_variant LIRI-JP 5 137003772 137003772 single base substitution A G intron_variant LIRI-JP 5 137004072 137004072 single base substitution C T downstream_gene_variant LIRI-JP 5 137004072 137004072 single base substitution C T intron_variant LIRI-JP 5 137004308 137004308 single base substitution G T downstream_gene_variant LIRI-JP 5 137004308 137004308 single base substitution G T intron_variant LIRI-JP 5 137006616 137006616 single base substitution C A downstream_gene_variant LIRI-JP 5 137006616 137006616 single base substitution C A intron_variant LIRI-JP 5 137006882 137006882 single base substitution A T downstream_gene_variant LIRI-JP 5 137006882 137006882 single base substitution A T intron_variant LIRI-JP 5 137009604 137009609 deletion of <=200bp CTGACC - downstream_gene_variant LIRI-JP 5 137009604 137009609 deletion of <=200bp CTGACC - intron_variant LIRI-JP 5 137009604 137009609 deletion of <=200bp CTGACC - upstream_gene_variant LIRI-JP 5 137010342 137010342 single base substitution A G downstream_gene_variant LIRI-JP 5 137010342 137010342 single base substitution A G intron_variant LIRI-JP 5 137010342 137010342 single base substitution A G upstream_gene_variant LIRI-JP 5 137010490 137010490 single base substitution C A downstream_gene_variant LIRI-JP 5 137010490 137010490 single base substitution C A intron_variant LIRI-JP 5 137010490 137010490 single base substitution C A upstream_gene_variant LIRI-JP 5 137011075 137011075 single base substitution A G downstream_gene_variant LIRI-JP 5 137011075 137011075 single base substitution A G intron_variant LIRI-JP 5 137011075 137011075 single base substitution A G upstream_gene_variant LIRI-JP 5 137011517 137011517 single base substitution T A downstream_gene_variant LIRI-JP 5 137011517 137011517 single base substitution T A intron_variant LIRI-JP 5 137011517 137011517 single base substitution T A upstream_gene_variant LIRI-JP 5 137011524 137011524 single base substitution C T downstream_gene_variant LIRI-JP 5 137011524 137011524 single base substitution C T intron_variant LIRI-JP 5 137011524 137011524 single base substitution C T upstream_gene_variant LIRI-JP 5 137013000 137013000 single base substitution G C downstream_gene_variant LIRI-JP 5 137013000 137013000 single base substitution G C intron_variant LIRI-JP 5 137013000 137013000 single base substitution G C upstream_gene_variant LIRI-JP 5 137013912 137013912 single base substitution A G intron_variant LIRI-JP 5 137013912 137013912 single base substitution A G upstream_gene_variant LIRI-JP 5 137014131 137014131 single base substitution C A intron_variant LIRI-JP 5 137014131 137014131 single base substitution C A upstream_gene_variant LIRI-JP 5 137014384 137014384 single base substitution T C intron_variant LIRI-JP 5 137014384 137014384 single base substitution T C upstream_gene_variant LIRI-JP 5 137014693 137014693 single base substitution T C intron_variant LIRI-JP 5 137016808 137016808 single base substitution G A intron_variant LIRI-JP 5 137017168 137017168 single base substitution T C intron_variant LIRI-JP 5 137025220 137025220 single base substitution G A intron_variant LIRI-JP 5 137025489 137025489 single base substitution C G intron_variant LIRI-JP 5 137030067 137030067 single base substitution G T intron_variant LIRI-JP 5 137030067 137030067 single base substitution G T upstream_gene_variant LIRI-JP 5 137030358 137030358 single base substitution T C intron_variant LIRI-JP 5 137030358 137030358 single base substitution T C upstream_gene_variant LIRI-JP 5 137031611 137031611 single base substitution C A intron_variant LIRI-JP 5 137031611 137031611 single base substitution C A upstream_gene_variant LIRI-JP 5 137032224 137032224 single base substitution A G intron_variant LIRI-JP 5 137032224 137032224 single base substitution A G upstream_gene_variant LIRI-JP 5 137034002 137034002 single base substitution T A 5_prime_UTR_variant LIRI-JP 5 137034002 137034002 single base substitution T A exon_variant LIRI-JP 5 137034002 137034002 single base substitution T A missense_variant I113F 337A>T LIRI-JP 5 137034002 137034002 single base substitution T A missense_variant I31F 91A>T LIRI-JP 5 137034002 137034002 single base substitution T A missense_variant I73F 217A>T LIRI-JP 5 137034002 137034002 single base substitution T A missense_variant I81F 241A>T LIRI-JP 5 137036006 137036006 single base substitution T C intron_variant LIRI-JP 5 137036006 137036006 single base substitution T C upstream_gene_variant LIRI-JP 5 137036518 137036518 single base substitution T C intron_variant LIRI-JP 5 137036518 137036518 single base substitution T C upstream_gene_variant LIRI-JP 5 137038078 137038078 single base substitution A T downstream_gene_variant LIRI-JP 5 137038078 137038078 single base substitution A T intron_variant LIRI-JP 5 137038078 137038078 single base substitution A T upstream_gene_variant LIRI-JP 5 137038271 137038271 single base substitution A G downstream_gene_variant LIRI-JP 5 137038271 137038271 single base substitution A G intron_variant LIRI-JP 5 137038271 137038271 single base substitution A G upstream_gene_variant LIRI-JP 5 137038563 137038563 single base substitution C A downstream_gene_variant LIRI-JP 5 137038563 137038563 single base substitution C A intron_variant LIRI-JP 5 137038563 137038563 single base substitution C A upstream_gene_variant LIRI-JP 5 137041248 137041248 single base substitution A G downstream_gene_variant LIRI-JP 5 137041248 137041248 single base substitution A G intron_variant LIRI-JP 5 137042162 137042162 single base substitution C A intron_variant LIRI-JP 5 137042162 137042162 single base substitution C A upstream_gene_variant LIRI-JP 5 137042584 137042584 single base substitution G A intron_variant LIRI-JP 5 137042584 137042584 single base substitution G A upstream_gene_variant LIRI-JP 5 137043592 137043592 single base substitution T G intron_variant LIRI-JP 5 137043592 137043592 single base substitution T G upstream_gene_variant LIRI-JP 5 137044032 137044032 single base substitution G A intron_variant LIRI-JP 5 137044032 137044032 single base substitution G A upstream_gene_variant LIRI-JP 5 137044209 137044209 single base substitution T C intron_variant LIRI-JP 5 137044209 137044209 single base substitution T C upstream_gene_variant LIRI-JP 5 137046619 137046619 single base substitution A C intron_variant LIRI-JP 5 137046619 137046619 single base substitution A C upstream_gene_variant LIRI-JP 5 137047779 137047779 single base substitution C T intron_variant LIRI-JP 5 137048971 137048971 single base substitution T C intron_variant LIRI-JP 5 137053678 137053678 single base substitution C T intron_variant LIRI-JP 5 137054755 137054755 single base substitution T C intron_variant LIRI-JP 5 137056398 137056398 deletion of <=200bp A - 5_prime_UTR_variant LIRI-JP 5 137056398 137056398 deletion of <=200bp A - intron_variant LIRI-JP 5 137057466 137057466 single base substitution T C intron_variant LIRI-JP 5 137057466 137057466 single base substitution T C upstream_gene_variant LIRI-JP 5 137060624 137060624 single base substitution C G intron_variant LIRI-JP 5 137060624 137060624 single base substitution C G upstream_gene_variant LIRI-JP 5 137060901 137060901 single base substitution C T intron_variant LIRI-JP 5 137060901 137060901 single base substitution C T upstream_gene_variant LIRI-JP 5 137061016 137061016 single base substitution G A intron_variant LIRI-JP 5 137061016 137061016 single base substitution G A upstream_gene_variant LIRI-JP 5 137062365 137062365 single base substitution C A intron_variant LIRI-JP 5 137063842 137063842 single base substitution T C intron_variant LIRI-JP 5 137067618 137067618 single base substitution C A intron_variant LIRI-JP 5 137068473 137068473 single base substitution T C intron_variant LIRI-JP 5 137069362 137069364 deletion of <=200bp AGA - intron_variant LIRI-JP 5 137073655 137073655 single base substitution A G upstream_gene_variant LIRI-JP 5 137073899 137073899 single base substitution C A upstream_gene_variant LIRI-JP 5 137074444 137074444 single base substitution T A upstream_gene_variant LUSC-KR 5 136948691 136948691 single base substitution C G downstream_gene_variant LUSC-KR 5 136951997 136951997 single base substitution C A downstream_gene_variant LUSC-KR 5 136953091 136953091 single base substitution T A downstream_gene_variant LUSC-KR 5 136953577 136953577 single base substitution T C 3_prime_UTR_variant LUSC-KR 5 136953577 136953577 single base substitution T C downstream_gene_variant LUSC-KR 5 136953577 136953577 single base substitution T C intron_variant LUSC-KR 5 136954719 136954719 single base substitution T C 3_prime_UTR_variant LUSC-KR 5 136954719 136954719 single base substitution T C downstream_gene_variant LUSC-KR 5 136954719 136954719 single base substitution T C intron_variant LUSC-KR 5 136955383 136955383 single base substitution G T 3_prime_UTR_variant LUSC-KR 5 136955383 136955383 single base substitution G T downstream_gene_variant LUSC-KR 5 136955383 136955383 single base substitution G T intron_variant LUSC-KR 5 136960777 136960777 single base substitution G C intron_variant LUSC-KR 5 136961400 136961400 single base substitution T C intron_variant LUSC-KR 5 136961413 136961413 single base substitution G A intron_variant LUSC-KR 5 136963211 136963211 single base substitution T G intron_variant LUSC-KR 5 136965105 136965105 single base substitution G T downstream_gene_variant LUSC-KR 5 136965105 136965105 single base substitution G T exon_variant LUSC-KR 5 136965105 136965105 single base substitution G T intron_variant LUSC-KR 5 136965105 136965105 single base substitution G T upstream_gene_variant LUSC-KR 5 136965186 136965186 single base substitution A T downstream_gene_variant LUSC-KR 5 136965186 136965186 single base substitution A T exon_variant LUSC-KR 5 136965186 136965186 single base substitution A T intron_variant LUSC-KR 5 136965186 136965186 single base substitution A T upstream_gene_variant LUSC-KR 5 136969793 136969793 single base substitution C T downstream_gene_variant LUSC-KR 5 136969793 136969793 single base substitution C T exon_variant LUSC-KR 5 136969793 136969793 single base substitution C T intron_variant LUSC-KR 5 136969793 136969793 single base substitution C T synonymous_variant E379E 1137G>A LUSC-KR 5 136969793 136969793 single base substitution C T synonymous_variant E429E 1287G>A LUSC-KR 5 136969793 136969793 single base substitution C T synonymous_variant E461E 1383G>A LUSC-KR 5 136969793 136969793 single base substitution C T upstream_gene_variant LUSC-KR 5 136980908 136980908 single base substitution G A intron_variant LUSC-KR 5 136981355 136981355 single base substitution T C intron_variant LUSC-KR 5 136996467 136996467 single base substitution T C exon_variant LUSC-KR 5 136996467 136996467 single base substitution T C intron_variant LUSC-KR 5 136996810 136996810 single base substitution G T exon_variant LUSC-KR 5 136996810 136996810 single base substitution G T intron_variant LUSC-KR 5 136997287 136997287 single base substitution C T exon_variant LUSC-KR 5 136997287 136997287 single base substitution C T intron_variant LUSC-KR 5 136997784 136997784 single base substitution T A intron_variant LUSC-KR 5 137013218 137013218 single base substitution G A intron_variant LUSC-KR 5 137013218 137013218 single base substitution G A upstream_gene_variant LUSC-KR 5 137019471 137019471 single base substitution T A intron_variant LUSC-KR 5 137022646 137022646 single base substitution G A intron_variant LUSC-KR 5 137022695 137022695 single base substitution A G intron_variant LUSC-KR 5 137022730 137022730 single base substitution C T intron_variant LUSC-KR 5 137022777 137022777 single base substitution G A intron_variant LUSC-KR 5 137022782 137022782 single base substitution G A intron_variant LUSC-KR 5 137022797 137022797 single base substitution C T intron_variant LUSC-KR 5 137023305 137023305 single base substitution T A intron_variant LUSC-KR 5 137029853 137029853 single base substitution C T intron_variant LUSC-KR 5 137029853 137029853 single base substitution C T upstream_gene_variant LUSC-KR 5 137030079 137030079 single base substitution C T intron_variant LUSC-KR 5 137030079 137030079 single base substitution C T upstream_gene_variant LUSC-KR 5 137038286 137038286 single base substitution T C downstream_gene_variant LUSC-KR 5 137038286 137038286 single base substitution T C intron_variant LUSC-KR 5 137038286 137038286 single base substitution T C upstream_gene_variant LUSC-KR 5 137048354 137048354 single base substitution T C intron_variant LUSC-KR 5 137048410 137048410 single base substitution A T intron_variant LUSC-KR 5 137057329 137057329 single base substitution T C intron_variant LUSC-KR 5 137057329 137057329 single base substitution T C upstream_gene_variant LUSC-KR 5 137069273 137069273 single base substitution G C intron_variant LUSC-KR 5 137075352 137075352 single base substitution T C upstream_gene_variant LUSC-US 5 136961565 136961565 single base substitution G A 3_prime_UTR_variant LUSC-US 5 136961565 136961565 single base substitution G A exon_variant LUSC-US 5 136961565 136961565 single base substitution G A intron_variant LUSC-US 5 136961565 136961565 single base substitution G A missense_variant L456F 1366C>T LUSC-US 5 136961565 136961565 single base substitution G A missense_variant L506F 1516C>T LUSC-US 5 136961565 136961565 single base substitution G A missense_variant L538F 1612C>T LUSC-US 5 136963999 136963999 single base substitution G A 3_prime_UTR_variant LUSC-US 5 136963999 136963999 single base substitution G A exon_variant LUSC-US 5 136963999 136963999 single base substitution G A synonymous_variant C444C 1332C>T LUSC-US 5 136963999 136963999 single base substitution G A synonymous_variant C494C 1482C>T LUSC-US 5 136963999 136963999 single base substitution G A synonymous_variant C526C 1578C>T MALY-DE 5 136958841 136958841 single base substitution A G intron_variant MALY-DE 5 136964327 136964327 single base substitution A G exon_variant MALY-DE 5 136964327 136964327 single base substitution A G intron_variant MALY-DE 5 136967435 136967435 single base substitution G C downstream_gene_variant MALY-DE 5 136967435 136967435 single base substitution G C intron_variant MALY-DE 5 136967435 136967435 single base substitution G C upstream_gene_variant MALY-DE 5 136968692 136968692 single base substitution G A downstream_gene_variant MALY-DE 5 136968692 136968692 single base substitution G A intron_variant MALY-DE 5 136968692 136968692 single base substitution G A upstream_gene_variant MALY-DE 5 136970998 136970998 single base substitution G A downstream_gene_variant MALY-DE 5 136970998 136970998 single base substitution G A intron_variant MALY-DE 5 136971497 136971497 single base substitution C T downstream_gene_variant MALY-DE 5 136971497 136971497 single base substitution C T intron_variant MALY-DE 5 136984210 136984210 single base substitution G A downstream_gene_variant MALY-DE 5 136984210 136984210 single base substitution G A intron_variant MALY-DE 5 136993081 136993081 single base substitution G T downstream_gene_variant MALY-DE 5 136993081 136993081 single base substitution G T intron_variant MALY-DE 5 136997776 136997776 single base substitution A G intron_variant MALY-DE 5 137002804 137002804 single base substitution A T downstream_gene_variant MALY-DE 5 137002804 137002804 single base substitution A T intron_variant MALY-DE 5 137013373 137013373 single base substitution G A intron_variant MALY-DE 5 137013373 137013373 single base substitution G A upstream_gene_variant MALY-DE 5 137014706 137014706 insertion of <=200bp - A intron_variant MALY-DE 5 137021362 137021362 single base substitution C G intron_variant MALY-DE 5 137027797 137027797 single base substitution C T intron_variant MALY-DE 5 137037576 137037576 single base substitution A T downstream_gene_variant MALY-DE 5 137037576 137037576 single base substitution A T intron_variant MALY-DE 5 137037576 137037576 single base substitution A T upstream_gene_variant MALY-DE 5 137043560 137043560 single base substitution A G intron_variant MALY-DE 5 137043560 137043560 single base substitution A G upstream_gene_variant MALY-DE 5 137054231 137054231 single base substitution G T intron_variant MALY-DE 5 137055984 137055984 single base substitution C T intron_variant MALY-DE 5 137058989 137058989 single base substitution A T intron_variant MALY-DE 5 137058989 137058989 single base substitution A T upstream_gene_variant MALY-DE 5 137059898 137059898 single base substitution A C intron_variant MALY-DE 5 137059898 137059898 single base substitution A C upstream_gene_variant MALY-DE 5 137066085 137066085 single base substitution G C intron_variant MALY-DE 5 137067235 137067235 single base substitution A G intron_variant MELA-AU 5 136948806 136948806 single base substitution G A downstream_gene_variant MELA-AU 5 136948820 136948820 single base substitution G A downstream_gene_variant MELA-AU 5 136948868 136948868 single base substitution C T downstream_gene_variant MELA-AU 5 136948936 136948936 single base substitution G A downstream_gene_variant MELA-AU 5 136949119 136949119 single base substitution T A downstream_gene_variant MELA-AU 5 136949192 136949192 single base substitution C T downstream_gene_variant MELA-AU 5 136949324 136949324 single base substitution G A downstream_gene_variant MELA-AU 5 136949489 136949489 single base substitution C T downstream_gene_variant MELA-AU 5 136949498 136949498 single base substitution G A downstream_gene_variant MELA-AU 5 136949953 136949953 single base substitution G A downstream_gene_variant MELA-AU 5 136950177 136950177 single base substitution C T downstream_gene_variant MELA-AU 5 136950399 136950399 single base substitution C T downstream_gene_variant MELA-AU 5 136951006 136951006 single base substitution G A downstream_gene_variant MELA-AU 5 136951228 136951228 single base substitution C A downstream_gene_variant MELA-AU 5 136951877 136951877 single base substitution C T downstream_gene_variant MELA-AU 5 