Annotation Summary for Cell Line: EC-GI-10  

Cell line primary name: EC-GI-10
Cell line aliases:
Gender:
Site Primary: oesophagus
Histology: carcinoma
Hist Subtype1: NS
Notes:
Source: RIKEN
Expression arrays: BITTS_p_NCLE_RNA12_HG-U133_Plus_2_D12_698846
SNP arrays: QUAFF_p_NCLE_DNAAffy12_GenomeWideSNP_6_F12_592786
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in EC-GI-10

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ACACA 17 35656443 35656443 ECGI10_OESOPHAG... 37 Intron SNP G T uc002hno.2 ACACA_uc002hnk.... Hybrid_Cap... view
ACVR1C 2 158390344 158390344 ECGI10_OESOPHAG... 37 3'UTR Del A - uc002tzk.3 ACVR1C_uc002tzl... Hybrid_Cap...
ADAM18 p.E457Q 8 39525559 39525559 ECGI10_OESOPHAG... 37 Missense_Mutation SNP G C uc003xni.2 ADAM18_uc010lww... Hybrid_Cap... view
ADAM28 8 24211994 24211997 ECGI10_OESOPHAG... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP6 p.R1538L 14 33291632 33291632 ECGI10_OESOPHAG... 37 Missense_Mutation SNP G T uc001wrq.2 Hybrid_Cap... view
ALPK1 4 113347609 113347610 ECGI10_OESOPHAG... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 ECGI10_OESOPHAG... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
AMZ2 p.S55P 17 66246491 66246491 ECGI10_OESOPHAG... 37 Missense_Mutation SNP T C uc002jgs.1 AMZ2_uc002jgr.1... Hybrid_Cap... view
ARHGEF12 p.N1094D 11 120347372 120347372 ECGI10_OESOPHAG... 37 Missense_Mutation SNP A G uc001pxl.1 ARHGEF12_uc009z... Hybrid_Cap... view
AURKC 19 57742531 57742532 ECGI10_OESOPHAG... 37 5'UTR Ins - C uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BCL3 19 45262965 45262967 ECGI10_OESOPHAG... 37 3'UTR Del CCC - uc010xxe.1 Hybrid_Cap...
CACNB2 10 18828721 18828722 ECGI10_OESOPHAG... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CARD10 p.KE272del 22 37906309 37906314 ECGI10_OESOPHAG... 37 In_Frame_Del Del CTCCT... - uc003asx.1 CARD10_uc003ast... Hybrid_Cap...
CASK p.R130C X 41598678 41598678 ECGI10_OESOPHAG... 37 Missense_Mutation SNP G A uc004dfl.3 CASK_uc004dfm.3... Hybrid_Cap... view
CASP4 11 104822529 104822529 ECGI10_OESOPHAG... 37 Intron SNP A T uc001pid.1 CASP4_uc001pib.... Hybrid_Cap... view
CATSPERB p.T92A 14 92189428 92189428 ECGI10_OESOPHAG... 37 Missense_Mutation SNP T C uc001xzs.1 Hybrid_Cap... view
CCND2 12 4409286 4409286 ECGI10_OESOPHAG... 37 3'UTR SNP C T uc001qmo.2 Hybrid_Cap... view
CDK11B 1 1654066 1654068 ECGI10_OESOPHAG... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 ECGI10_OESOPHAG... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 3 1339681 1339686 ECGI10_OESOPHAG... 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 ECGI10_OESOPHAG... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CYP1B1 2 38297654 38297655 ECGI10_OESOPHAG... 37 3'UTR Ins - A rs9341258 uc002rqo.2 Hybrid_Cap...
DACH1 13 72014625 72014626 ECGI10_OESOPHAG... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
EGF p.E1134fs 4 110932389 110932390 ECGI10_OESOPHAG... 37 Frame_Shift_Ins Ins - C rs11569144 uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap...
