Annotation Summary for Cell Line: EBC-1  

Cell line primary name: EBC-1
Cell line aliases:
Gender: M
Site Primary: lung
Histology: carcinoma
Hist Subtype1: squamous_cell_carcinoma
Notes:
Source: RIKEN
Expression arrays: AGENT_p_NCLE_RNA6_HG-U133_Plus_2_G12_436484
SNP arrays: PODIA_p_NCLE_DNAAffy7_GenomeWideSNP_6_A07_437582
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in EBC-1

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
AATK p.1331_1332insTP 17 79093270 79093271 EBC1_LUNG 37 In_Frame_Ins Ins - GGGCGT rs55713566 uc010dia.2 AATK_uc010dhz.2... Hybrid_Cap...
ACACB p.R253P 12 109604770 109604770 EBC1_LUNG 37 Missense_Mutation SNP G C uc001tob.2 ACACB_uc001toc.... Hybrid_Cap... view
ADAM28 8 24211994 24211997 EBC1_LUNG 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 EBC1_LUNG 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 EBC1_LUNG 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ATM p.K2318Q 11 108196929 108196929 EBC1_LUNG 37 Missense_Mutation SNP A C uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap... view
BAD p.D29N 11 64051756 64051756 EBC1_LUNG 37 Missense_Mutation SNP C T uc001nzd.2 BAD_uc001nzc.2_... Hybrid_Cap... view
BAI1 p.N444S 8 143558854 143558854 EBC1_LUNG 37 Missense_Mutation SNP A G uc003ywm.2 Hybrid_Cap... view
BAI1 p.R977C 8 143602191 143602191 EBC1_LUNG 37 Missense_Mutation SNP C T uc003ywm.2 Hybrid_Cap... view
BTG1 12 92537706 92537707 EBC1_LUNG 37 3'UTR Ins - T rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
CACNB2 10 18828721 18828722 EBC1_LUNG 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CDC42BPA p.K1188N 1 227219105 227219105 EBC1_LUNG 37 Missense_Mutation SNP C A uc001hqr.2 CDC42BPA_uc001h... Hybrid_Cap... view
CDK11B 1 1654066 1654068 EBC1_LUNG 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CHD5 p.P1629L 1 6181191 6181191 EBC1_LUNG 37 Missense_Mutation SNP G A uc001amb.1 CHD5_uc001alz.1... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 EBC1_LUNG 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
COL3A1 p.G201A 2 189853335 189853335 EBC1_LUNG 37 Missense_Mutation SNP G C uc002uqj.1 Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 EBC1_LUNG 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CTNNA2 p.R53G 2 79971567 79971567 EBC1_LUNG 37 Missense_Mutation SNP A G uc010ysh.1 CTNNA2_uc010yse... Hybrid_Cap... view
DACH1 p.A336S 13 72204808 72204808 EBC1_LUNG 37 Missense_Mutation SNP C A uc010thn.1 DACH1_uc010tho.... Hybrid_Cap... view
DDR2 p.T681I 1 162745627 162745627 EBC1_LUNG 37 Missense_Mutation SNP C T uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap... view
DFNA5 7 24738502 24738502 EBC1_LUNG 37 3'UTR SNP T A uc010kus.1 DFNA5_uc003swz.... Hybrid_Cap... view
DGKB 7 14216345 14216346 EBC1_LUNG 37 Intron Ins - AGACT uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap...
DNAH8 6 38952247 38952248 EBC1_LUNG 37 Intron Del CA - uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap...
DNAH8 p.P4475L 6 38998119 38998119 EBC1_LUNG 37 Missense_Mutation SNP C T uc003ooe.1 Hybrid_Cap... view
DST p.C1116F 6 56499308 56499308 EBC1_LUNG 37 Missense_Mutation SNP C A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
ECM1 p.Y43Y 1 150482144 150482144 EBC1_LUNG 37 Silent SNP C T uc001euu.2 ECM1_uc010pce.1... Hybrid_Cap... view
EDN1 6 12290729 12290729 EBC1_LUNG 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EIF2AK4 p.M802I 15 40280186 40280186 EBC1_LUNG 37 Missense_Mutation SNP G A uc001zkm.1 EIF2AK4_uc010bb... Hybrid_Cap... view
EPHA4 p.V535L 2 222321333 222321333 EBC1_LUNG 37 Missense_Mutation SNP C A uc002vmq.2 EPHA4_uc002vmr.... Hybrid_Cap... view
EPHB6 p.Q926R 7 142568136 142568136 EBC1_LUNG 37 Missense_Mutation SNP A G uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap... view
FBN1 p.C748S 15 48789514 48789514 EBC1_LUNG 37 Missense_Mutation SNP A T uc001zwx.1 Hybrid_Cap... view
FLI1 11 128638217 128638217 EBC1_LUNG 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FOXP1 3 71008341 71008342 EBC1_LUNG 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
GPR112 p.G1950V X 135431714 135431714 EBC1_LUNG 37 Missense_Mutation SNP G T uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 EBC1_LUNG 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GPR137 p.P18fs 11 64051892 64051892 EBC1_LUNG 37 Frame_Shift_Del Del A - uc010rni.1 BAD_uc001nzd.2_... Hybrid_Cap...