136952012 136952012 single base substitution G A downstream_gene_variant MELA-AU 5 136952347 136952347 single base substitution G A downstream_gene_variant MELA-AU 5 136952759 136952759 single base substitution G A downstream_gene_variant MELA-AU 5 136952765 136952765 single base substitution G T downstream_gene_variant MELA-AU 5 136952871 136952871 single base substitution C T downstream_gene_variant MELA-AU 5 136954195 136954196 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 5 136954195 136954196 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 5 136954195 136954196 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 136955608 136955608 single base substitution G A 3_prime_UTR_variant MELA-AU 5 136955608 136955608 single base substitution G A downstream_gene_variant MELA-AU 5 136955608 136955608 single base substitution G A intron_variant MELA-AU 5 136955699 136955699 single base substitution G A 3_prime_UTR_variant MELA-AU 5 136955699 136955699 single base substitution G A downstream_gene_variant MELA-AU 5 136955699 136955699 single base substitution G A intron_variant MELA-AU 5 136955726 136955726 single base substitution A T 3_prime_UTR_variant MELA-AU 5 136955726 136955726 single base substitution A T downstream_gene_variant MELA-AU 5 136955726 136955726 single base substitution A T intron_variant MELA-AU 5 136955799 136955799 single base substitution C T 3_prime_UTR_variant MELA-AU 5 136955799 136955799 single base substitution C T downstream_gene_variant MELA-AU 5 136955799 136955799 single base substitution C T intron_variant MELA-AU 5 136955819 136955819 single base substitution G A 3_prime_UTR_variant MELA-AU 5 136955819 136955819 single base substitution G A downstream_gene_variant MELA-AU 5 136955819 136955819 single base substitution G A intron_variant MELA-AU 5 136955918 136955918 single base substitution C T 3_prime_UTR_variant MELA-AU 5 136955918 136955918 single base substitution C T downstream_gene_variant MELA-AU 5 136955918 136955918 single base substitution C T intron_variant MELA-AU 5 136956434 136956434 single base substitution C T 3_prime_UTR_variant MELA-AU 5 136956434 136956434 single base substitution C T downstream_gene_variant MELA-AU 5 136956434 136956434 single base substitution C T intron_variant MELA-AU 5 136956684 136956684 single base substitution G A 3_prime_UTR_variant MELA-AU 5 136956684 136956684 single base substitution G A downstream_gene_variant MELA-AU 5 136956684 136956684 single base substitution G A intron_variant MELA-AU 5 136956821 136956821 single base substitution G A 3_prime_UTR_variant MELA-AU 5 136956821 136956821 single base substitution G A downstream_gene_variant MELA-AU 5 136956821 136956821 single base substitution G A intron_variant MELA-AU 5 136956878 136956878 single base substitution A C 3_prime_UTR_variant MELA-AU 5 136956878 136956878 single base substitution A C downstream_gene_variant MELA-AU 5 136956878 136956878 single base substitution A C intron_variant MELA-AU 5 136956960 136956960 single base substitution G A 3_prime_UTR_variant MELA-AU 5 136956960 136956960 single base substitution G A downstream_gene_variant MELA-AU 5 136956960 136956960 single base substitution G A exon_variant MELA-AU 5 136956960 136956960 single base substitution G A intron_variant MELA-AU 5 136957381 136957381 single base substitution G A 3_prime_UTR_variant MELA-AU 5 136957381 136957381 single base substitution G A downstream_gene_variant MELA-AU 5 136957381 136957381 single base substitution G A exon_variant MELA-AU 5 136957381 136957381 single base substitution G A intron_variant MELA-AU 5 136957463 136957463 single base substitution G A 3_prime_UTR_variant MELA-AU 5 136957463 136957463 single base substitution G A downstream_gene_variant MELA-AU 5 136957463 136957463 single base substitution G A exon_variant MELA-AU 5 136957463 136957463 single base substitution G A intron_variant MELA-AU 5 136957606 136957606 single base substitution G A 3_prime_UTR_variant MELA-AU 5 136957606 136957606 single base substitution G A downstream_gene_variant MELA-AU 5 136957606 136957606 single base substitution G A exon_variant MELA-AU 5 136957606 136957606 single base substitution G A intron_variant MELA-AU 5 136957794 136957794 single base substitution G A 3_prime_UTR_variant MELA-AU 5 136957794 136957794 single base substitution G A exon_variant MELA-AU 5 136957794 136957794 single base substitution G A intron_variant MELA-AU 5 136957794 136957794 single base substitution G A missense_variant S504F 1511C>T MELA-AU 5 136957794 136957794 single base substitution G A missense_variant S554F 1661C>T MELA-AU 5 136957794 136957794 single base substitution G A missense_variant S586F 1757C>T MELA-AU 5 136958228 136958228 single base substitution G A intron_variant MELA-AU 5 136958256 136958256 single base substitution G A intron_variant MELA-AU 5 136958369 136958369 single base substitution G A intron_variant MELA-AU 5 136959335 136959335 single base substitution A T intron_variant MELA-AU 5 136960048 136960048 single base substitution C T intron_variant MELA-AU 5 136961051 136961051 single base substitution C T intron_variant MELA-AU 5 136961435 136961435 single base substitution C G intron_variant MELA-AU 5 136961435 136961435 single base substitution C G splice_region_variant MELA-AU 5 136961537 136961537 single base substitution C T 3_prime_UTR_variant MELA-AU 5 136961537 136961537 single base substitution C T exon_variant MELA-AU 5 136961537 136961537 single base substitution C T intron_variant MELA-AU 5 136961537 136961537 single base substitution C T missense_variant G465E 1394G>A MELA-AU 5 136961537 136961537 single base substitution C T missense_variant G515E 1544G>A MELA-AU 5 136961537 136961537 single base substitution C T missense_variant G547E 1640G>A MELA-AU 5 136961688 136961688 single base substitution C T intron_variant MELA-AU 5 136962061 136962061 single base substitution C T intron_variant MELA-AU 5 136962361 136962361 single base substitution G A intron_variant MELA-AU 5 136962498 136962498 single base substitution A G intron_variant MELA-AU 5 136962512 136962512 single base substitution G A intron_variant MELA-AU 5 136962815 136962815 single base substitution C A intron_variant MELA-AU 5 136963153 136963153 single base substitution A G intron_variant MELA-AU 5 136963791 136963791 single base substitution G A exon_variant MELA-AU 5 136963791 136963791 single base substitution G A intron_variant MELA-AU 5 136963892 136963892 single base substitution G A exon_variant MELA-AU 5 136963892 136963892 single base substitution G A intron_variant MELA-AU 5 136964075 136964075 single base substitution G A 3_prime_UTR_variant MELA-AU 5 136964075 136964075 single base substitution G A exon_variant MELA-AU 5 136964075 136964075 single base substitution G A missense_variant L199F 595C>T MELA-AU 5 136964075 136964075 single base substitution G A missense_variant P419L 1256C>T MELA-AU 5 136964075 136964075 single base substitution G A missense_variant P469L 1406C>T MELA-AU 5 136964075 136964075 single base substitution G A missense_variant P501L 1502C>T MELA-AU 5 136964125 136964126 multiple base substitution (>=2bp and <=200bp) CC AT exon_variant MELA-AU 5 136964125 136964126 multiple base substitution (>=2bp and <=200bp) CC AT missense_variant G182M 544GG>AT MELA-AU 5 136964125 136964126 multiple base substitution (>=2bp and <=200bp) CC AT missense_variant G402D 1205GG>AT MELA-AU 5 136964125 136964126 multiple base substitution (>=2bp and <=200bp) CC AT missense_variant G452D 1355GG>AT MELA-AU 5 136964125 136964126 multiple base substitution (>=2bp and <=200bp) CC AT missense_variant G484D 1451GG>AT MELA-AU 5 136964125 136964126 multiple base substitution (>=2bp and <=200bp) CC AT splice_region_variant MELA-AU 5 136964379 136964379 insertion of <=200bp - T exon_variant MELA-AU 5 136964379 136964379 insertion of <=200bp - T intron_variant MELA-AU 5 136964379 136964379 insertion of <=200bp - T upstream_gene_variant MELA-AU 5 136964758 136964758 single base substitution C T downstream_gene_variant MELA-AU 5 136964758 136964758 single base substitution C T exon_variant MELA-AU 5 136964758 136964758 single base substitution C T intron_variant MELA-AU 5 136964758 136964758 single base substitution C T upstream_gene_variant MELA-AU 5 136965105 136965105 single base substitution G A downstream_gene_variant MELA-AU 5 136965105 136965105 single base substitution G A exon_variant MELA-AU 5 136965105 136965105 single base substitution G A intron_variant MELA-AU 5 136965105 136965105 single base substitution G A upstream_gene_variant MELA-AU 5 136965264 136965264 single base substitution G A downstream_gene_variant MELA-AU 5 136965264 136965264 single base substitution G A exon_variant MELA-AU 5 136965264 136965264 single base substitution G A intron_variant MELA-AU 5 136965264 136965264 single base substitution G A upstream_gene_variant MELA-AU 5 136965430 136965430 single base substitution G A downstream_gene_variant MELA-AU 5 136965430 136965430 single base substitution G A exon_variant MELA-AU 5 136965430 136965430 single base substitution G A intron_variant MELA-AU 5 136965430 136965430 single base substitution G A upstream_gene_variant MELA-AU 5 136966261 136966261 single base substitution G A downstream_gene_variant MELA-AU 5 136966261 136966261 single base substitution G A intron_variant MELA-AU 5 136966261 136966261 single base substitution G A upstream_gene_variant MELA-AU 5 136966416 136966416 single base substitution G A downstream_gene_variant MELA-AU 5 136966416 136966416 single base substitution G A intron_variant MELA-AU 5 136966416 136966416 single base substitution G A upstream_gene_variant MELA-AU 5 136966442 136966442 single base substitution G A downstream_gene_variant MELA-AU 5 136966442 136966442 single base substitution G A intron_variant MELA-AU 5 136966442 136966442 single base substitution G A upstream_gene_variant MELA-AU 5 136966815 136966815 single base substitution A T downstream_gene_variant MELA-AU 5 136966815 136966815 single base substitution A T intron_variant MELA-AU 5 136966815 136966815 single base substitution A T upstream_gene_variant MELA-AU 5 136967242 136967242 single base substitution G A downstream_gene_variant MELA-AU 5 136967242 136967242 single base substitution G A intron_variant MELA-AU 5 136967242 136967242 single base substitution G A upstream_gene_variant MELA-AU 5 136967545 136967545 single base substitution C T downstream_gene_variant MELA-AU 5 136967545 136967545 single base substitution C T intron_variant MELA-AU 5 136967545 136967545 single base substitution C T upstream_gene_variant MELA-AU 5 136967724 136967724 single base substitution T A downstream_gene_variant MELA-AU 5 136967724 136967724 single base substitution T A intron_variant MELA-AU 5 136967724 136967724 single base substitution T A upstream_gene_variant MELA-AU 5 136968592 136968592 single base substitution G A downstream_gene_variant MELA-AU 5 136968592 136968592 single base substitution G A intron_variant MELA-AU 5 136968592 136968592 single base substitution G A upstream_gene_variant MELA-AU 5 136969467 136969467 single base substitution A G downstream_gene_variant MELA-AU 5 136969467 136969467 single base substitution A G intron_variant MELA-AU 5 136969467 136969467 single base substitution A G upstream_gene_variant MELA-AU 5 136971638 136971638 single base substitution C T downstream_gene_variant MELA-AU 5 136971638 136971638 single base substitution C T intron_variant MELA-AU 5 136973383 136973383 single base substitution C T intron_variant MELA-AU 5 136973427 136973427 single base substitution C T intron_variant MELA-AU 5 136973957 136973957 single base substitution G A intron_variant MELA-AU 5 136974468 136974468 single base substitution G A intron_variant MELA-AU 5 136974546 136974546 single base substitution G A intron_variant MELA-AU 5 136974706 136974706 single base substitution G C exon_variant MELA-AU 5 136974706 136974706 single base substitution G C intron_variant MELA-AU 5 136974706 136974706 single base substitution G C missense_variant S303R 909C>G MELA-AU 5 136974706 136974706 single base substitution G C missense_variant S345R 1035C>G MELA-AU 5 136974706 136974706 single base substitution G C missense_variant S353R 1059C>G MELA-AU 5 136974706 136974706 single base substitution G C missense_variant S385R 1155C>G MELA-AU 5 136974808 136974808 single base substitution G A exon_variant MELA-AU 5 136974808 136974808 single base substitution G A intron_variant MELA-AU 5 136974808 136974808 single base substitution G A synonymous_variant A269A 807C>T MELA-AU 5 136974808 136974808 single base substitution G A synonymous_variant A311A 933C>T MELA-AU 5 136974808 136974808 single base substitution G A synonymous_variant A319A 957C>T MELA-AU 5 136974808 136974808 single base substitution G A synonymous_variant A351A 1053C>T MELA-AU 5 136975074 136975074 single base substitution C T intron_variant MELA-AU 5 136975156 136975156 single base substitution G A intron_variant MELA-AU 5 136975307 136975307 single base substitution C T intron_variant MELA-AU 5 136975570 136975570 single base substitution G A exon_variant MELA-AU 5 136975570 136975570 single base substitution G A intron_variant MELA-AU 5 136975570 136975570 single base substitution G A missense_variant P252S 754C>T MELA-AU 5 136975570 136975570 single base substitution G A missense_variant P294S 880C>T MELA-AU 5 136975570 136975570 single base substitution G A missense_variant P302S 904C>T MELA-AU 5 136975570 136975570 single base substitution G A missense_variant P334S 1000C>T MELA-AU 5 136975604 136975604 single base substitution G A exon_variant MELA-AU 5 136975604 136975604 single base substitution G A intron_variant MELA-AU 5 136975604 136975604 single base substitution G A synonymous_variant F240F 720C>T MELA-AU 5 136975604 136975604 single base substitution G A synonymous_variant F282F 846C>T MELA-AU 5 136975604 136975604 single base substitution G A synonymous_variant F290F 870C>T MELA-AU 5 136975604 136975604 single base substitution G A synonymous_variant F322F 966C>T MELA-AU 5 136975725 136975725 single base substitution C T intron_variant MELA-AU 5 136975893 136975893 single base substitution C T intron_variant MELA-AU 5 136976184 136976184 single base substitution G A intron_variant MELA-AU 5 136976406 136976406 single base substitution G A intron_variant MELA-AU 5 136976535 136976535 single base substitution G A intron_variant MELA-AU 5 136976836 136976836 single base substitution C T intron_variant MELA-AU 5 136977037 136977054 deletion of <=200bp CTATCCCCAGAGTGTGAT - intron_variant MELA-AU 5 136977779 136977779 single base substitution C T intron_variant MELA-AU 5 136977989 136977989 single base substitution G A intron_variant MELA-AU 5 136978482 136978482 single base substitution C T intron_variant MELA-AU 5 136978834 136978834 single base substitution G A intron_variant MELA-AU 5 136980058 136980058 single base substitution C T intron_variant MELA-AU 5 136980208 136980208 single base substitution C T intron_variant MELA-AU 5 136980214 136980214 single base substitution G A intron_variant MELA-AU 5 136980580 136980580 single base substitution G A intron_variant MELA-AU 5 136980717 136980717 single base substitution C T intron_variant MELA-AU 5 136980718 136980718 single base substitution G A intron_variant MELA-AU 5 136981016 136981016 single base substitution G A intron_variant MELA-AU 5 136981050 136981050 single base substitution G A intron_variant MELA-AU 5 136981135 136981135 single base substitution G A intron_variant MELA-AU 5 136981525 136981526 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 5 136983002 136983002 single base substitution G A intron_variant MELA-AU 5 136983505 136983505 single base substitution G A downstream_gene_variant MELA-AU 5 136983505 136983505 single base substitution G A intron_variant MELA-AU 5 136984532 136984532 single base substitution C T downstream_gene_variant MELA-AU 5 136984532 136984532 single base substitution C T intron_variant MELA-AU 5 136985662 136985662 single base substitution A G downstream_gene_variant MELA-AU 5 136985662 136985662 single base substitution A G intron_variant MELA-AU 5 136986425 136986425 single base substitution C T downstream_gene_variant MELA-AU 5 136986425 136986425 single base substitution C T intron_variant MELA-AU 5 136986877 136986877 single base substitution G A downstream_gene_variant MELA-AU 5 136986877 136986877 single base substitution G A intron_variant MELA-AU 5 136986879 136986880 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 136986879 136986880 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 136988342 136988342 single base substitution G A downstream_gene_variant MELA-AU 5 136988342 136988342 single base substitution G A intron_variant MELA-AU 5 136988382 136988382 single base substitution G A downstream_gene_variant MELA-AU 5 136988382 136988382 single base substitution G A intron_variant MELA-AU 5 136988840 136988840 single base substitution G A intron_variant MELA-AU 5 136989638 136989638 single base substitution G A intron_variant MELA-AU 5 136990618 136990618 single base substitution C T intron_variant MELA-AU 5 136990993 136990993 single base substitution G A intron_variant MELA-AU 5 136991791 136991791 single base substitution C T downstream_gene_variant MELA-AU 5 136991791 136991791 single base substitution C T intron_variant MELA-AU 5 136992067 136992067 single base substitution G A downstream_gene_variant MELA-AU 5 136992067 136992067 single base substitution G A intron_variant MELA-AU 5 136992463 136992463 single base substitution T A downstream_gene_variant MELA-AU 5 136992463 136992463 single base substitution T A intron_variant MELA-AU 5 136992826 136992826 single base substitution C T downstream_gene_variant MELA-AU 5 136992826 136992826 single base substitution C T intron_variant MELA-AU 5 136993042 136993042 single base substitution C T downstream_gene_variant MELA-AU 5 136993042 136993042 