EPHA6 3 97367230 97367231 ECGI10_OESOPHAG... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ERLIN2 8 37602388 37602388 ECGI10_OESOPHAG... 37 Intron SNP A G uc003xke.3 ERLIN2_uc003xkc... Hybrid_Cap... view
ETV1 7 14028708 14028708 ECGI10_OESOPHAG... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 ECGI10_OESOPHAG... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FIP1L1 p.P358P 4 54294250 54294250 ECGI10_OESOPHAG... 37 Silent SNP G A uc003gzy.2 PDGFRA_uc003haa... Hybrid_Cap... view
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 ECGI10_OESOPHAG... 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FOXP1 3 71008341 71008342 ECGI10_OESOPHAG... 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
GAK p.P96P 4 905555 905555 ECGI10_OESOPHAG... 37 Silent SNP C T uc003gbm.3 GAK_uc003gbn.3_... Hybrid_Cap... view
GATA1 p.H71P X 48649728 48649728 ECGI10_OESOPHAG... 37 Missense_Mutation SNP A C uc004dkq.3 Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 ECGI10_OESOPHAG... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GPR141 p.K168I 7 37780498 37780498 ECGI10_OESOPHAG... 37 Missense_Mutation SNP A T uc003tfm.1 Hybrid_Cap... view
GRIA3 X 122318386 122318387 ECGI10_OESOPHAG... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 ECGI10_OESOPHAG... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 ECGI10_OESOPHAG... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 ECGI10_OESOPHAG... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 ECGI10_OESOPHAG... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGB6 p.L551F 2 160993954 160993954 ECGI10_OESOPHAG... 37 Missense_Mutation SNP G A uc002ubh.2 ITGB6_uc010fou.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 ECGI10_OESOPHAG... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 ECGI10_OESOPHAG... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LATS2 13 21620222 21620223 ECGI10_OESOPHAG... 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
LETM2 8 38250547 38250547 ECGI10_OESOPHAG... 37 Intron SNP G C uc003xlm.1 LETM2_uc003xlk.... Hybrid_Cap... view
MAP2K5 p.I99V 15 67873134 67873134 ECGI10_OESOPHAG... 37 Missense_Mutation SNP A G uc002aqu.2 MAP2K5_uc002aqt... Hybrid_Cap... view
MAP3K1 p.M374V 5 56161251 56161251 ECGI10_OESOPHAG... 37 Missense_Mutation SNP A G uc003jqw.3 Hybrid_Cap... view
MAP3K1 p.T949del 5 56177849 56177851 ECGI10_OESOPHAG... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 ECGI10_OESOPHAG... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 ECGI10_OESOPHAG... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MECOM 3 169381200 169381201 ECGI10_OESOPHAG... 37 5'UTR Ins - T uc011bpj.1 MECOM_uc011bpk.... Hybrid_Cap...
MLL3 p.Y816fs 7 151945071 151945072 ECGI10_OESOPHAG... 37 Frame_Shift_Ins Ins - T uc003wla.2 Hybrid_Cap...
MYH9 p.R1780Q 22 36681311 36681311 ECGI10_OESOPHAG... 37 Missense_Mutation SNP C T uc003apg.2 Hybrid_Cap... view
MYST4 p.E1104del 10 76781906 76781908 ECGI10_OESOPHAG... 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
NCAM1 11 112832340 112832340 ECGI10_OESOPHAG... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 p.T210I 11 113085157 113085157 ECGI10_OESOPHAG... 37 Missense_Mutation SNP C T uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 ECGI10_OESOPHAG... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 ECGI10_OESOPHAG... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NPR1 p.S437L 1 153655898 153655898 ECGI10_OESOPHAG... 37 Missense_Mutation SNP C T uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap... view
NPR1 1 153665919 153665920 ECGI10_OESOPHAG... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPRL2 3 50384978 50384978 ECGI10_OESOPHAG... 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 ECGI10_OESOPHAG... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUP153 p.S1374F 6 17624938 17624938 ECGI10_OESOPHAG... 37 Missense_Mutation SNP G A uc011dje.1 NUP153_uc003ncd... Hybrid_Cap... view
NUP153 p.G853_splice 6 17633077 17633078 ECGI10_OESOPHAG... 37 Splice_Site_Ins Ins - G rs71843160 uc011dje.1 NUP153_uc003ncd... Hybrid_Cap...