single base substitution C T intron_variant MELA-AU 5 136993386 136993386 single base substitution C T downstream_gene_variant MELA-AU 5 136993386 136993386 single base substitution C T intron_variant MELA-AU 5 136994144 136994144 single base substitution G A downstream_gene_variant MELA-AU 5 136994144 136994144 single base substitution G A intron_variant MELA-AU 5 136994403 136994403 single base substitution G A downstream_gene_variant MELA-AU 5 136994403 136994403 single base substitution G A intron_variant MELA-AU 5 136994404 136994404 single base substitution G A downstream_gene_variant MELA-AU 5 136994404 136994404 single base substitution G A intron_variant MELA-AU 5 136994465 136994465 single base substitution G A downstream_gene_variant MELA-AU 5 136994465 136994465 single base substitution G A intron_variant MELA-AU 5 136994540 136994540 single base substitution G A downstream_gene_variant MELA-AU 5 136994540 136994540 single base substitution G A intron_variant MELA-AU 5 136995156 136995156 single base substitution C T downstream_gene_variant MELA-AU 5 136995156 136995156 single base substitution C T intron_variant MELA-AU 5 136995199 136995199 single base substitution T G downstream_gene_variant MELA-AU 5 136995199 136995199 single base substitution T G intron_variant MELA-AU 5 136995678 136995678 single base substitution C T downstream_gene_variant MELA-AU 5 136995678 136995678 single base substitution C T intron_variant MELA-AU 5 136996087 136996087 single base substitution C T downstream_gene_variant MELA-AU 5 136996087 136996087 single base substitution C T intron_variant MELA-AU 5 136996188 136996188 single base substitution G A downstream_gene_variant MELA-AU 5 136996188 136996188 single base substitution G A intron_variant MELA-AU 5 136996216 136996216 single base substitution G A downstream_gene_variant MELA-AU 5 136996216 136996216 single base substitution G A intron_variant MELA-AU 5 136996268 136996268 single base substitution C T downstream_gene_variant MELA-AU 5 136996268 136996268 single base substitution C T intron_variant MELA-AU 5 136998640 136998640 single base substitution G A intron_variant MELA-AU 5 136999015 136999015 single base substitution G A intron_variant MELA-AU 5 136999220 136999220 single base substitution A G intron_variant MELA-AU 5 136999614 136999614 single base substitution G A intron_variant MELA-AU 5 136999746 136999746 single base substitution A T intron_variant MELA-AU 5 137000134 137000134 single base substitution G A intron_variant MELA-AU 5 137000480 137000480 single base substitution C T intron_variant MELA-AU 5 137000598 137000598 single base substitution G A intron_variant MELA-AU 5 137001067 137001067 single base substitution T C intron_variant MELA-AU 5 137001928 137001928 single base substitution G A intron_variant MELA-AU 5 137002321 137002321 single base substitution T C intron_variant MELA-AU 5 137002557 137002557 single base substitution C T downstream_gene_variant MELA-AU 5 137002557 137002557 single base substitution C T intron_variant MELA-AU 5 137002565 137002565 single base substitution C T downstream_gene_variant MELA-AU 5 137002565 137002565 single base substitution C T intron_variant MELA-AU 5 137003318 137003318 single base substitution G A downstream_gene_variant MELA-AU 5 137003318 137003318 single base substitution G A intron_variant MELA-AU 5 137003920 137003920 single base substitution G A downstream_gene_variant MELA-AU 5 137003920 137003920 single base substitution G A intron_variant MELA-AU 5 137004087 137004087 single base substitution A C downstream_gene_variant MELA-AU 5 137004087 137004087 single base substitution A C intron_variant MELA-AU 5 137004256 137004256 single base substitution A G downstream_gene_variant MELA-AU 5 137004256 137004256 single base substitution A G intron_variant MELA-AU 5 137004402 137004402 single base substitution G A downstream_gene_variant MELA-AU 5 137004402 137004402 single base substitution G A intron_variant MELA-AU 5 137004550 137004550 single base substitution G A downstream_gene_variant MELA-AU 5 137004550 137004550 single base substitution G A intron_variant MELA-AU 5 137004558 137004558 single base substitution G A downstream_gene_variant MELA-AU 5 137004558 137004558 single base substitution G A intron_variant MELA-AU 5 137005121 137005121 single base substitution T A downstream_gene_variant MELA-AU 5 137005121 137005121 single base substitution T A intron_variant MELA-AU 5 137005142 137005142 single base substitution A C downstream_gene_variant MELA-AU 5 137005142 137005142 single base substitution A C intron_variant MELA-AU 5 137005206 137005206 single base substitution G A downstream_gene_variant MELA-AU 5 137005206 137005206 single base substitution G A intron_variant MELA-AU 5 137005213 137005213 single base substitution T C downstream_gene_variant MELA-AU 5 137005213 137005213 single base substitution T C intron_variant MELA-AU 5 137005376 137005376 single base substitution G A downstream_gene_variant MELA-AU 5 137005376 137005376 single base substitution G A intron_variant MELA-AU 5 137005565 137005565 single base substitution T C downstream_gene_variant MELA-AU 5 137005565 137005565 single base substitution T C intron_variant MELA-AU 5 137005750 137005750 single base substitution G A downstream_gene_variant MELA-AU 5 137005750 137005750 single base substitution G A intron_variant MELA-AU 5 137006189 137006189 single base substitution C T downstream_gene_variant MELA-AU 5 137006189 137006189 single base substitution C T intron_variant MELA-AU 5 137006377 137006377 single base substitution G A downstream_gene_variant MELA-AU 5 137006377 137006377 single base substitution G A intron_variant MELA-AU 5 137006379 137006379 single base substitution C T downstream_gene_variant MELA-AU 5 137006379 137006379 single base substitution C T intron_variant MELA-AU 5 137006912 137006912 single base substitution G A downstream_gene_variant MELA-AU 5 137006912 137006912 single base substitution G A intron_variant MELA-AU 5 137006928 137006928 single base substitution C T downstream_gene_variant MELA-AU 5 137006928 137006928 single base substitution C T intron_variant MELA-AU 5 137007659 137007659 single base substitution G T downstream_gene_variant MELA-AU 5 137007659 137007659 single base substitution G T intron_variant MELA-AU 5 137008040 137008040 single base substitution G A downstream_gene_variant MELA-AU 5 137008040 137008040 single base substitution G A intron_variant MELA-AU 5 137008179 137008179 single base substitution C T downstream_gene_variant MELA-AU 5 137008179 137008179 single base substitution C T intron_variant MELA-AU 5 137008238 137008238 single base substitution A G downstream_gene_variant MELA-AU 5 137008238 137008238 single base substitution A G intron_variant MELA-AU 5 137008433 137008433 single base substitution G A downstream_gene_variant MELA-AU 5 137008433 137008433 single base substitution G A exon_variant MELA-AU 5 137008433 137008433 single base substitution G A intron_variant MELA-AU 5 137009455 137009455 single base substitution G A downstream_gene_variant MELA-AU 5 137009455 137009455 single base substitution G A exon_variant MELA-AU 5 137009455 137009455 single base substitution G A intron_variant MELA-AU 5 137009455 137009455 single base substitution G A upstream_gene_variant MELA-AU 5 137009921 137009921 single base substitution C T downstream_gene_variant MELA-AU 5 137009921 137009921 single base substitution C T intron_variant MELA-AU 5 137009921 137009921 single base substitution C T upstream_gene_variant MELA-AU 5 137010595 137010595 single base substitution G A downstream_gene_variant MELA-AU 5 137010595 137010595 single base substitution G A intron_variant MELA-AU 5 137010595 137010595 single base substitution G A upstream_gene_variant MELA-AU 5 137010621 137010621 single base substitution C T downstream_gene_variant MELA-AU 5 137010621 137010621 single base substitution C T intron_variant MELA-AU 5 137010621 137010621 single base substitution C T upstream_gene_variant MELA-AU 5 137010791 137010791 single base substitution G A downstream_gene_variant MELA-AU 5 137010791 137010791 single base substitution G A intron_variant MELA-AU 5 137010791 137010791 single base substitution G A upstream_gene_variant MELA-AU 5 137010805 137010805 single base substitution A G downstream_gene_variant MELA-AU 5 137010805 137010805 single base substitution A G intron_variant MELA-AU 5 137010805 137010805 single base substitution A G upstream_gene_variant MELA-AU 5 137010838 137010838 single base substitution A G downstream_gene_variant MELA-AU 5 137010838 137010838 single base substitution A G intron_variant MELA-AU 5 137010838 137010838 single base substitution A G upstream_gene_variant MELA-AU 5 137011729 137011729 single base substitution C T downstream_gene_variant MELA-AU 5 137011729 137011729 single base substitution C T intron_variant MELA-AU 5 137011729 137011729 single base substitution C T upstream_gene_variant MELA-AU 5 137011832 137011832 single base substitution G A downstream_gene_variant MELA-AU 5 137011832 137011832 single base substitution G A intron_variant MELA-AU 5 137011832 137011832 single base substitution G A upstream_gene_variant MELA-AU 5 137011893 137011893 single base substitution A T downstream_gene_variant MELA-AU 5 137011893 137011893 single base substitution A T intron_variant MELA-AU 5 137011893 137011893 single base substitution A T upstream_gene_variant MELA-AU 5 137012174 137012174 single base substitution C T downstream_gene_variant MELA-AU 5 137012174 137012174 single base substitution C T intron_variant MELA-AU 5 137012174 137012174 single base substitution C T upstream_gene_variant MELA-AU 5 137012341 137012341 single base substitution C T downstream_gene_variant MELA-AU 5 137012341 137012341 single base substitution C T intron_variant MELA-AU 5 137012341 137012341 single base substitution C T upstream_gene_variant MELA-AU 5 137012566 137012566 single base substitution G A downstream_gene_variant MELA-AU 5 137012566 137012566 single base substitution G A intron_variant MELA-AU 5 137012566 137012566 single base substitution G A upstream_gene_variant MELA-AU 5 137012576 137012576 single base substitution C T downstream_gene_variant MELA-AU 5 137012576 137012576 single base substitution C T intron_variant MELA-AU 5 137012576 137012576 single base substitution C T upstream_gene_variant MELA-AU 5 137012845 137012845 single base substitution G A downstream_gene_variant MELA-AU 5 137012845 137012845 single base substitution G A intron_variant MELA-AU 5 137012845 137012845 single base substitution G A upstream_gene_variant MELA-AU 5 137013019 137013019 single base substitution C T downstream_gene_variant MELA-AU 5 137013019 137013019 single base substitution C T intron_variant MELA-AU 5 137013019 137013019 single base substitution C T upstream_gene_variant MELA-AU 5 137013168 137013168 single base substitution C T intron_variant MELA-AU 5 137013168 137013168 single base substitution C T upstream_gene_variant MELA-AU 5 137013244 137013244 single base substitution G A 3_prime_UTR_variant MELA-AU 5 137013244 137013244 single base substitution G A exon_variant MELA-AU 5 137013244 137013244 single base substitution G A missense_variant S127L 380C>T MELA-AU 5 137013244 137013244 single base substitution G A missense_variant S169L 506C>T MELA-AU 5 137013244 137013244 single base substitution G A missense_variant S177L 530C>T MELA-AU 5 137013244 137013244 single base substitution G A missense_variant S209L 626C>T MELA-AU 5 137013244 137013244 single base substitution G A missense_variant S89L 266C>T MELA-AU 5 137013244 137013244 single base substitution G A upstream_gene_variant MELA-AU 5 137013414 137013414 single base substitution C T intron_variant MELA-AU 5 137013414 137013414 single base substitution C T upstream_gene_variant MELA-AU 5 137013937 137013937 single base substitution C T intron_variant MELA-AU 5 137013937 137013937 single base substitution C T upstream_gene_variant MELA-AU 5 137014023 137014023 single base substitution C G intron_variant MELA-AU 5 137014023 137014023 single base substitution C G upstream_gene_variant MELA-AU 5 137014045 137014045 single base substitution G A intron_variant MELA-AU 5 137014045 137014045 single base substitution G A upstream_gene_variant MELA-AU 5 137014279 137014279 single base substitution G A intron_variant MELA-AU 5 137014279 137014279 single base substitution G A upstream_gene_variant MELA-AU 5 137014337 137014337 single base substitution G A intron_variant MELA-AU 5 137014337 137014337 single base substitution G A upstream_gene_variant MELA-AU 5 137014643 137014643 single base substitution G A intron_variant MELA-AU 5 137014746 137014746 single base substitution C T intron_variant MELA-AU 5 137015171 137015171 single base substitution G A intron_variant MELA-AU 5 137015332 137015332 single base substitution G A intron_variant MELA-AU 5 137015371 137015371 single base substitution A G intron_variant MELA-AU 5 137015424 137015425 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 137015978 137015978 single base substitution G A intron_variant MELA-AU 5 137016380 137016380 single base substitution C T intron_variant MELA-AU 5 137016608 137016608 single base substitution A T intron_variant MELA-AU 5 137016908 137016908 single base substitution G A intron_variant MELA-AU 5 137017304 137017304 single base substitution G A intron_variant MELA-AU 5 137017309 137017309 single base substitution G A intron_variant MELA-AU 5 137017396 137017396 single base substitution C T intron_variant MELA-AU 5 137017614 137017614 single base substitution G A intron_variant MELA-AU 5 137018165 137018165 single base substitution G A intron_variant MELA-AU 5 137018737 137018737 single base substitution G A intron_variant MELA-AU 5 137018751 137018751 single base substitution T A intron_variant MELA-AU 5 137018866 137018866 single base substitution G A intron_variant MELA-AU 5 137018914 137018914 single base substitution C T intron_variant MELA-AU 5 137019092 137019092 single base substitution G A intron_variant MELA-AU 5 137019165 137019165 single base substitution C T intron_variant MELA-AU 5 137019193 137019193 single base substitution C T intron_variant MELA-AU 5 137019240 137019240 single base substitution G A intron_variant MELA-AU 5 137019374 137019374 single base substitution C T intron_variant MELA-AU 5 137019378 137019378 single base substitution C T intron_variant MELA-AU 5 137019419 137019419 single base substitution C T intron_variant MELA-AU 5 137019471 137019471 single base substitution T A intron_variant MELA-AU 5 137019642 137019642 single base substitution A C intron_variant MELA-AU 5 137019685 137019685 single base substitution C T intron_variant MELA-AU 5 137020065 137020065 single base substitution G A intron_variant MELA-AU 5 137020540 137020540 single base substitution C T intron_variant MELA-AU 5 137020585 137020585 single base substitution T A intron_variant MELA-AU 5 137021012 137021012 single base substitution T C intron_variant MELA-AU 5 137021206 137021206 single base substitution G A intron_variant MELA-AU 5 137021534 137021534 single base substitution G A intron_variant MELA-AU 5 137021568 137021568 single base substitution G A intron_variant MELA-AU 5 137021569 137021569 single base substitution G A intron_variant MELA-AU 5 137021609 137021609 single base substitution G A intron_variant MELA-AU 5 137021624 137021624 single base substitution C T intron_variant MELA-AU 5 137022409 137022409 single base substitution G A intron_variant MELA-AU 5 137023845 137023845 single base substitution G A intron_variant MELA-AU 5 137023982 137023982 single base substitution G A intron_variant MELA-AU 5 137024068 137024068 single base substitution C T intron_variant MELA-AU 5 137024431 137024431 single base substitution C T intron_variant MELA-AU 5 137024517 137024517 single base substitution G A intron_variant MELA-AU 5 137024968 137024968 single base substitution C T intron_variant MELA-AU 5 137025362 137025363 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 137025631 137025631 single base substitution G A intron_variant MELA-AU 5 137026126 137026126 single base substitution G A intron_variant MELA-AU 5 137026156 137026156 single base substitution G A intron_variant MELA-AU 5 137026184 137026184 single base substitution G A intron_variant MELA-AU 5 137026822 137026822 single base substitution G A intron_variant MELA-AU 5 137026934 137026934 single base substitution T C intron_variant MELA-AU 5 137027002 137027002 single base substitution G A intron_variant MELA-AU 5 137027009 137027009 single base substitution G A intron_variant MELA-AU 5 137027104 137027104 single base substitution A T intron_variant MELA-AU 5 137027520 137027520 single base substitution G A intron_variant MELA-AU 5 137027529 137027529 single base substitution G A intron_variant MELA-AU 5 137027820 137027820 single base substitution C T intron_variant MELA-AU 5 137028377 137028377 single base substitution G A intron_variant MELA-AU 5 137028377 137028377 single base substitution G A upstream_gene_variant MELA-AU 5 137028417 137028417 single base substitution G A intron_variant MELA-AU 5 137028417 137028417 single base substitution G A upstream_gene_variant MELA-AU 5 137028818 137028818 single base substitution G A intron_variant MELA-AU 5 137028818 137028818 single base substitution G A upstream_gene_variant MELA-AU 5 137029979 137029979 single base substitution G A intron_variant MELA-AU 5 137029979 137029979 single base substitution G A upstream_gene_variant MELA-AU 5 137030322 137030322 single base substitution C T intron_variant MELA-AU 5 137030322 137030322 single base substitution C T upstream_gene_variant MELA-AU 5 137030348 137030348 single base substitution C A intron_variant MELA-AU 5 137030348 137030348 single base substitution C A upstream_gene_variant MELA-AU 5 137030391 137030391 single base substitution C T intron_variant MELA-AU 5 137030391 137030391 single base substitution C T upstream_gene_variant MELA-AU 5 137030472 137030472 single base substitution G A intron_variant MELA-AU 5 137030472 137030472 single base substitution G A upstream_gene_variant MELA-AU 5 137030713 137030713 single base substitution A G intron_variant MELA-AU 5 137030713 137030713 single base substitution A G upstream_gene_variant MELA-AU 5 137030761 137030761 single base substitution C T intron_variant MELA-AU 5 137030761 137030761 single base substitution C T upstream_gene_variant MELA-AU 5 137031103 137031103 single base substitution G A intron_variant MELA-AU 5 137031103 137031103 single base substitution G A upstream_gene_variant MELA-AU 5 137031113 137031113 single base substitution T C intron_variant MELA-AU 5 137031113 137031113 single base substitution T C upstream_gene_variant MELA-AU 5 137031284 137031284 single base substitution G A intron_variant MELA-AU 5 137031284 137031284 single base substitution G A upstream_gene_variant MELA-AU 5 137031551 137031551 single base substitution G A intron_variant MELA-AU 5 137031551 137031551 single base substitution G A upstream_gene_variant MELA-AU 5 137031809 137031809 single base substitution C T intron_variant MELA-AU 5 137031809 137031809 single base substitution C T upstream_gene_variant MELA-AU 5 137031927 137031928 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 137031927 137031928 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 137032015 137032015 single base substitution G A intron_variant MELA-AU 5 137032015 137032015 single base substitution G A upstream_gene_variant MELA-AU 5 137032698 137032698 single base substitution G A intron_variant MELA-AU 5 137032698 137032698 single base substitution G A upstream_gene_variant MELA-AU 5 137032754 137032754 single base substitution C T intron_variant MELA-AU 5 137032754 137032754 single base substitution C T upstream_gene_variant MELA-AU 5 137033073 137033073 single base substitution G A intron_variant MELA-AU 5 137033073 137033073 single base substitution G A upstream_gene_variant MELA-AU 5 137033264 137033264 single base substitution G A intron_variant MELA-AU 5 137033264 137033264 single base substitution G A upstream_gene_variant MELA-AU 5 137033699 137033699 single base substitution G C intron_variant MELA-AU 5 137034292 137034292 single base substitution C T intron_variant MELA-AU 5 137034292 137034292 single base substitution C T upstream_gene_variant MELA-AU 5 137034504 137034504 single base substitution G T intron_variant MELA-AU 5 137034504 137034504 single base substitution G T upstream_gene_variant MELA-AU 5 137034936 137034936 single base substitution G A intron_variant MELA-AU 5 137034936 137034936 single base substitution G A upstream_gene_variant MELA-AU 5 137035151 137035151 single base substitution G A intron_variant MELA-AU 5 137035151 137035151 single base substitution G A upstream_gene_variant MELA-AU 5 137035168 137035168 single base substitution G A intron_variant MELA-AU 5 137035168 137035168 single base substitution G A upstream_gene_variant MELA-AU 5 137035513 137035513 single base substitution G A intron_variant MELA-AU 5 137035513 137035513 single base substitution G A upstream_gene_variant MELA-AU 5 137035661 137035661 single base substitution G A intron_variant MELA-AU 5 137035661 137035661 single base substitution G A upstream_gene_variant MELA-AU 5 137035663 137035663 single base substitution G A intron_variant MELA-AU 5 137035663 137035663 single base substitution G A upstream_gene_variant MELA-AU 5 137035695 137035695 single base substitution C T intron_variant MELA-AU 5 137035695 137035695 single base substitution C T upstream_gene_variant MELA-AU 5 137035724 137035724 single base substitution G A intron_variant MELA-AU 5 137035724 137035724 single base substitution G A upstream_gene_variant MELA-AU 5 137035757 137035757 single base substitution C T intron_variant MELA-AU 5 137035757 137035757 single base substitution C T upstream_gene_variant MELA-AU 5 137035800 137035800 single base substitution C T intron_variant MELA-AU 5 137035800 137035800 single base substitution C T upstream_gene_variant MELA-AU 5 137036248 137036248 single base substitution C T intron_variant MELA-AU 5 137036248 137036248 single base substitution C T upstream_gene_variant MELA-AU 5 137036261 137036261 single base substitution G A intron_variant MELA-AU 5 137036261 137036261 single base substitution G A upstream_gene_variant MELA-AU 5 137036332 137036332 single base substitution T C intron_variant MELA-AU 5 137036332 137036332 single base substitution T C upstream_gene_variant MELA-AU 5 137036535 137036535 single base substitution C T intron_variant MELA-AU 5 137036535 137036535 single base substitution C T upstream_gene_variant MELA-AU 5 137036986 137036986 single base substitution C T downstream_gene_variant MELA-AU 5 137036986 137036986 single base substitution C T intron_variant MELA-AU 5 137036986 137036986 single base substitution C T upstream_gene_variant MELA-AU 5 137037084 137037084 single base substitution G A downstream_gene_variant MELA-AU 5 137037084 137037084 single base substitution G A intron_variant MELA-AU 5 137037084 137037084 single base substitution G A upstream_gene_variant MELA-AU 5 137037373 137037373 single base substitution G A downstream_gene_variant MELA-AU 5 137037373 137037373 single base substitution G A intron_variant MELA-AU 5 137037373 137037373 single base substitution G A upstream_gene_variant MELA-AU 5 137037868 137037868 single base substitution G A downstream_gene_variant MELA-AU 5 137037868 137037868 single base substitution G A intron_variant MELA-AU 5 137037868 137037868 single base substitution G A upstream_gene_variant MELA-AU 5 137038135 137038135 single base substitution G T downstream_gene_variant MELA-AU 5 137038135 137038135 single base substitution G T intron_variant MELA-AU 5 137038135 137038135 single base substitution G T upstream_gene_variant MELA-AU 5 137038150 137038150 single base substitution C T downstream_gene_variant MELA-AU 5 137038150 137038150 single base substitution C T intron_variant MELA-AU 5 137038150 137038150 single base substitution C T upstream_gene_variant MELA-AU 5 137038173 137038173 single base substitution G A downstream_gene_variant MELA-AU 5 137038173 137038173 single base substitution G A intron_variant MELA-AU 5 137038173 137038173 single base substitution G A upstream_gene_variant MELA-AU 5 137038485 137038485 single base substitution G A downstream_gene_variant MELA-AU 5 137038485 137038485 single base substitution G A intron_variant MELA-AU 5 137038485 137038485 single base substitution G A upstream_gene_variant MELA-AU 5 137038540 137038540 single base substitution C T downstream_gene_variant MELA-AU 5 137038540 137038540 single base substitution C T intron_variant MELA-AU 5 137038540 137038540 single base substitution C T upstream_gene_variant MELA-AU 5 137038772 137038772 single base substitution G A downstream_gene_variant MELA-AU 5 137038772 137038772 single base substitution G A intron_variant MELA-AU 5 137038772 137038772 single base substitution G A upstream_gene_variant MELA-AU 5 137038836 137038836 single base substitution C T downstream_gene_variant MELA-AU 5 137038836 137038836 single base substitution C T intron_variant MELA-AU 5 137038836 137038836 single base substitution C T upstream_gene_variant MELA-AU 5 137038871 137038871 single base substitution G A downstream_gene_variant MELA-AU 5 137038871 137038871 single base substitution G A intron_variant MELA-AU 5 137038871 137038871 single base substitution G A upstream_gene_variant MELA-AU 5 137038904 137038904 single base substitution C T downstream_gene_variant MELA-AU 5 137038904 137038904 single base substitution C T intron_variant MELA-AU 5 137038904 137038904 single base substitution C T upstream_gene_variant MELA-AU 5 137039209 137039209 single base substitution G A downstream_gene_variant MELA-AU 5 137039209 137039209 single base substitution G A intron_variant MELA-AU 5 137039454 137039454 single base substitution C T downstream_gene_variant MELA-AU 5 137039454 137039454 single base substitution C T intron_variant MELA-AU 5 137039766 137039766 single base substitution A G downstream_gene_variant MELA-AU 5 137039766 137039766 single base substitution A G intron_variant MELA-AU 5 137039781 137039781 single base substitution C T downstream_gene_variant MELA-AU 5 137039781 137039781 single base substitution C T intron_variant MELA-AU 5 137040304 137040304 single base substitution C T downstream_gene_variant MELA-AU 5 137040304 137040304 single base substitution C T intron_variant MELA-AU 5 137040739 137040739 single base substitution G A downstream_gene_variant MELA-AU 5 137040739 137040739 single base substitution G A intron_variant MELA-AU 5 137040842 137040842 single base substitution C T downstream_gene_variant MELA-AU 5 137040842 137040842 single base substitution C T intron_variant MELA-AU 5 137040843 137040843 single base substitution T A downstream_gene_variant MELA-AU 5 137040843 137040843 single base substitution T A intron_variant MELA-AU 5 137040960 137040961 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 5 137040960 137040961 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 137041049 137041049 single base substitution C T downstream_gene_variant MELA-AU 5 137041049 137041049 single base substitution C T intron_variant MELA-AU 5 137041293 137041294 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 5 137041293 137041294 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 137041536 137041536 single base substitution G A downstream_gene_variant MELA-AU 5 137041536 137041536 single base substitution G A intron_variant MELA-AU 5 137042346 137042346 single base substitution A G intron_variant MELA-AU 5 137042346 137042346 single base substitution A G upstream_gene_variant MELA-AU 5 137042433 137042433 single base substitution C T intron_variant MELA-AU 5 137042433 137042433 single base substitution C T upstream_gene_variant MELA-AU 5 137042492 137042492 single base substitution G A intron_variant MELA-AU 5 137042492 137042492 single base substitution G A upstream_gene_variant MELA-AU 5 137042552 137042552 single base substitution G A intron_variant MELA-AU 5 137042552 137042552 single base substitution G A upstream_gene_variant MELA-AU 5 137042591 137042591 single base substitution G A intron_variant MELA-AU 5 137042591 137042591 single base substitution G A upstream_gene_variant MELA-AU 5 137042740 137042740 single base substitution G A intron_variant MELA-AU 5 137042740 137042740 single base substitution G A upstream_gene_variant MELA-AU 5 137042747 137042747 single base substitution C T intron_variant MELA-AU 5 137042747 137042747 single base substitution C T upstream_gene_variant MELA-AU 5 137042796 137042796 single base substitution G A intron_variant MELA-AU 5 137042796 137042796 single base substitution G A upstream_gene_variant MELA-AU 5 137043727 137043727 single base substitution G A intron_variant MELA-AU 5 137043727 137043727 single base substitution G A upstream_gene_variant MELA-AU 5 137043784 137043784 single base substitution A C intron_variant MELA-AU 5 137043784 137043784 single base substitution A C upstream_gene_variant MELA-AU 5 137044164 137044164 single base substitution C T intron_variant MELA-AU 5 137044164 137044164 single base substitution C T upstream_gene_variant MELA-AU 5 137044223 137044223 single base substitution A T intron_variant MELA-AU 5 137044223 137044223 single base substitution A T upstream_gene_variant MELA-AU 5 137044362 137044362 single base substitution C T intron_variant MELA-AU 5 137044362 137044362 single base substitution C T upstream_gene_variant MELA-AU 5 137044382 137044382 single base substitution G A intron_variant MELA-AU 5 137044382 137044382 single base substitution G A upstream_gene_variant MELA-AU 5 137044405 137044405 single base substitution G A intron_variant MELA-AU 5 137044405 137044405 single base substitution G A upstream_gene_variant MELA-AU 5 137044461 137044461 single base substitution G A intron_variant MELA-AU 5 137044461 137044461 single base substitution G A upstream_gene_variant MELA-AU 5 137044605 137044605 single base substitution G A intron_variant MELA-AU 5 137044605 137044605 single base substitution G A upstream_gene_variant MELA-AU 5 137044635 137044635 single base substitution A G intron_variant MELA-AU 5 137044635 137044635 single base substitution A G upstream_gene_variant MELA-AU 5 137045428 137045428 single base substitution A C intron_variant MELA-AU 5 137045428 137045428 single base substitution A C upstream_gene_variant MELA-AU 5 137045508 137045508 single base substitution C T exon_variant MELA-AU 5 137045508 137045508 single base substitution C T missense_variant D18N 52G>A MELA-AU 5 137045508 137045508 single base substitution C T missense_variant D26N 76G>A MELA-AU 5 137045508 137045508 single base substitution C T missense_variant D58N 172G>A MELA-AU 5 137045508 137045508 single base substitution C T upstream_gene_variant MELA-AU 5 137045665 137045665 single base substitution G A intron_variant MELA-AU 5 137045665 137045665 single base substitution G A upstream_gene_variant MELA-AU 5 137045715 137045715 single base substitution C T intron_variant MELA-AU 5 137045715 137045715 single base substitution C T upstream_gene_variant MELA-AU 5 137045836 137045836 single base substitution C T intron_variant MELA-AU 5 137045836 137045836 single base substitution C T upstream_gene_variant MELA-AU 5 137046185 137046185 single base substitution G A intron_variant MELA-AU 5 137046185 137046185 single base substitution G A upstream_gene_variant MELA-AU 5 137046602 137046602 single base substitution G A intron_variant MELA-AU 5 137046602 137046602 single base substitution G A upstream_gene_variant MELA-AU 5 137046775 137046775 single base substitution T C intron_variant MELA-AU 5 137046775 137046775 single base substitution T C upstream_gene_variant MELA-AU 5 137047026 137047026 single base substitution G A intron_variant MELA-AU 5 137047026 137047026 single base substitution G A upstream_gene_variant MELA-AU 5 137047059 137047059 single base substitution T C intron_variant MELA-AU 5 137047059 137047059 single base substitution T C upstream_gene_variant MELA-AU 5 137047099 137047099 single base substitution C T intron_variant MELA-AU 5 137047099 137047099 single base substitution C T upstream_gene_variant MELA-AU 5 137047424 137047424 single base substitution G A intron_variant MELA-AU 5 137047474 137047474 single base substitution C T intron_variant MELA-AU 5 137048146 137048146 single base substitution G A intron_variant MELA-AU 5 137048197 137048197 single base substitution G A intron_variant MELA-AU 5 137048326 137048326 single base substitution G A intron_variant MELA-AU 5 137048366 137048366 single base substitution G A intron_variant MELA-AU 5 137048945 137048945 single base substitution G A intron_variant MELA-AU 5 137049096 137049096 single base substitution G A intron_variant MELA-AU 5 137049179 137049179 single base substitution G A intron_variant MELA-AU 5 137049371 137049371 single base substitution A C intron_variant MELA-AU 5 137049433 137049433 single base substitution C T intron_variant MELA-AU 5 137049434 137049434 single base substitution C T intron_variant MELA-AU 5 137049926 137049926 single base substitution G A intron_variant MELA-AU 5 137050141 137050141 single base substitution C A intron_variant MELA-AU 5 137050992 137050992 single base substitution G A intron_variant MELA-AU 5 137050999 137050999 single base substitution G A intron_variant MELA-AU 5 137051123 137051123 single base substitution C T intron_variant MELA-AU 5 137051280 137051280 single base substitution G A intron_variant MELA-AU 5 137051611 137051611 single base substitution A C intron_variant MELA-AU 5 137052103 137052103 single base substitution T C intron_variant MELA-AU 5 137053124 137053124 single base substitution G A intron_variant MELA-AU 5 137053333 137053333 single base substitution G T intron_variant MELA-AU 5 137053391 137053391 single base substitution G A intron_variant MELA-AU 5 137053463 137053463 single base substitution G A intron_variant MELA-AU 5 137053640 137053640 single base substitution C T intron_variant MELA-AU 5 137053854 137053854 single base substitution G A intron_variant MELA-AU 5 137054134 137054134 single base substitution C T intron_variant MELA-AU 5 137054374 137054374 single base substitution G A intron_variant MELA-AU 5 137054409 137054409 single base substitution G A intron_variant MELA-AU 5 137054592 137054592 single base substitution G A intron_variant MELA-AU 5 137054864 137054864 single base substitution C T intron_variant MELA-AU 5 137055050 137055050 single base substitution G A intron_variant MELA-AU 5 137055108 137055108 single base substitution A G intron_variant MELA-AU 5 137055315 137055315 single base substitution G C intron_variant MELA-AU 5 137055915 137055915 single base substitution G A intron_variant MELA-AU 5 137057022 137057022 single base substitution G A intron_variant MELA-AU 5 137057022 137057022 single base substitution G A upstream_gene_variant MELA-AU 5 137057212 137057212 single base substitution G A intron_variant MELA-AU 5 137057212 137057212 single base substitution G A upstream_gene_variant MELA-AU 5 137057233 137057233 single base substitution G A intron_variant MELA-AU 5 137057233 137057233 single base substitution G A upstream_gene_variant MELA-AU 5 137057345 137057345 single base substitution G A intron_variant MELA-AU 5 137057345 137057345 single base substitution G A upstream_gene_variant MELA-AU 5 137057462 137057462 single base substitution A G intron_variant MELA-AU 5 137057462 137057462 single base substitution A G upstream_gene_variant MELA-AU 5 137057604 137057604 single base substitution G A intron_variant MELA-AU 5 137057604 137057604 single base substitution G A upstream_gene_variant MELA-AU 5 137057736 137057736 single base substitution G A intron_variant MELA-AU 