NUP214 p.M112T 9 134003812 134003812 ECGI10_OESOPHAG... 37 Missense_Mutation SNP T C uc004cag.2 NUP214_uc004cah... Hybrid_Cap... view
PICALM 11 85669982 85669982 ECGI10_OESOPHAG... 37 3'UTR SNP G T uc001pbm.2 PICALM_uc001pbl... Hybrid_Cap... view
PIK3C2A 11 17111198 17111199 ECGI10_OESOPHAG... 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PIK3C2G 12 18800990 18800990 ECGI10_OESOPHAG... 37 3'UTR Del A - rs16914368 uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PMS1 2 190670539 190670540 ECGI10_OESOPHAG... 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PRAME p.V384I 22 22890869 22890869 ECGI10_OESOPHAG... 37 Missense_Mutation SNP C T uc002zwf.2 LOC96610_uc011a... Hybrid_Cap... view
PREX2 8 69143713 69143715 ECGI10_OESOPHAG... 37 3'UTR Del TTT - uc003xxv.1 Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 ECGI10_OESOPHAG... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RAD51 15 40990955 40990956 ECGI10_OESOPHAG... 37 5'UTR Ins - A rs55714242 uc010bbx.2 RAD51_uc001zmi.... Hybrid_Cap...
RAPGEF2 4 160189200 160189201 ECGI10_OESOPHAG... 37 5'UTR Ins - T rs72011511 uc003iqg.3 Hybrid_Cap...
RARG p.A13fs 12 53621292 53621293 ECGI10_OESOPHAG... 37 Frame_Shift_Ins Ins - C uc001sce.2 RARG_uc001scf.2... Hybrid_Cap...
RBPJ p.E229G 4 26426265 26426265 ECGI10_OESOPHAG... 37 Missense_Mutation SNP A G rs5007633 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap... view
RBPJ p.R238* 4 26426291 26426291 ECGI10_OESOPHAG... 37 Nonsense_Mutation SNP C T rs5007634 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 ECGI10_OESOPHAG... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RELA p.A269T 11 65425863 65425863 ECGI10_OESOPHAG... 37 Missense_Mutation SNP C T uc010ron.1 RELA_uc001ofg.2... Hybrid_Cap... view
SORL1 p.K1634M 11 121476233 121476233 ECGI10_OESOPHAG... 37 Missense_Mutation SNP A T uc001pxx.2 SORL1_uc010rzp.... Hybrid_Cap... view
SOX2 3 181431226 181431227 ECGI10_OESOPHAG... 37 3'UTR Ins - A rs80135245 uc003fkx.2 SOX2OT_uc003fkv... Hybrid_Cap...
SSU72 1 1477324 1477325 ECGI10_OESOPHAG... 37 3'UTR Del CA - rs72502747 uc001agd.2 C1orf70_uc009vk... Hybrid_Cap...
STK31 7 23872024 23872025 ECGI10_OESOPHAG... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STRADA 17 61781132 61781132 ECGI10_OESOPHAG... 37 Intron SNP G C uc002jbm.2 STRADA_uc002jbn... Hybrid_Cap... view
TCERG1L 10 132891407 132891407 ECGI10_OESOPHAG... 37 3'UTR SNP T C uc001lkp.2 Hybrid_Cap... view
TEC 4 48139307 48139310 ECGI10_OESOPHAG... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TET2 4 106158624 106158624 ECGI10_OESOPHAG... 37 Intron SNP A G uc011cez.1 TET2_uc003hxk.2... Hybrid_Cap... view
TNNI3K p.R507I 1 74832979 74832979 ECGI10_OESOPHAG... 37 Missense_Mutation SNP G T uc001dge.1 TNNI3K_uc001dgc... Hybrid_Cap... view
TP53 p.R273L 17 7577120 7577120 ECGI10_OESOPHAG... 37 Missense_Mutation SNP C A rs28934576 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP53 p.Y234C 17 7577580 7577580 ECGI10_OESOPHAG... 37 Missense_Mutation SNP T C uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 ECGI10_OESOPHAG... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TPM3 1 154155713 154155713 ECGI10_OESOPHAG... 37 Intron SNP G A uc001fec.1 TPM3_uc010pei.1... Hybrid_Cap... view
TRIM33 1 114940212 114940212 ECGI10_OESOPHAG... 37 3'UTR Del T - uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRPS1 p.H76R 8 116632098 116632098 ECGI10_OESOPHAG... 37 Missense_Mutation SNP T C uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap... view
TSSK3 1 32828157 32828160 ECGI10_OESOPHAG... 37 5'UTR Del CAGA - uc001bvf.2 Hybrid_Cap...
TTN 2 179391639 179391640 ECGI10_OESOPHAG... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 ECGI10_OESOPHAG... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
ZNF423 p.E695K 16 49670980 49670980 ECGI10_OESOPHAG... 37 Missense_Mutation SNP C T uc002efs.2 ZNF423_uc010vgn... Hybrid_Cap... view