5 137057736 137057736 single base substitution G A upstream_gene_variant MELA-AU 5 137057913 137057913 single base substitution G A intron_variant MELA-AU 5 137057913 137057913 single base substitution G A upstream_gene_variant MELA-AU 5 137057982 137057982 single base substitution G A intron_variant MELA-AU 5 137057982 137057982 single base substitution G A upstream_gene_variant MELA-AU 5 137058167 137058167 single base substitution A C intron_variant MELA-AU 5 137058167 137058167 single base substitution A C upstream_gene_variant MELA-AU 5 137058197 137058197 single base substitution G A intron_variant MELA-AU 5 137058197 137058197 single base substitution G A upstream_gene_variant MELA-AU 5 137058221 137058221 single base substitution T G intron_variant MELA-AU 5 137058221 137058221 single base substitution T G upstream_gene_variant MELA-AU 5 137058796 137058796 single base substitution G A intron_variant MELA-AU 5 137058796 137058796 single base substitution G A upstream_gene_variant MELA-AU 5 137059002 137059002 single base substitution G A intron_variant MELA-AU 5 137059002 137059002 single base substitution G A upstream_gene_variant MELA-AU 5 137059004 137059004 single base substitution A G intron_variant MELA-AU 5 137059004 137059004 single base substitution A G upstream_gene_variant MELA-AU 5 137059031 137059031 single base substitution T A intron_variant MELA-AU 5 137059031 137059031 single base substitution T A upstream_gene_variant MELA-AU 5 137059497 137059497 single base substitution A C intron_variant MELA-AU 5 137059497 137059497 single base substitution A C upstream_gene_variant MELA-AU 5 137059569 137059569 single base substitution G A intron_variant MELA-AU 5 137059569 137059569 single base substitution G A upstream_gene_variant MELA-AU 5 137059921 137059921 single base substitution G A intron_variant MELA-AU 5 137059921 137059921 single base substitution G A upstream_gene_variant MELA-AU 5 137059967 137059967 single base substitution G A intron_variant MELA-AU 5 137059967 137059967 single base substitution G A upstream_gene_variant MELA-AU 5 137060041 137060041 single base substitution A C intron_variant MELA-AU 5 137060041 137060041 single base substitution A C upstream_gene_variant MELA-AU 5 137061637 137061638 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 137061637 137061638 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 137061842 137061842 single base substitution G A intron_variant MELA-AU 5 137061842 137061842 single base substitution G A upstream_gene_variant MELA-AU 5 137061889 137061889 single base substitution C T intron_variant MELA-AU 5 137061889 137061889 single base substitution C T upstream_gene_variant MELA-AU 5 137062096 137062096 single base substitution G A intron_variant MELA-AU 5 137062198 137062198 single base substitution G A intron_variant MELA-AU 5 137062989 137062990 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 137063421 137063421 single base substitution G A intron_variant MELA-AU 5 137063540 137063540 single base substitution T C intron_variant MELA-AU 5 137063557 137063557 single base substitution G A intron_variant MELA-AU 5 137064234 137064234 single base substitution G A intron_variant MELA-AU 5 137064405 137064405 single base substitution C T intron_variant MELA-AU 5 137064781 137064781 single base substitution G A intron_variant MELA-AU 5 137064864 137064864 single base substitution C T intron_variant MELA-AU 5 137065495 137065495 single base substitution C T intron_variant MELA-AU 5 137065549 137065549 single base substitution G A intron_variant MELA-AU 5 137065796 137065796 single base substitution G A intron_variant MELA-AU 5 137065841 137065841 single base substitution C A intron_variant MELA-AU 5 137065997 137065997 single base substitution C T intron_variant MELA-AU 5 137066173 137066173 single base substitution A G intron_variant MELA-AU 5 137068176 137068176 single base substitution G A intron_variant MELA-AU 5 137068349 137068349 single base substitution A G intron_variant MELA-AU 5 137068543 137068543 single base substitution T G intron_variant MELA-AU 5 137068592 137068592 single base substitution G A intron_variant MELA-AU 5 137068730 137068730 single base substitution C T intron_variant MELA-AU 5 137068854 137068854 single base substitution G T intron_variant MELA-AU 5 137069270 137069270 single base substitution C T intron_variant MELA-AU 5 137070255 137070255 single base substitution G A intron_variant MELA-AU 5 137070801 137070801 single base substitution T A intron_variant MELA-AU 5 137070828 137070828 single base substitution C T intron_variant MELA-AU 5 137071595 137071595 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 5 137071595 137071595 single base substitution A G upstream_gene_variant MELA-AU 5 137071664 137071664 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 5 137071664 137071664 single base substitution G A upstream_gene_variant MELA-AU 5 137071884 137071884 single base substitution C T upstream_gene_variant MELA-AU 5 137072709 137072709 single base substitution C T upstream_gene_variant MELA-AU 5 137072934 137072934 single base substitution C T upstream_gene_variant MELA-AU 5 137073470 137073470 single base substitution G A upstream_gene_variant MELA-AU 5 137073566 137073566 single base substitution C T upstream_gene_variant MELA-AU 5 137073721 137073721 single base substitution T C upstream_gene_variant MELA-AU 5 137074428 137074428 single base substitution G A upstream_gene_variant MELA-AU 5 137075038 137075038 single base substitution A G upstream_gene_variant MELA-AU 5 137075243 137075243 single base substitution C T upstream_gene_variant MELA-AU 5 137075656 137075656 single base substitution C T upstream_gene_variant MELA-AU 5 137075918 137075918 single base substitution C T upstream_gene_variant MELA-AU 5 137076067 137076067 single base substitution C T upstream_gene_variant MELA-AU 5 137076196 137076196 single base substitution G A upstream_gene_variant MELA-AU 5 137076224 137076224 single base substitution G A upstream_gene_variant MELA-AU 5 137076373 137076373 single base substitution G A upstream_gene_variant MELA-AU 5 137076392 137076392 single base substitution G A upstream_gene_variant MELA-AU 5 137076407 137076407 single base substitution G A upstream_gene_variant MELA-AU 5 137076475 137076475 single base substitution C T upstream_gene_variant ORCA-IN 5 136961326 136961326 single base substitution C T intron_variant ORCA-IN 5 136997601 136997601 single base substitution C T exon_variant ORCA-IN 5 136997601 136997601 single base substitution C T splice_region_variant ORCA-IN 5 137018096 137018096 single base substitution G T intron_variant ORCA-IN 5 137024153 137024153 single base substitution C T intron_variant ORCA-IN 5 137025653 137025653 single base substitution A T intron_variant ORCA-IN 5 137038993 137038993 single base substitution G A downstream_gene_variant ORCA-IN 5 137038993 137038993 single base substitution G A intron_variant ORCA-IN 5 137038993 137038993 single base substitution G A upstream_gene_variant ORCA-IN 5 137049083 137049083 single base substitution G A intron_variant ORCA-IN 5 137050417 137050418 deletion of <=200bp TG - intron_variant ORCA-IN 5 137072016 137072016 single base substitution A G upstream_gene_variant OV-AU 5 136949613 136949613 single base substitution A G downstream_gene_variant OV-AU 5 136954092 136954092 single base substitution G C 3_prime_UTR_variant OV-AU 5 136954092 136954092 single base substitution G C downstream_gene_variant OV-AU 5 136954092 136954092 single base substitution G C intron_variant OV-AU 5 136960350 136960350 single base substitution G C intron_variant OV-AU 5 136964776 136964776 single base substitution T C downstream_gene_variant OV-AU 5 136964776 136964776 single base substitution T C exon_variant OV-AU 5 136964776 136964776 single base substitution T C intron_variant OV-AU 5 136964776 136964776 single base substitution T C upstream_gene_variant OV-AU 5 136966320 136966320 single base substitution G T downstream_gene_variant OV-AU 5 136966320 136966320 single base substitution G T intron_variant OV-AU 5 136966320 136966320 single base substitution G T upstream_gene_variant OV-AU 5 136967248 136967248 single base substitution G C downstream_gene_variant OV-AU 5 136967248 136967248 single base substitution G C intron_variant OV-AU 5 136967248 136967248 single base substitution G C upstream_gene_variant OV-AU 5 136969122 136969122 single base substitution A T downstream_gene_variant OV-AU 5 136969122 136969122 single base substitution A T intron_variant OV-AU 5 136969122 136969122 single base substitution A T upstream_gene_variant OV-AU 5 136971295 136971295 single base substitution G A downstream_gene_variant OV-AU 5 136971295 136971295 single base substitution G A intron_variant OV-AU 5 136980167 136980167 single base substitution C T intron_variant OV-AU 5 136981756 136981756 single base substitution G A intron_variant OV-AU 5 136985591 136985591 single base substitution A C downstream_gene_variant OV-AU 5 136985591 136985591 single base substitution A C intron_variant OV-AU 5 136988221 136988221 single base substitution G T downstream_gene_variant OV-AU 5 136988221 136988221 single base substitution G T intron_variant OV-AU 5 136989172 136989172 single base substitution G C intron_variant OV-AU 5 136989967 136989967 single base substitution T C intron_variant OV-AU 5 136999298 136999298 single base substitution G T intron_variant OV-AU 5 137001942 137001942 single base substitution G T intron_variant OV-AU 5 137002623 137002623 single base substitution C G downstream_gene_variant OV-AU 5 137002623 137002623 single base substitution C G intron_variant OV-AU 5 137008825 137008825 single base substitution C A downstream_gene_variant OV-AU 5 137008825 137008825 single base substitution C A intron_variant OV-AU 5 137008825 137008825 single base substitution C A upstream_gene_variant OV-AU 5 137012026 137012026 single base substitution C T downstream_gene_variant OV-AU 5 137012026 137012026 single base substitution C T intron_variant OV-AU 5 137012026 137012026 single base substitution C T upstream_gene_variant OV-AU 5 137013740 137013740 single base substitution C G intron_variant OV-AU 5 137013740 137013740 single base substitution C G upstream_gene_variant OV-AU 5 137013962 137013962 single base substitution G A intron_variant OV-AU 5 137013962 137013962 single base substitution G A upstream_gene_variant OV-AU 5 137015007 137015007 single base substitution T C intron_variant OV-AU 5 137023995 137023995 single base substitution G C intron_variant OV-AU 5 137024723 137024723 single base substitution A T intron_variant OV-AU 5 137027744 137027744 single base substitution T C intron_variant OV-AU 5 137030296 137030296 single base substitution A T intron_variant OV-AU 5 137030296 137030296 single base substitution A T upstream_gene_variant OV-AU 5 137034968 137034968 single base substitution A T intron_variant OV-AU 5 137034968 137034968 single base substitution A T upstream_gene_variant OV-AU 5 137036623 137036623 single base substitution A G intron_variant OV-AU 5 137036623 137036623 single base substitution A G upstream_gene_variant OV-AU 5 137037162 137037162 single base substitution T A downstream_gene_variant OV-AU 5 137037162 137037162 single base substitution T A intron_variant OV-AU 5 137037162 137037162 single base substitution T A upstream_gene_variant OV-AU 5 137042090 137042090 single base substitution A G 5_prime_UTR_variant OV-AU 5 137042090 137042090 single base substitution A G intron_variant OV-AU 5 137042090 137042090 single base substitution A G upstream_gene_variant OV-AU 5 137046320 137046320 single base substitution C T intron_variant OV-AU 5 137046320 137046320 single base substitution C T upstream_gene_variant OV-AU 5 137048336 137048336 single base substitution T A intron_variant OV-AU 5 137048505 137048505 single base substitution A G intron_variant OV-AU 5 137053460 137053460 single base substitution A G intron_variant OV-AU 5 137062741 137062741 single base substitution T C intron_variant OV-AU 5 137065974 137065974 single base substitution C A intron_variant OV-AU 5 137066329 137066329 single base substitution G C intron_variant OV-AU 5 137066330 137066330 single base substitution G T intron_variant OV-AU 5 137067596 137067596 single base substitution T C intron_variant OV-AU 5 137071179 137071179 single base substitution G C intron_variant PACA-AU 5 136966621 136966621 deletion of <=200bp A - downstream_gene_variant PACA-AU 5 136966621 136966621 deletion of <=200bp A - intron_variant PACA-AU 5 136966621 136966621 deletion of <=200bp A - upstream_gene_variant PACA-AU 5 136968315 136968315 single base substitution G A downstream_gene_variant PACA-AU 5 136968315 136968315 single base substitution G A intron_variant PACA-AU 5 136968315 136968315 single base substitution G A upstream_gene_variant PACA-AU 5 136978877 136978877 single base substitution A C intron_variant PACA-AU 5 136988946 136988946 single base substitution A T intron_variant PACA-AU 5 136994185 136994185 single base substitution C T downstream_gene_variant PACA-AU 5 136994185 136994185 single base substitution C T intron_variant PACA-AU 5 136999866 136999866 single base substitution C A intron_variant PACA-AU 5 137002429 137002429 single base substitution T C intron_variant PACA-AU 5 137002557 137002557 single base substitution C T downstream_gene_variant PACA-AU 5 137002557 137002557 single base substitution C T intron_variant PACA-AU 5 137005891 137005891 single base substitution G A downstream_gene_variant PACA-AU 5 137005891 137005891 single base substitution G A intron_variant PACA-AU 5 137008166 137008166 single base substitution G C downstream_gene_variant PACA-AU 5 137008166 137008166 single base substitution G C intron_variant PACA-AU 5 137008416 137008416 single base substitution A G downstream_gene_variant PACA-AU 5 137008416 137008416 single base substitution A G exon_variant PACA-AU 5 137008416 137008416 single base substitution A G intron_variant PACA-AU 5 137014429 137014429 single base substitution T C intron_variant PACA-AU 5 137014429 137014429 single base substitution T C upstream_gene_variant PACA-AU 5 137021027 137021027 single base substitution A C intron_variant PACA-AU 5 137026613 137026613 single base substitution G A intron_variant PACA-AU 5 137027832 137027832 single base substitution T C intron_variant PACA-AU 5 137029115 137029115 single base substitution A T intron_variant PACA-AU 5 137029115 137029115 single base substitution A T upstream_gene_variant PACA-AU 5 137032401 137032401 single base substitution C A intron_variant PACA-AU 5 137032401 137032401 single base substitution C A upstream_gene_variant PACA-AU 5 137035619 137035619 single base substitution A T intron_variant PACA-AU 5 137035619 137035619 single base substitution A T upstream_gene_variant PACA-AU 5 137038047 137038047 single base substitution G T downstream_gene_variant PACA-AU 5 137038047 137038047 single base substitution G T intron_variant PACA-AU 5 137038047 137038047 single base substitution G T upstream_gene_variant PACA-AU 5 137038452 137038452 single base substitution G A downstream_gene_variant PACA-AU 5 137038452 137038452 single base substitution G A intron_variant PACA-AU 5 137038452 137038452 single base substitution G A upstream_gene_variant PACA-AU 5 137039436 137039436 single base substitution C T downstream_gene_variant PACA-AU 5 137039436 137039436 single base substitution C T intron_variant PACA-AU 5 137042638 137042638 single base substitution G C intron_variant PACA-AU 5 137042638 137042638 single base substitution G C upstream_gene_variant PACA-AU 5 137045453 137045453 single base substitution C T exon_variant PACA-AU 5 137045453 137045453 single base substitution C T missense_variant C36Y 107G>A PACA-AU 5 137045453 137045453 single base substitution C T missense_variant C44Y 131G>A PACA-AU 5 137045453 137045453 single base substitution C T missense_variant C76Y 227G>A PACA-AU 5 137045453 137045453 single base substitution C T upstream_gene_variant PACA-AU 5 137059412 137059412 insertion of <=200bp - A intron_variant PACA-AU 5 137059412 137059412 insertion of <=200bp - A upstream_gene_variant PACA-AU 5 137059718 137059718 single base substitution G C intron_variant PACA-AU 5 137059718 137059718 single base substitution G C upstream_gene_variant PACA-AU 5 137062527 137062527 single base substitution G T intron_variant PACA-AU 5 137065959 137065959 single base substitution T C intron_variant PACA-AU 5 137067437 137067437 single base substitution A C intron_variant PACA-AU 5 137067901 137067901 single base substitution C A intron_variant PACA-AU 5 137073003 137073003 single base substitution A G upstream_gene_variant PACA-CA 5 136963538 136963538 single base substitution C T intron_variant PACA-CA 5 136965745 136965745 single base substitution A C downstream_gene_variant PACA-CA 5 136965745 136965745 single base substitution A C intron_variant PACA-CA 5 136965745 136965745 single base substitution A C upstream_gene_variant PACA-CA 5 136965746 136965746 single base substitution G T downstream_gene_variant PACA-CA 5 136965746 136965746 single base substitution G T intron_variant PACA-CA 5 136965746 136965746 single base substitution G T upstream_gene_variant PACA-CA 5 136967704 136967704 single base substitution C G downstream_gene_variant PACA-CA 5 136967704 136967704 single base substitution C G intron_variant PACA-CA 5 136967704 136967704 single base substitution C G upstream_gene_variant PACA-CA 5 136967890 136967890 single base substitution C A downstream_gene_variant PACA-CA 5 136967890 136967890 single base substitution C A intron_variant PACA-CA 5 136967890 136967890 single base substitution C A upstream_gene_variant PACA-CA 5 136967891 136967891 single base substitution C G downstream_gene_variant PACA-CA 5 136967891 136967891 single base substitution C G intron_variant PACA-CA 5 136967891 136967891 single base substitution C G upstream_gene_variant PACA-CA 5 136968125 136968125 single base substitution T A downstream_gene_variant PACA-CA 5 136968125 136968125 single base substitution T A intron_variant PACA-CA 5 136968125 136968125 single base substitution T A upstream_gene_variant PACA-CA 5 136968609 136968609 single base substitution C A downstream_gene_variant PACA-CA 5 136968609 136968609 single base substitution C A intron_variant PACA-CA 5 136968609 136968609 single base substitution C A upstream_gene_variant PACA-CA 5 136970547 136970547 single base substitution G A downstream_gene_variant PACA-CA 5 136970547 136970547 single base substitution G A intron_variant PACA-CA 5 136970547 136970547 single base substitution G A upstream_gene_variant PACA-CA 5 136974675 136974675 single base substitution G A exon_variant PACA-CA 5 136974675 136974675 single base substitution G A intron_variant PACA-CA 5 136974675 136974675 single base substitution G A missense_variant L314F 940C>T PACA-CA 5 136974675 136974675 single base substitution G A missense_variant L356F 1066C>T PACA-CA 5 136974675 136974675 single base substitution G A missense_variant L364F 1090C>T PACA-CA 5 136974675 136974675 single base substitution G A missense_variant L396F 1186C>T PACA-CA 5 136975626 136975626 single base substitution C T exon_variant PACA-CA 5 136975626 136975626 single base substitution C T intron_variant PACA-CA 5 136975626 136975626 single base substitution C T missense_variant R233H 698G>A PACA-CA 5 136975626 136975626 single base substitution C T missense_variant R275H 824G>A PACA-CA 5 136975626 136975626 single base substitution C T missense_variant R283H 848G>A PACA-CA 5 136975626 136975626 single base substitution C T missense_variant R315H 944G>A PACA-CA 5 136976019 136976019 single base substitution C A intron_variant PACA-CA 5 136979663 136979663 single base substitution C A intron_variant PACA-CA 5 136979851 136979851 single base substitution G A intron_variant PACA-CA 5 136981867 136981867 insertion of <=200bp - A intron_variant PACA-CA 5 136984908 136984908 single base substitution C T downstream_gene_variant PACA-CA 5 136984908 136984908 single base substitution C T intron_variant PACA-CA 5 136986139 136986139 single base substitution C T downstream_gene_variant PACA-CA 5 136986139 136986139 single base substitution C T intron_variant PACA-CA 5 136993340 136993340 deletion of <=200bp C - downstream_gene_variant PACA-CA 5 136993340 136993340 deletion of <=200bp C - intron_variant PACA-CA 5 136996530 136996530 single base substitution C T exon_variant PACA-CA 5 136996530 136996530 single base substitution C T intron_variant PACA-CA 5 136999744 136999744 single base substitution T A intron_variant PACA-CA 5 137001429 137001429 insertion of <=200bp - T intron_variant PACA-CA 5 137001430 137001430 deletion of <=200bp T - intron_variant PACA-CA 5 137008880 137008880 single base substitution A G downstream_gene_variant PACA-CA 5 137008880 137008880 single base substitution A G intron_variant PACA-CA 5 137008880 137008880 single base substitution A G upstream_gene_variant PACA-CA 5 137009190 137009190 single base substitution A G downstream_gene_variant PACA-CA 5 137009190 137009190 single base substitution A G intron_variant PACA-CA 5 137009190 137009190 single base substitution A G upstream_gene_variant PACA-CA 5 137017928 137017928 single base substitution C G intron_variant PACA-CA 5 137030404 137030404 single base substitution C G intron_variant PACA-CA 5 137030404 137030404 single base substitution C G upstream_gene_variant PACA-CA 5 137038614 137038614 single base substitution G A downstream_gene_variant PACA-CA 5 137038614 137038614 single base substitution G A intron_variant PACA-CA 5 137038614 137038614 single base substitution G A upstream_gene_variant PACA-CA 5 137045457 137045457 single base substitution A C exon_variant PACA-CA 5 137045457 137045457 single base substitution A C missense_variant F35V 103T>G PACA-CA 5 137045457 137045457 single base substitution A C missense_variant F43V 127T>G PACA-CA 5 137045457 137045457 single base substitution A C missense_variant F75V 223T>G PACA-CA 5 137045457 137045457 single base substitution A C upstream_gene_variant PACA-CA 5 137052143 137052143 single base substitution T G intron_variant PACA-CA 5 137055407 137055407 single base substitution C T intron_variant PACA-CA 5 137056503 137056503 single base substitution C A 5_prime_UTR_variant PACA-CA 5 137056503 137056503 single base substitution C A intron_variant PACA-CA 5 137056504 137056504 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 5 137056504 137056504 single base substitution T A intron_variant PACA-CA 5 137058479 137058479 deletion of <=200bp T - intron_variant PACA-CA 5 137058479 137058479 deletion of <=200bp T - upstream_gene_variant PACA-CA 5 137060287 137060287 single base substitution G A intron_variant PACA-CA 5 137060287 137060287 single base substitution G A upstream_gene_variant PACA-CA 5 137065111 137065111 single base substitution G A intron_variant PACA-CA 5 137069547 137069547 single base substitution C T intron_variant PACA-CA 5 137069687 137069687 single base substitution C T intron_variant PAEN-AU 5 136976793 136976793 single base substitution C T intron_variant PAEN-AU 5 136999591 136999591 single base substitution G A intron_variant PAEN-IT 5 136988116 136988116 single base substitution A G downstream_gene_variant PAEN-IT 5 136988116 136988116 single base substitution A G intron_variant PAEN-IT 5 137000135 137000135 single base substitution G T intron_variant PAEN-IT 5 137014345 137014345 single base substitution G C intron_variant PAEN-IT 5 137014345 137014345 single base substitution G C upstream_gene_variant PAEN-IT 5 137049771 137049771 single base substitution G T intron_variant PBCA-DE 5 136985080 136985080 single base substitution T G downstream_gene_variant PBCA-DE 5 136985080 136985080 single base substitution T G intron_variant PBCA-DE 5 136991509 136991509 insertion of <=200bp - A downstream_gene_variant PBCA-DE 5 136991509 136991509 insertion of <=200bp - A intron_variant PBCA-DE 5 136991676 136991676 single base substitution C A downstream_gene_variant PBCA-DE 5 136991676 136991676 single base substitution C A intron_variant PBCA-DE 5 136998511 136998511 single base substitution G A intron_variant PBCA-DE 5 137003504 137003504 single base substitution G T downstream_gene_variant PBCA-DE 5 137003504 137003504 single base substitution G T intron_variant PBCA-DE 5 137013137 137013137 insertion of <=200bp - A exon_variant PBCA-DE 5 137013137 137013137 insertion of <=200bp - A intron_variant PBCA-DE 5 137013137 137013137 insertion of <=200bp - A upstream_gene_variant PBCA-DE 5 137022081 137022081 single base substitution G A intron_variant PBCA-DE 5 137030320 137030320 single base substitution G T intron_variant PBCA-DE 5 137030320 137030320 single base substitution G T upstream_gene_variant PBCA-DE 5 137037329 137037329 insertion of <=200bp - A downstream_gene_variant PBCA-DE 5 137037329 137037329 insertion of <=200bp - A intron_variant PBCA-DE 5 137037329 137037329 insertion of <=200bp - A upstream_gene_variant PBCA-DE 5 137041879 137041879 single base substitution G T 5_prime_UTR_variant PBCA-DE 5 137041879 137041879 single base substitution G T intron_variant PBCA-DE 5 137041879 137041879 single base substitution G T upstream_gene_variant PBCA-DE 5 137048623 137048623 insertion of <=200bp - A intron_variant PBCA-DE 5 137051335 137051337 deletion of <=200bp CAT - intron_variant PBCA-DE 5 137053546 137053546 insertion of <=200bp - A intron_variant PBCA-DE 5 137054314 137054314 single base substitution C A intron_variant PBCA-DE 5 137056206 137056206 single base substitution C A 5_prime_UTR_variant PBCA-DE 5 137056206 137056206 single base substitution C A exon_variant PBCA-DE 5 137056206 137056206 single base substitution C A intron_variant PBCA-DE 5 137056206 137056206 single base substitution C A missense_variant V28F 82G>T PBCA-DE 5 137058170 137058170 single base substitution G A intron_variant PBCA-DE 5 137058170 137058170 single base substitution G A upstream_gene_variant PBCA-DE 5 137066012 137066012 single base substitution G A intron_variant PBCA-DE 5 137068705 137068705 insertion of <=200bp - A intron_variant PBCA-DE 5 137072739 137072739 single base substitution G A upstream_gene_variant PRAD-CA 5 136961234 136961234 single base substitution G C intron_variant PRAD-CA 5 137020895 137020895 single base substitution A T intron_variant PRAD-CA 5 137032864 137032864 single base substitution C T intron_variant PRAD-CA 5 137032864 137032864 single base substitution C T upstream_gene_variant PRAD-CA 5 137036964 137036964 single base substitution C A downstream_gene_variant PRAD-CA 5 137036964 137036964 single base substitution C A intron_variant PRAD-CA 5 137036964 137036964 single base substitution C A upstream_gene_variant PRAD-CA 5 137051756 137051756 single base substitution C A intron_variant PRAD-UK 5 136960752 136960752 single base substitution A G intron_variant PRAD-UK 5 136966918 136966918 single base substitution G C downstream_gene_variant PRAD-UK 5 136966918 136966918 single base substitution G C intron_variant PRAD-UK 5 136966918 136966918 single base substitution G C upstream_gene_variant PRAD-UK 5 136974648 136974648 single base substitution T C exon_variant PRAD-UK 5 136974648 136974648 single base substitution T C intron_variant PRAD-UK 5 136974648 136974648 single base substitution T C missense_variant S323G 967A>G PRAD-UK 5 136974648 136974648 single base substitution T C missense_variant S365G 1093A>G PRAD-UK 5 136974648 136974648 single base substitution T C missense_variant S373G 1117A>G PRAD-UK 5 136974648 136974648 single base substitution T C missense_variant S405G 1213A>G PRAD-UK 5 137009589 137009589 single base substitution G C downstream_gene_variant PRAD-UK 5 137009589 137009589 single base substitution G C intron_variant PRAD-UK 5 137009589 137009589 single base substitution G C upstream_gene_variant PRAD-UK 5 137017038 137017038 single base substitution C T intron_variant PRAD-UK 5 137036750 137036750 single base substitution T G downstream_gene_variant PRAD-UK 5 137036750 137036750 single base substitution T G intron_variant PRAD-UK 5 137036750 137036750 single base substitution T G upstream_gene_variant PRAD-UK 5 137048622 137048622 single base substitution T A intron_variant PRAD-UK 5 137064130 137064130 single base substitution C G intron_variant PRAD-UK 5 137068528 137068528 single base substitution A T intron_variant PRAD-UK 5 137073590 137073590 single base substitution G A upstream_gene_variant PRAD-US 5 136963996 136963996 single base substitution C T 3_prime_UTR_variant PRAD-US 5 136963996 136963996 single base substitution C T exon_variant PRAD-US 5 136963996 136963996 single base substitution C T synonymous_variant R445R 1335G>A PRAD-US 5 136963996 136963996 single base substitution C T synonymous_variant R495R 1485G>A PRAD-US 5 136963996 136963996 single base substitution C T synonymous_variant R527R 1581G>A PRAD-US 5 136969760 136969760 single base substitution G A downstream_gene_variant PRAD-US 5 136969760 136969760 single base substitution G A exon_variant PRAD-US 5 136969760 136969760 single base substitution G A intron_variant PRAD-US 5 136969760 136969760 single base substitution G A synonymous_variant Y390Y 1170C>T PRAD-US 5 136969760 136969760 single base substitution G A synonymous_variant Y440Y 1320C>T PRAD-US 5 136969760 136969760 single base substitution G A synonymous_variant Y472Y 1416C>T PRAD-US 5 136969760 136969760 single base substitution G A upstream_gene_variant READ-US 5 136973013 136973013 single base substitution G A intron_variant READ-US 5 136973013 136973013 single base substitution G A missense_variant R349W 1045C>T READ-US 5 136973013 136973013 single base substitution G A missense_variant R391W 1171C>T READ-US 5 136973013 136973013 single base substitution G A missense_variant R399W 1195C>T READ-US 5 136973013 136973013 single base substitution G A missense_variant R431W 1291C>T READ-US 5 137034039 137034039 single base substitution C T 5_prime_UTR_variant READ-US 5 137034039 137034039 single base substitution C T exon_variant READ-US 5 137034039 137034039 single base substitution C T synonymous_variant T100T 300G>A READ-US 5 137034039 137034039 single base substitution C T synonymous_variant T18T 54G>A READ-US 5 137034039 137034039 single base substitution C T synonymous_variant T60T 180G>A READ-US 5 137034039 137034039 single base substitution C T synonymous_variant T68T 204G>A RECA-EU 5 136959554 136959554 single base substitution A G intron_variant RECA-EU 5 136965765 136965765 single base substitution C G downstream_gene_variant RECA-EU 5 136965765 136965765 single base substitution C G intron_variant RECA-EU 5 136965765 136965765 single base substitution C G upstream_gene_variant RECA-EU 5 136968764 136968764 single base substitution T A downstream_gene_variant RECA-EU 5 136968764 136968764 single base substitution T A intron_variant RECA-EU 5 136968764 136968764 single base substitution T A upstream_gene_variant RECA-EU 5 136970477 136970477 single base substitution G A downstream_gene_variant RECA-EU 5 136970477 136970477 single base substitution G A intron_variant RECA-EU 5 136970477 136970477 single base substitution G A upstream_gene_variant RECA-EU 5 136974707 136974707 single base substitution C T exon_variant RECA-EU 5 136974707 136974707 single base substitution C T intron_variant RECA-EU 5 136974707 136974707 single base substitution C T missense_variant S303N 908G>A RECA-EU 5 136974707 136974707 single base substitution C T missense_variant S345N 1034G>A RECA-EU 5 136974707 136974707 single base substitution C T missense_variant S353N 1058G>A RECA-EU 5 136974707 136974707 single base substitution C T missense_variant S385N 1154G>A RECA-EU 5 136975043 136975043 single base substitution A G intron_variant RECA-EU 5 136975732 136975732 single base substitution C A intron_variant RECA-EU 5 136979487 136979487 single base substitution G A intron_variant RECA-EU 5 136990521 136990521 single base substitution C A intron_variant RECA-EU 5 136997803 136997803 single base substitution A G intron_variant RECA-EU 5 137004048 137004048 single base substitution C T downstream_gene_variant RECA-EU 5 137004048 137004048 single base substitution C T intron_variant RECA-EU 5 137007549 137007549 single base substitution G T downstream_gene_variant RECA-EU 5 137007549 137007549 single base substitution G T exon_variant RECA-EU 5 137007549 137007549 single base substitution G T intron_variant RECA-EU 5 137022059 137022059 single base substitution T A intron_variant RECA-EU 5 137043925 137043925 single base substitution A G intron_variant RECA-EU 5 137043925 137043925 single base substitution A G upstream_gene_variant RECA-EU 5 137045093 137045093 single base substitution C A intron_variant RECA-EU 5 137045093 137045093 single base substitution C A upstream_gene_variant RECA-EU 5 137048428 137048428 single base substitution G A intron_variant RECA-EU 5 137065686 137065686 single base substitution G A intron_variant RECA-EU 5 137075970 137075970 single base substitution T A upstream_gene_variant SKCA-BR 5 136948807 136948807 single base substitution G A downstream_gene_variant SKCA-BR 5 136949038 136949038 single base substitution C T downstream_gene_variant SKCA-BR 5 136950178 136950178 single base substitution C T downstream_gene_variant SKCA-BR 5 136951227 136951227 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 5 136951343 136951343 single base substitution G A downstream_gene_variant SKCA-BR 5 136952088 136952088 single base substitution G A downstream_gene_variant SKCA-BR 5 136952985 136952985 single base substitution G A downstream_gene_variant SKCA-BR 5 136954187 136954187 single base substitution C T 3_prime_UTR_variant SKCA-BR 5 136954187 136954187 single base substitution C T downstream_gene_variant SKCA-BR 5 136954187 136954187 single base substitution C T intron_variant SKCA-BR 5 136954581 136954581 insertion of <=200bp - TA 3_prime_UTR_variant SKCA-BR 5 136954581 136954581 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 5 136954581 136954581 insertion of <=200bp - TA intron_variant SKCA-BR 5 136956203 136956203 single base substitution G A 3_prime_UTR_variant SKCA-BR 5 136956203 136956203 single base substitution G A downstream_gene_variant SKCA-BR 5 136956203 136956203 single base substitution G A intron_variant SKCA-BR 5 136963165 136963166 deletion of <=200bp CA - intron_variant SKCA-BR 5 136964421 136964421 single base substitution G T exon_variant SKCA-BR 5 136964421 136964421 single base substitution G T intron_variant SKCA-BR 5 136964421 136964421 single base substitution G T upstream_gene_variant SKCA-BR 5 136965036 136965036 single base substitution G A downstream_gene_variant SKCA-BR 5 136965036 136965036 single base substitution G A exon_variant SKCA-BR 5 136965036 136965036 single base substitution G A intron_variant SKCA-BR 5 136965036 136965036 single base substitution G A upstream_gene_variant SKCA-BR 5 136966109 136966109 single base substitution C T downstream_gene_variant SKCA-BR 5 136966109 136966109 single base substitution C T intron_variant SKCA-BR 5 136966109 136966109 single base substitution C T upstream_gene_variant SKCA-BR 5 136966110 136966110 single base substitution C T downstream_gene_variant SKCA-BR 5 136966110 136966110 single base substitution C T intron_variant SKCA-BR 5 136966110 136966110 single base substitution C T upstream_gene_variant SKCA-BR 5 136968518 136968518 single base substitution T C downstream_gene_variant SKCA-BR 5 136968518 136968518 single base substitution T C intron_variant SKCA-BR 5 136968518 136968518 single base substitution T C upstream_gene_variant SKCA-BR 5 136968744 136968744 single base substitution T G downstream_gene_variant SKCA-BR 5 136968744 136968744 single base substitution T G intron_variant SKCA-BR 5 136968744 136968744 single base substitution T G upstream_gene_variant SKCA-BR 5 136970484 136970484 single base substitution A G downstream_gene_variant SKCA-BR 5 136970484 136970484 single base substitution A G intron_variant SKCA-BR 5 136970484 136970484 single base substitution A G upstream_gene_variant SKCA-BR 5 136973417 136973417 single base substitution T C intron_variant SKCA-BR 5 136980058 136980058 single base substitution C A intron_variant SKCA-BR 5 136980926 136980926 single base substitution C T intron_variant SKCA-BR 5 136983082 136983082 single base substitution G A intron_variant SKCA-BR 5 136988443 136988443 single base substitution G A downstream_gene_variant SKCA-BR 5 136988443 136988443 single base substitution G A intron_variant SKCA-BR 5 136990031 136990031 single base substitution G A intron_variant SKCA-BR 5 136991704 136991704 single base substitution T A downstream_gene_variant SKCA-BR 5 136991704 136991704 single base substitution T A intron_variant SKCA-BR 5 136995294 136995294 single base substitution C A downstream_gene_variant SKCA-BR 5 136995294 136995294 single base substitution C A intron_variant SKCA-BR 5 136996384 136996384 single base substitution T A downstream_gene_variant SKCA-BR 5 136996384 136996384 single base substitution T A intron_variant SKCA-BR 5 136999610 136999610 single base substitution G A intron_variant SKCA-BR 5 136999723 136999723 single base substitution A G intron_variant SKCA-BR 5 137000370 137000370 single base substitution G A intron_variant SKCA-BR 5 137005364 137005364 single base substitution G A downstream_gene_variant SKCA-BR 5 137005364 137005364 single base substitution G A intron_variant SKCA-BR 5 137006660 137006660 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 5 137006660 137006660 insertion of <=200bp - CA intron_variant SKCA-BR 5 137009268 137009268 single base substitution C T downstream_gene_variant SKCA-BR 5 137009268 137009268 single base substitution C T intron_variant SKCA-BR 5 137009268 137009268 single base substitution C T upstream_gene_variant SKCA-BR 5 137010366 137010366 single base substitution G A downstream_gene_variant SKCA-BR 5 137010366 137010366 single base substitution G A intron_variant SKCA-BR 5 137010366 137010366 single base substitution G A upstream_gene_variant SKCA-BR 5 137011385 137011385 single base substitution C T downstream_gene_variant SKCA-BR 5 137011385 137011385 single base substitution C T intron_variant SKCA-BR 5 137011385 137011385 single base substitution C T upstream_gene_variant SKCA-BR 5 137012832 137012832 single base substitution C T downstream_gene_variant SKCA-BR 5 137012832 137012832 single base substitution C T intron_variant SKCA-BR 5 137012832 137012832 single base substitution C T upstream_gene_variant SKCA-BR 5 137013155 137013155 single base substitution A T exon_variant SKCA-BR 5 137013155 137013155 single base substitution A T intron_variant SKCA-BR 5 137013155 137013155 single base substitution A T upstream_gene_variant SKCA-BR 5 137013206 137013206 single base substitution C T intron_variant SKCA-BR 5 137013206 137013206 single base substitution C T upstream_gene_variant SKCA-BR 5 137017140 137017140 single base substitution G A intron_variant SKCA-BR 5 137018222 137018222 single base substitution G A intron_variant SKCA-BR 5 137018538 137018538 single base substitution C T intron_variant SKCA-BR 5 137019740 137019740 single base substitution T G intron_variant SKCA-BR 5 137019744 137019744 single base substitution T G intron_variant SKCA-BR 5 137020296 137020296 single base substitution C T intron_variant SKCA-BR 5 137021904 137021904 single base substitution C T intron_variant SKCA-BR 5 137022846 137022846 single base substitution C T intron_variant SKCA-BR 5 137022874 137022874 single base substitution T C intron_variant SKCA-BR 5 137023419 137023419 single base substitution A G intron_variant SKCA-BR 5 137023424 137023424 single base substitution T G intron_variant SKCA-BR 5 137023435 137023435 single base substitution T A intron_variant SKCA-BR 5 137024431 137024431 single base substitution C T intron_variant SKCA-BR 5 137024441 137024441 single base substitution C T intron_variant SKCA-BR 5 137025953 137025953 single base substitution T C intron_variant SKCA-BR 5 137030150 137030150 single base substitution C T intron_variant SKCA-BR 5 137030150 137030150 single base substitution C T upstream_gene_variant SKCA-BR 5 137031570 137031570 single base substitution G A intron_variant SKCA-BR 5 137031570 137031570 single base substitution G A upstream_gene_variant SKCA-BR 5 137031571 137031571 single base substitution G A intron_variant SKCA-BR 5 137031571 137031571 single base substitution G A upstream_gene_variant SKCA-BR 5 137032015 137032015 single base substitution G A intron_variant SKCA-BR 5 137032015 137032015 single base substitution G A upstream_gene_variant SKCA-BR 5 137033196 137033196 single base substitution C T intron_variant SKCA-BR 5 137033196 137033196 single base substitution C T upstream_gene_variant SKCA-BR 5 137033690 137033690 single base substitution A C intron_variant SKCA-BR 5 137035013 137035013 single base substitution T G intron_variant SKCA-BR 5 137035013 137035013 single base substitution T G upstream_gene_variant SKCA-BR 5 137036210 137036210 single base substitution G A intron_variant SKCA-BR 5 137036210 137036210 single base substitution G A upstream_gene_variant SKCA-BR 5 137038329 137038329 single base substitution G A downstream_gene_variant SKCA-BR 5 137038329 137038329 single base substitution G A intron_variant SKCA-BR 5 137038329 137038329 single base substitution G A upstream_gene_variant SKCA-BR 5 137039021 137039021 single base substitution G A downstream_gene_variant SKCA-BR 5 137039021 137039021 single base substitution G A intron_variant SKCA-BR 5 137039021 137039021 single base substitution G A upstream_gene_variant SKCA-BR 5 137039032 137039032 single base substitution C T downstream_gene_variant SKCA-BR 5 137039032 137039032 single base substitution C T intron_variant SKCA-BR 5 137039032 137039032 single base substitution C T upstream_gene_variant SKCA-BR 5 137039563 137039563 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 5 137039563 137039563 insertion of <=200bp - CA intron_variant SKCA-BR 5 137040030 137040030 single base substitution C T downstream_gene_variant SKCA-BR 5 137040030 137040030 single base substitution C T intron_variant SKCA-BR 5 137041518 137041518 single base substitution G A downstream_gene_variant SKCA-BR 5 137041518 137041518 single base substitution G A intron_variant SKCA-BR 5 137042589 137042589 single base substitution G A intron_variant SKCA-BR 5 137042589 137042589 single base substitution G A upstream_gene_variant SKCA-BR 5 137043682 137043682 single base substitution G A intron_variant SKCA-BR 5 137043682 137043682 single base substitution G A upstream_gene_variant SKCA-BR 5 137047271 137047271 single base substitution C G intron_variant SKCA-BR 5 137050087 137050087 single base substitution T C intron_variant SKCA-BR 5 137050936 137050936 single base substitution C T intron_variant SKCA-BR 5 137051846 137051846 single base substitution C A intron_variant SKCA-BR 5 137052033 137052037 deletion of <=200bp ATGTT - intron_variant SKCA-BR 5 137052454 137052454 single base substitution G A intron_variant SKCA-BR 5 137057846 137057846 single base substitution G A intron_variant SKCA-BR 5 137057846 137057846 single base substitution G A upstream_gene_variant SKCA-BR 5 137058079 137058079 single base substitution G A intron_variant SKCA-BR 5 137058079 137058079 single base substitution G A upstream_gene_variant SKCA-BR 5 137059538 137059538 single base substitution G A intron_variant SKCA-BR 5 137059538 137059538 single base substitution G A upstream_gene_variant SKCA-BR 5 137059967 137059967 single base substitution G A intron_variant SKCA-BR 5 137059967 137059967 single base substitution G A upstream_gene_variant SKCA-BR 5 137060695 137060695 single base substitution G A intron_variant SKCA-BR 5 137060695 137060695 single base substitution G A upstream_gene_variant SKCA-BR 5 137060838 137060838 single base substitution C T intron_variant SKCA-BR 5 137060838 137060838 single base substitution C T upstream_gene_variant SKCA-BR 5 137062099 137062099 single base substitution G A intron_variant SKCA-BR 5 137062279 137062279 single base substitution G A intron_variant SKCA-BR 5 137062520 137062520 single base substitution G A intron_variant SKCA-BR 5 137062684 137062684 single base substitution C T intron_variant SKCA-BR 5 137066476 137066476 single base substitution T C intron_variant SKCA-BR 5 137067422 137067422 single base substitution C A intron_variant SKCA-BR 5 137068510 137068510 single base substitution G A intron_variant SKCA-BR 5 137069020 137069020 single base substitution C T intron_variant SKCA-BR 5 137070255 137070255 single base substitution G A intron_variant SKCA-BR 5 137073528 137073528 single base substitution G A upstream_gene_variant SKCM-US 5 136964008 136964008 single base substitution C T 3_prime_UTR_variant SKCM-US 5 136964008 136964008 single base substitution C T exon_variant SKCM-US 5 136964008 136964008 single base substitution C T missense_variant M441I 1323G>A SKCM-US 5 136964008 136964008 single base substitution C T missense_variant M491I 1473G>A SKCM-US 5 136964008 136964008 single base substitution C T missense_variant M523I 1569G>A SKCM-US 5 136964127 136964127 single base substitution C T exon_variant SKCM-US 5 136964127 136964127 single base substitution C T splice_acceptor_variant SKCM-US 5 136969750 136969750 single base substitution T C downstream_gene_variant SKCM-US 5 136969750 136969750 single base substitution T C exon_variant SKCM-US 5 136969750 136969750 single base substitution T C intron_variant SKCM-US 5 136969750 136969750 single base substitution T C missense_variant M394V 1180A>G SKCM-US 5 136969750 136969750 single base substitution T C missense_variant M444V 1330A>G SKCM-US 5 136969750 136969750 single base substitution T C missense_variant M476V 1426A>G SKCM-US 5 136969750 136969750 single base substitution T C upstream_gene_variant SKCM-US 5 136969778 136969778 single base substitution C T downstream_gene_variant SKCM-US 5 136969778 136969778 single base substitution C T exon_variant SKCM-US 5 136969778 136969778 single base substitution C T intron_variant SKCM-US 5 136969778 136969778 single base substitution C T synonymous_variant A384A 1152G>A SKCM-US 5 136969778 136969778 single base substitution C T synonymous_variant A434A 1302G>A SKCM-US 5 136969778 136969778 single base substitution C T synonymous_variant A466A 1398G>A SKCM-US 5 136969778 136969778 single base substitution C T upstream_gene_variant SKCM-US 5 136974658 136974658 single base substitution G A exon_variant SKCM-US 5 136974658 136974658 single base substitution G A intron_variant SKCM-US 5 136974658 136974658 single base substitution G A synonymous_variant G319G 957C>T SKCM-US 5 136974658 136974658 single base substitution G A synonymous_variant G361G 1083C>T SKCM-US 5 136974658 136974658 single base substitution G A synonymous_variant G369G 1107C>T SKCM-US 5 136974658 136974658 single base substitution G A synonymous_variant G401G 1203C>T SKCM-US 5 136974685 136974685 single base substitution G A exon_variant SKCM-US 5 136974685 136974685 single base substitution G A intron_variant SKCM-US 5 136974685 136974685 single base substitution G A synonymous_variant L310L 930C>T SKCM-US 5 136974685 136974685 single base substitution G A synonymous_variant L352L 1056C>T SKCM-US 5 136974685 136974685 single base substitution G A synonymous_variant L360L 1080C>T SKCM-US 5 136974685 136974685 single base substitution G A synonymous_variant L392L 1176C>T SKCM-US 5 137028034 137028034 single base substitution G A exon_variant SKCM-US 5 137028034 137028034 single base substitution G A missense_variant R116C 346C>T SKCM-US 5 137028034 137028034 single base substitution G A missense_variant R124C 370C>T SKCM-US 5 137028034 137028034 single base substitution G A missense_variant R156C 466C>T SKCM-US 5 137028034 137028034 single base substitution G A missense_variant R74C 220C>T SKCM-US 5 137028034 137028034 single base substitution G A synonymous_variant S37S 111C>T SKCM-US 5 137028077 137028077 single base substitution G A exon_variant SKCM-US 5 137028077 137028077 single base substitution G A missense_variant T23I 68C>T SKCM-US 5 137028077 137028077 single base substitution G A synonymous_variant D101D 303C>T SKCM-US 5 137028077 137028077 single base substitution G A synonymous_variant D109D 327C>T SKCM-US 5 137028077 137028077 single base substitution G A synonymous_variant D141D 423C>T SKCM-US 5 137028077 137028077 single base substitution G A synonymous_variant D59D 177C>T SKCM-US 5 137045464 137045464 single base substitution G A exon_variant SKCM-US 5 137045464 137045464 single base substitution G A synonymous_variant S32S 96C>T SKCM-US 5 137045464 137045464 single base substitution G A synonymous_variant S40S 120C>T SKCM-US 5 137045464 137045464 single base substitution G A synonymous_variant S72S 216C>T SKCM-US 5 137045464 137045464 single base substitution G A upstream_gene_variant SKCM-US 5 137045491 137045491 single base substitution G A exon_variant SKCM-US 5 137045491 137045491 single base substitution G A synonymous_variant A23A 69C>T SKCM-US 5 137045491 137045491 single base substitution G A synonymous_variant A31A 93C>T SKCM-US 5 137045491 137045491 single base substitution G A synonymous_variant A63A 189C>T SKCM-US 5 137045491 137045491 single base substitution G A upstream_gene_variant STAD-US 5 136964109 136964109 single base substitution C T 3_prime_UTR_variant STAD-US 5 136964109 136964109 single base substitution C T exon_variant STAD-US 5 136964109 136964109 single base substitution C T missense_variant G408R 1222G>A STAD-US 5 136964109 136964109 single base substitution C T missense_variant G458R 1372G>A STAD-US 5 136964109 136964109 single base substitution C T missense_variant G490R 1468G>A STAD-US 5 136964109 136964109 single base substitution C T synonymous_variant A187A 561G>A STAD-US 5 136964110 136964110 single base substitution G A 3_prime_UTR_variant STAD-US 5 136964110 136964110 single base substitution G A exon_variant STAD-US 5 136964110 136964110 single base substitution G A missense_variant A187V 560C>T STAD-US 5 136964110 136964110 single base substitution G A synonymous_variant S407S 1221C>T STAD-US 5 136964110 136964110 single base substitution G A synonymous_variant S457S 1371C>T STAD-US 5 136964110 136964110 single base substitution G A synonymous_variant S489S 1467C>T STAD-US 5 136974736 136974736 single base substitution C T exon_variant STAD-US 5 136974736 136974736 single base substitution C T intron_variant STAD-US 5 136974736 136974736 single base substitution C T synonymous_variant T293T 879G>A STAD-US 5 136974736 136974736 single base substitution C T synonymous_variant T335T 1005G>A STAD-US 5 136974736 136974736 single base substitution C T synonymous_variant T343T 1029G>A STAD-US 5 136974736 136974736 single base substitution C T synonymous_variant T375T 1125G>A STAD-US 5 137056165 137056165 single base substitution A G exon_variant STAD-US 5 137056165 137056165 single base substitution A G intron_variant STAD-US 5 137056165 137056165 single base substitution A G synonymous_variant N41N 123T>C STAD-US 5 137056165 137056165 single base substitution A G synonymous_variant N9N 27T>C STAD-US 5 137056206 137056206 single base substitution C T 5_prime_UTR_variant STAD-US 5 137056206 137056206 single base substitution C T exon_variant STAD-US 5 137056206 137056206 single base substitution C T intron_variant STAD-US 5 137056206 137056206 single base substitution C T missense_variant V28I 82G>A UCEC-US 5 136961467 136961467 single base substitution G A 3_prime_UTR_variant UCEC-US 5 136961467 136961467 single base substitution G A exon_variant UCEC-US 5 136961467 136961467 single base substitution G A intron_variant UCEC-US 5 136961467 136961467 single base substitution G A synonymous_variant N488N 1464C>T UCEC-US 5 136961467 136961467 single base substitution G A synonymous_variant N538N 1614C>T UCEC-US 5 136961467 136961467 single base substitution G A synonymous_variant N570N 1710C>T UCEC-US 5 136963985 136963985 single base substitution C A exon_variant UCEC-US 5 136963985 136963985 single base substitution C A splice_donor_variant UCEC-US 5 136964046 136964046 single base substitution C T 3_prime_UTR_variant UCEC-US 5 136964046 136964046 single base substitution C T exon_variant UCEC-US 5 136964046 136964046 single base substitution C T missense_variant D429N 1285G>A UCEC-US 5 136964046 136964046 single base substitution C T missense_variant D479N 1435G>A UCEC-US 5 136964046 136964046 single base substitution C T missense_variant D511N 1531G>A UCEC-US 5 136993957 136993957 single base substitution C A 3_prime_UTR_variant UCEC-US 5 136993957 136993957 single base substitution C A downstream_gene_variant UCEC-US 5 136993957 136993957 single base substitution C A exon_variant UCEC-US 5 136993957 136993957 single base substitution C A stop_gained E136* 406G>T UCEC-US 5 136993957 136993957 single base substitution C A stop_gained E174* 520G>T UCEC-US 5 136993957 136993957 single base substitution C A stop_gained E216* 646G>T UCEC-US 5 136993957 136993957 single base substitution C A stop_gained E224* 670G>T UCEC-US 5 136993957 136993957 single base substitution C A stop_gained E256* 766G>T UCEC-US 5 136997681 136997681 single base substitution C A 3_prime_UTR_variant UCEC-US 5 136997681 136997681 single base substitution C A exon_variant UCEC-US 5 136997681 136997681 single base substitution C A stop_gained E106* 316G>T UCEC-US 5 136997681 136997681 single base substitution C A stop_gained E144* 430G>T UCEC-US 5 136997681 136997681 single base substitution C A stop_gained E186* 556G>T UCEC-US 5 136997681 136997681 single base substitution C A stop_gained E194* 580G>T UCEC-US 5 136997681 136997681 single base substitution C A stop_gained E226* 676G>T UCEC-US 5 137013258 137013258 single base substitution C A 3_prime_UTR_variant UCEC-US 5 137013258 137013258 single base substitution C A exon_variant UCEC-US 5 137013258 137013258 single base substitution C A missense_variant K122N 366G>T UCEC-US 5 137013258 137013258 single base substitution C A missense_variant K164N 492G>T UCEC-US 5 137013258 137013258 single base substitution C A missense_variant K172N 516G>T UCEC-US 5 137013258 137013258 single base substitution C A missense_variant K204N 612G>T UCEC-US 5 137013258 137013258 single base substitution C A missense_variant K84N 252G>T UCEC-US 5 137013258 137013258 single base substitution C A upstream_gene_variant UCEC-US 5 137034000 137034000 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 5 137034000 137034000 single base substitution G A exon_variant UCEC-US 5 137034000 137034000 single base substitution G A synonymous_variant I113I 339C>T UCEC-US 5 137034000 137034000 single base substitution G A synonymous_variant I31I 93C>T UCEC-US 5 137034000 137034000 single base substitution G A synonymous_variant I73I 219C>T UCEC-US 5 137034000 137034000 single base substitution G A synonymous_variant I81I 243C>T UCEC-US 5 137045539 137045539 single base substitution C T exon_variant UCEC-US 5 137045539 137045539 single base substitution C T synonymous_variant Q15Q 45G>A UCEC-US 5 137045539 137045539 single base substitution C T synonymous_variant Q47Q 141G>A UCEC-US 5 137045539 137045539 single base substitution C T synonymous_variant Q7Q 21G>A UCEC-US 5 137045539 137045539 single base substitution C T upstream_gene_variant UCEC-US 5 137056158 137056158 single base substitution G A exon_variant UCEC-US 5 137056158 137056158 single base substitution G A intron_variant UCEC-US 5 137056158 137056158 single base substitution G A missense_variant R12W 34C>T UCEC-US 5 137056158 137056158 single base substitution G A missense_variant R44W 130C>T UCEC-US 5 137056182 137056182 single base substitution C T exon_variant UCEC-US 5 137056182 137056182 single base substitution C T intron_variant UCEC-US 5 137056182 137056182 single base substitution C T missense_variant A36T 106G>A UCEC-US 5 137056182 137056182 single base substitution C T missense_variant A4T 10G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 115 COSM5011493 c.1744G>A p.V582M Substitution - Missense 5:137622118-137622118 - 2492730 COSM5729151 c.1058G>A p.G353E Substitution - Missense 5:137639114-137639114 - LUAD-RT-S01702 COSM379361 c.134G>A p.S45N Substitution - Missense 5:137720465-137720465 - TCGA-AM-5821-01 COSM3760929 c.471A>G p.A157A Substitution - coding silent 5:137692340-137692340 - 53M COSM1061165 c.339C>T p.I113I Substitution - coding silent 5:137698311-137698311 - TCGA-CC-A3MA-01 COSM1061152 c.1591+1G>T p.? Unknown 5:137628296-137628296 - 8016470 COSM3393149 c.227G>A p.C76Y Substitution - Missense 5:137709764-137709764 - Pat_76_B COSM5867336 c.406C>T p.R136W Substitution - Missense 5:137692405-137692405 - TCGA-D8-A27N-01 COSM1486304 c.1414_1415delTA p.Y472fs*17 Deletion - Frameshift 5:137634072-137634073 - Pat_14_A COSM5867337 c.217C>T p.P73S Substitution - Missense 5:137709774-137709774 - TCGA-EE-A2GP-06 COSM3608786 c.216C>T p.S72S Substitution - coding silent 5:137709775-137709775 - 587220 COSM1212633 c.1519G>A p.V507I Substitution - Missense 5:137628369-137628369 - TCGA-AP-A056-01 COSM1061166 c.141G>A p.Q47Q Substitution - coding silent 5:137709850-137709850 - TCGA-AP-A051-01 COSM1061160 c.612G>T p.K204N Substitution - Missense 5:137677569-137677569 - TCGA-B0-5081-01 COSM481966 c.1104C>T p.D368D Substitution - coding silent 5:137639068-137639068 - SC_9058 COSM5546806 c.793delT p.C265fs*9 Deletion - Frameshift 5:137658241-137658241 - TCGA-EE-A181-06 COSM3608777 c.1451-1G>A p.? Unknown 5:137628438-137628438 - B45 COSM1753978 c.1519G>T p.V507F Substitution - Missense 5:137628369-137628369 - CHC205T COSM3760929 c.471A>G p.A157A Substitution - coding silent 5:137692340-137692340 - Pat_40_A COSM5867335 c.1170_1171GG>AA p.V391M Substitution - Missense 5:137639001-137639002 - TCGA-B2-5633-01 COSM481967 c.383G>A p.S128N Substitution - Missense 5:137692428-137692428 - 2521260 COSM1619502 c.527-8delT p.? Unknown 5:137677662-137677662 - T96 COSM4696514 c.1416C>T p.Y472Y Substitution - coding silent 5:137634071-137634071 - Pat_24_A COSM4761782 c.1286C>T p.T429M Substitution - Missense 5:137637329-137637329 - TCGA-AP-A0LD-01 COSM1061167 c.130C>T p.R44W Substitution - Missense 5:137720469-137720469 - TCGA-AA-A010-01 COSM282281 c.623C>A p.S208Y Substitution - Missense 5:137677558-137677558 - T263 COSM4696517 c.1303G>C p.G435R Substitution - Missense 5:137637312-137637312 - TCGA-AX-A05Z-01 COSM1061152 c.1591+1G>T p.? Unknown 5:137628296-137628296 - TCGA-A8-A09Z-01 COSM3826811 c.523G>A p.A175T Substitution - Missense 5:137692288-137692288 - TCGA-BR-7851-01 COSM3850312 c.1125G>A p.T375T Substitution - coding silent 5:137639047-137639047 - T155 COSM1177014 c.619G>A p.V207I Substitution - Missense 5:137677562-137677562 - 169 COSM3729314 c.522C>T p.Y174Y Substitution - coding silent 5:137692289-137692289 - CSCC-19-T COSM4502664 c.618C>T p.T206T Substitution - coding silent 5:137677563-137677563 - ESCC-D20 COSM5045897 c.1733C>T p.A578V Substitution - Missense 5:137625755-137625755 - TCGA-DB-A4XD-01 COSM3975176 c.817A>G p.M273V Substitution - Missense 5:137658217-137658217 - TCGA-BR-7707-01 COSM3850314 c.123T>C p.N41N Substitution - coding silent 5:137720476-137720476 - Pat_76_A COSM5867336 c.406C>T p.R136W Substitution - Missense 5:137692405-137692405 - HCT8 COSM1633947 c.337A>T p.I113F Substitution - Missense 5:137698313-137698313 - RK042_C COSM1633947 c.337A>T p.I113F Substitution - Missense 5:137698313-137698313 - SA214 COSM212294 c.428T>C p.L143P Substitution - Missense 5:137692383-137692383 - CSCC-16-T COSM4521492 c.1114G>A p.D372N Substitution - Missense 5:137639058-137639058 - 17 COSM1633947 c.337A>T p.I113F Substitution - Missense 5:137698313-137698313 - pfg059T COSM4761782 c.1286C>T p.T429M Substitution - Missense 5:137637329-137637329 - TCGA-EE-A3AB-06 COSM3918672 c.1426A>G p.M476V Substitution - Missense 5:137634061-137634061 - T368 COSM4696515 c.1397C>T p.A466V Substitution - Missense 5:137634090-137634090 - CSCC-29-T COSM4494094 c.426C>T p.F142F Substitution - coding silent 5:137692385-137692385 - PT40 COSM5923697 c.932C>T p.P311L Substitution - Missense 5:137639949-137639949 - ESCC_BICR_040T COSM5430136 c.153C>T p.D51D Substitution - coding silent 5:137709838-137709838 - T3024 COSM4696516 c.1311C>T p.G437G Substitution - coding silent 5:137637304-137637304 - TCGA-G4-6320-01 COSM3696922 c.1435C>T p.R479C Substitution - Missense 5:137634052-137634052 - Pat_40_B COSM5867335 c.1170_1171GG>AA p.V391M Substitution - Missense 5:137639001-137639002 - BCM375T COSM3608786 c.216C>T p.S72S Substitution - coding silent 5:137709775-137709775 - TCGA-AX-A063-01 COSM1061151 c.1710C>T p.N570N Substitution - coding silent 5:137625778-137625778 - SWE-4B COSM1179571 c.602C>A p.S201Y Substitution - Missense 5:137677579-137677579 - EGC23 COSM5060632 c.1437C>T p.R479R Substitution - coding silent 5:137634050-137634050 - CLL018 COSM1292021 c.1288C>T p.R430W Substitution - Missense 5:137637327-137637327 - PTC-7C COSM4159428 c.1492C>A p.H498N Substitution - Missense 5:137628396-137628396 - TCGA-EE-A2MR-06 COSM3608776 c.1569G>A p.M523I Substitution - Missense 5:137628319-137628319 - TCGA-EE-A29V-06 COSM3608785 c.466C>T p.R156C Substitution - Missense 5:137692345-137692345 - TCGA-BR-4201-01 COSM3850311 c.1467C>T p.S489S Substitution - coding silent 5:137628421-137628421 - TCGA-EJ-5542-01 COSM3783852 c.1581G>A p.R527R Substitution - coding silent 5:137628307-137628307 - LUAD-S00484 COSM343060 c.724C>T p.P242S Substitution - Missense 5:137661944-137661944 - CSCC-38-T COSM4456222 c.1000C>T p.P334S Substitution - Missense 5:137639881-137639881 - TCGA-JW-A5VL-01 COSM4848027 c.1538G>A p.G513E Substitution - Missense 5:137628350-137628350 - TCGA-AX-A05Z-01 COSM1061165 c.339C>T p.I113I Substitution - coding silent 5:137698311-137698311 - CCK81 COSM481966 c.1104C>T p.D368D Substitution - coding silent 5:137639068-137639068 - PCSI_0169_Pa_P_526 COSM4444096 c.944G>A p.R315H Substitution - Missense 5:137639937-137639937 - 61 COSM5737337 c.1140G>A p.M380I Substitution - Missense 5:137639032-137639032 - TCGA-60-2723-01 COSM735611 c.1578C>T p.C526C Substitution - coding silent 5:137628310-137628310 - TCGA-56-1622-01 COSM735612 c.1612C>T p.L538F Substitution - Missense 5:137625876-137625876 - STC263 COSM5060631 c.1508T>C p.V503A Substitution - Missense 5:137628380-137628380 - T2269 COSM4696518 c.763G>A p.E255K Substitution - Missense 5:137658271-137658271 - sysucc-311T COSM1061156 c.676G>T p.E226* Substitution - Nonsense 5:137661992-137661992 - WSU-HN8 COSM4602825 c.272T>A p.I91K Substitution - Missense 5:137698378-137698378 - 61 COSM4696515 c.1397C>T p.A466V Substitution - Missense 5:137634090-137634090 - TCGA-EI-6507-01 COSM1567507 c.300G>A p.T100T Substitution - coding silent 5:137698350-137698350 - Pat_32_A COSM1310563 c.1360C>T p.R454C Substitution - Missense 5:137634127-137634127 - CSCC-16-T COSM4561371 c.881G>T p.R294M Substitution - Missense 5:137658153-137658153 - 587222 COSM1212634 c.819G>T p.M273I Substitution - Missense 5:137658215-137658215 - ZZUFHECRKL-G012T COSM5435372 c.1479C>T p.Y493Y Substitution - coding silent 5:137628409-137628409 - 35M COSM1061153 c.1531G>A p.D511N Substitution - Missense 5:137628357-137628357 - YULAN COSM1696214 c.739G>T p.D247Y Substitution - Missense 5:137661929-137661929 - C058 COSM5525168 c.626C>T p.S209L Substitution - Missense 5:137677555-137677555 - MO_1162 COSM5565609 c.1085G>A p.R362Q Substitution - Missense 5:137639087-137639087 - STC263 COSM5060633 c.1079G>A p.R360Q Substitution - Missense 5:137639093-137639093 - T3446 COSM4696519 c.375G>A p.P125P Substitution - coding silent 5:137692436-137692436 - C0038T COSM4155462 c.1154G>A p.S385N Substitution - Missense 5:137639018-137639018 - TCGA-BQ-5891-01 COSM3365839 c.1587C>T p.N529N Substitution - coding silent 5:137628301-137628301 - PD13753a COSM5770560 c.985C>T p.Q329* Substitution - Nonsense 5:137639896-137639896 - TCGA-FW-A3R5-06 COSM3918673 c.1398G>A p.A466A Substitution - coding silent 5:137634089-137634089 - SW480 COSM1061153 c.1531G>A p.D511N Substitution - Missense 5:137628357-137628357 - HCT116 COSM3138846 c.921C>T p.G307G Substitution - coding silent 5:137639960-137639960 - ESCC_134 COSM5642832 c.1628G>T p.G543V Substitution - Missense 5:137625860-137625860 - TCGA-AA-3977-01 COSM297584 c.1421C>T p.A474V Substitution - Missense 5:137634066-137634066 - TCGA-D1-A176-01 COSM1061154 c.1502C>A p.P501H Substitution - Missense 5:137628386-137628386 - T2941 COSM3138871 c.177C>T p.V59V Substitution - coding silent 5:137709814-137709814 - C086 COSM5533472 c.10G>A p.E4K Substitution - Missense 5:137735637-137735637 - ESCC_11 COSM5624601 c.719G>C p.R240P Substitution - Missense 5:137661949-137661949 - SJOS015_D COSM5023353 c.527-4A>G p.? Unknown 5:137677658-137677658 - TCGA-J9-A52C-01 COSM4696514 c.1416C>T p.Y472Y Substitution - coding silent 5:137634071-137634071 - HN_62814 COSM124006 c.194G>A p.R65H Substitution - Missense 5:137709797-137709797 - PD18046a COSM5767990 c.1230G>A p.S410S Substitution - coding silent 5:137637385-137637385 - PTC-28C COSM3760929 c.471A>G p.A157A Substitution - coding silent 5:137692340-137692340 - TCGA-AP-A0LF-01 COSM1061161 c.606C>A p.S202R Substitution - Missense 5:137677575-137677575 - BD58T COSM5511307 c.582C>T p.D194D Substitution - coding silent 5:137677599-137677599 - GC8_T COSM149914 c.1383G>A p.E461E Substitution - coding silent 5:137634104-137634104 - HCC58 COSM3661420 c.1584C>T p.R528R Substitution - coding silent 5:137628304-137628304 - PCSI_0002_Pa_X COSM3381094 c.223T>G p.F75V Substitution - Missense 5:137709768-137709768 - 53M COSM5594792 c.1001C>T p.P334L Substitution - Missense 5:137639880-137639880 - HCC4T COSM1619502 c.527-8delT p.? Unknown 5:137677662-137677662 - TCGA-GV-A3QH-01 COSM1310563 c.1360C>T p.R454C Substitution - Missense 5:137634127-137634127 - TCGA-FW-A3R5-06 COSM3918674 c.1203C>T p.G401G Substitution - coding silent 5:137638969-137638969 - TCGA-24-1844-01 COSM1328275 c.1635T>A p.D545E Substitution - Missense 5:137625853-137625853 - C709 COSM4444096 c.944G>A p.R315H Substitution - Missense 5:137639937-137639937 - 2293782 COSM4609118 c.1554G>T p.K518N Substitution - Missense 5:137628334-137628334 - 587376 COSM1212636 c.719G>A p.R240Q Substitution - Missense 5:137661949-137661949 - HCC107T COSM1619500 c.1168G>A p.A390T Substitution - Missense 5:137639004-137639004 - TCGA-D1-A17Q-01 COSM1061156 c.676G>T p.E226* Substitution - Nonsense 5:137661992-137661992 - TCGA-B5-A11E-01 COSM1061168 c.106G>A p.A36T Substitution - Missense 5:137720493-137720493 - TCGA-EI-6511-01 COSM3428920 c.1291C>T p.R431W Substitution - Missense 5:137637324-137637324 - TCGA-CG-5721-01 COSM3850315 c.82G>A p.V28I Substitution - Missense 5:137720517-137720517 - 1078-01-03TD COSM5416932 c.518C>T p.A173V Substitution - Missense 5:137692293-137692293 - TCGA-B5-A0JY-01 COSM1061155 c.766G>T p.E256* Substitution - Nonsense 5:137658268-137658268 - YUMUT COSM1061153 c.1531G>A p.D511N Substitution - Missense 5:137628357-137628357 - TCGA-BQ-5890-01 COSM3993983 c.922G>A p.G308S Substitution - Missense 5:137639959-137639959 - HCC58T COSM3661420 c.1584C>T p.R528R Substitution - coding silent 5:137628304-137628304 - PTC-14C COSM4159429 c.1041C>G p.G347G Substitution - coding silent 5:137639131-137639131 - BCM439T COSM4951875 c.496G>A p.D166N Substitution - Missense 5:137692315-137692315 - TCGA-B5-A0JY-01 COSM1061153 c.1531G>A p.D511N Substitution - Missense 5:137628357-137628357 - BCM439T COSM4951875 c.496G>A p.D166N Substitution - Missense 5:137692315-137692315 - 587284 COSM1212635 c.1141C>T p.Q381* Substitution - Nonsense 5:137639031-137639031 - PCSI_0226_Pa_P_526 COSM4809055 c.1186C>T p.L396F Substitution - Missense 5:137638986-137638986 - TCGA-FW-A3R5-06 COSM3918678 c.423C>T p.D141D Substitution - coding silent 5:137692388-137692388 - TCGA-D3-A3MR-06 COSM3608787 c.189C>T p.A63A Substitution - coding silent 5:137709802-137709802 - TCGA-CZ-4858-01 COSM3365839 c.1587C>T p.N529N Substitution - coding silent 5:137628301-137628301 - TCGA-EB-A431-01 COSM3608778 c.1176C>T p.L392L Substitution - coding silent 5:137638996-137638996 - LUAD-RT-S01777 COSM382378 c.483A>C p.V161V Substitution - coding silent 5:137692328-137692328 - TCGA-IR-A3LA-01 COSM4845368 c.656C>G p.S219* Substitution - Nonsense 5:137662012-137662012 - PT22_1 COSM5943062 c.527-7_527-6insT p.? Unknown 5:137677660-137677661 - BCM375T COSM3608786 c.216C>T p.S72S Substitution - coding silent 5:137709775-137709775 - RK042_C01 COSM1633947 c.337A>T p.I113F Substitution - Missense 5:137698313-137698313 - sysucc-1640T COSM5765453 c.1130T>C p.I377T Substitution - Missense 5:137639042-137639042 - TCGA-G4-6309-01 COSM1433287 c.457C>A p.L153M Substitution - Missense 5:137692354-137692354 - Pat_54_A COSM5867334 c.1658C>T p.S553L Substitution - Missense 5:137625830-137625830 - TCGA-CK-5916-01 COSM1433284 c.1477T>C p.Y493H Substitution - Missense 5:137628411-137628411 - TCGA-AZ-4315-01 COSM1433283 c.1480G>A p.A494T Substitution - Missense 5:137628408-137628408 - HCC107 COSM1619500 c.1168G>A p.A390T Substitution - Missense 5:137639004-137639004 - TCGA-A2-A0T5-01 COSM3826812 c.9T>G p.G3G Substitution - coding silent 5:137735638-137735638 - TCGA-BR-4363-01 COSM3850310 c.1468G>A p.G490R Substitution - Missense 5:137628420-137628420 - TCGA-06-6699-01 COSM124006 c.194G>A p.R65H Substitution - Missense 5:137709797-137709797 - TCGA-A6-5661-01 COSM1433286 c.718C>T p.R240* Substitution - Nonsense 5:137661950-137661950 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.655083;Hs.655084 5q31 605775

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.L143P c.428T>C 5 137028072 BRCA - AGT IntronicInsertion . c.636+3701_636+3702insACT 5 137009532 STAD C A Synonymous p.V503V c.1509G>T 5 136964068 LUAD C G 3-UTRSNV . c.1761+1338G>C 5 136956452 HC C G Missense p.R65P c.194G>C 5 137045486 LUAD C G Missense p.S9T c.26G>C 5 137056262 LUAD C T Missense p.A530T c.1588G>A 5 136963989 STAD C T Missense p.G34R c.100G>A 5 137056188 CM C T Missense p.G490R c.1468G>A 5 136964109 STAD C T Missense p.R362Q c.1085G>A 5 136974776 STAD C T Missense p.R65H c.194G>A 5 137045486 GBM C T Missense p.R65H c.194G>A 5 137045486 HNSC C T Nonsense p.W374* c.1122G>A 5 136974739 CM C T SpliceAcceptorSNV . c.1451-1G>A 5 136964127 CM C T Synonymous p.E60E c.180G>A 5 137045500 HNSC G A 3-UTRSNV . c.1761+859C>T 5 136956931 HC G A IntronicSNV . c.1451-13C>T 5 136964139 CM G A IntronicSNV . c.526+1273C>T 5 137026701 CLL G A Missense p.L538F c.1612C>T 5 136961565 LUSC G A Missense p.P568L c.1703C>T 5 136961474 CM G A Missense p.R156C c.466C>T 5 137028034 CM G A Missense p.R362W c.1084C>T 5 136974777 HNSC G A Missense p.R430W c.1288C>T 5 136973016 CLL G A Missense p.R44W c.130C>T 5 137056158 UCEC G A Missense p.R454C c.1360C>T 5 136969816 BLCA G A Missense p.R527W c.1579C>T 5 136963998 STAD G A Synonymous p.A63A c.189C>T 5 137045491 CM G A Synonymous p.C526C c.1578C>T 5 136963999 LUSC G A Synonymous p.D368D c.1104C>T 5 136974757 RCCC G A Synonymous p.D522D c.1566C>T 5 136964011 HNSC G A Synonymous p.L124L c.372C>T 5 137028128 HNSC G A Synonymous p.N529N c.1587C>T 5 136963990 RCCC G A Synonymous p.N570N c.1710C>T 5 136961467 UCEC G A Synonymous p.P73P c.219C>T 5 137045461 LUAD G A Synonymous p.S458S c.1374C>T 5 136969802 LUAD G A Synonymous p.S489S c.1467C>T 5 136964110 STAD G A Synonymous p.S72S c.216C>T 5 137045464 CM G C Synonymous p.G401G c.1203C>G 5 136974658 BRCA G - IntronicDeletion . c.636+5671delC 5 137007563 STAD G T 3-UTRSNV . c.1761+2861C>A 5 136954929 HC G T Nonsense p.C526* c.1578C>A 5 136963999 LUAD TA - Frameshift p.Y472Rfs*17 c.1414_1415delTA 5 136969761 BRCA T A Missense p.I113F c.337A>T 5 137034002 HC T C Missense p.M476V c.1426A>G 5 136969750 CM T G IntronicSNV . c.753+365A>C 5 136997239 HC T G Synonymous p.S209S c.627A>C 5 137013243 LUAD