GRIA3 X 122318386 122318387 EBC1_LUNG 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIN2B p.G763R 12 13722836 13722836 EBC1_LUNG 37 Missense_Mutation SNP C G uc001rbt.2 Hybrid_Cap... view
GRK4 4 2965776 2965777 EBC1_LUNG 37 5'UTR Ins - CGG uc003ggn.1 GRK4_uc003ggo.1... Hybrid_Cap...
GUCY2C 12 14827464 14827466 EBC1_LUNG 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 EBC1_LUNG 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HSF1 8 145538019 145538019 EBC1_LUNG 37 3'UTR SNP G A uc003zbt.3 HSF1_uc003zbu.3... Hybrid_Cap... view
HSP90B1 p.E791del 12 104341188 104341190 EBC1_LUNG 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
IL2 p.Q5K 4 123377583 123377583 EBC1_LUNG 37 Missense_Mutation SNP G T uc003ier.2 Hybrid_Cap... view
ILK 11 6630029 6630029 EBC1_LUNG 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
IRS2 p.Q1269P 13 110434595 110434595 EBC1_LUNG 37 Missense_Mutation SNP T G uc001vqv.2 Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 EBC1_LUNG 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KPNA5 p.C241L 6 117037446 117037447 EBC1_LUNG 37 Missense_Mutation DNP TG CT uc003pxh.2 Hybrid_Cap...
LRP1B p.R2219G 2 141457963 141457963 EBC1_LUNG 37 Missense_Mutation SNP G C uc002tvj.1 Hybrid_Cap... view
LRP1B p.M359L 2 141819781 141819781 EBC1_LUNG 37 Missense_Mutation SNP T A uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
LSP1 11 1874321 1874321 EBC1_LUNG 37 5'UTR SNP G A uc001lui.2 Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 EBC1_LUNG 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 15 66679649 66679650 EBC1_LUNG 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 EBC1_LUNG 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 EBC1_LUNG 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK15 p.P375L 8 144803501 144803501 EBC1_LUNG 37 Missense_Mutation SNP C T uc003yzj.2 Hybrid_Cap... view
MARK2 p.A451V 11 63670190 63670190 EBC1_LUNG 37 Missense_Mutation SNP C T uc001nxw.2 MARK2_uc001nxx.... Hybrid_Cap... view
MLL p.G3131S 11 118375998 118375998 EBC1_LUNG 37 Missense_Mutation SNP G A uc001ptb.2 MLL_uc001pta.2_... Hybrid_Cap... view
MLL3 p.D3386Y 7 151860506 151860506 EBC1_LUNG 37 Missense_Mutation SNP C A uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap... view
MLLT3 9 20346393 20346394 EBC1_LUNG 37 3'UTR Ins - A uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap...
MOS p.V120M 8 57026184 57026184 EBC1_LUNG 37 Missense_Mutation SNP C T uc011leb.1 Hybrid_Cap... view
MYLK p.E1066del 3 123419117 123419119 EBC1_LUNG 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
NAV3 p.Y2268H 12 78594339 78594339 EBC1_LUNG 37 Missense_Mutation SNP T C uc001syp.2 NAV3_uc001syo.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 EBC1_LUNG 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 EBC1_LUNG 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK1 p.R608G 4 170429410 170429410 EBC1_LUNG 37 Missense_Mutation SNP G C uc003isd.1 NEK1_uc003isb.1... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 EBC1_LUNG 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 EBC1_LUNG 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NLRP10 p.S325I 11 7982185 7982185 EBC1_LUNG 37 Missense_Mutation SNP C A uc001mfv.1 Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881820 50881821 EBC1_LUNG 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUP98 p.R1764C 11 3697502 3697502 EBC1_LUNG 37 Missense_Mutation SNP G A uc001lyh.2 NUP98_uc001lyi.... Hybrid_Cap... view
NYNRIN p.W961* 14 24883838 24883838 EBC1_LUNG 37 Nonsense_Mutation SNP G A uc001wpf.3 Hybrid_Cap... view
PALB2 p.S778T 16 23641142 23641142 EBC1_LUNG 37 Missense_Mutation SNP C G uc002dlx.1 Hybrid_Cap... view
PAPPA p.V357M 9 118950086 118950086 EBC1_LUNG 37 Missense_Mutation SNP G A uc004bjn.2 PAPPA_uc011lxp.... Hybrid_Cap... view
PCDH15 10 55581364 55581364 EBC1_LUNG 37 3'UTR SNP A C uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap... view
PDE4DIP 1 144892112 144892112 EBC1_LUNG 37 Intron SNP G C uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDGFRA 4 55130162 55130162 EBC1_LUNG 37 Intron Del T - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PDK4 7 95221928 95221928 EBC1_LUNG 37 Intron Del A - uc003uoa.2 PDK4_uc003unz.2... Hybrid_Cap...
PIK3R2 p.V425L 19 18273940 18273940 EBC1_LUNG 37 Missense_Mutation SNP G T uc002nia.1 PIK3R2_uc002nib... Hybrid_Cap... view
PLCG1 p.T61M 20 39766463 39766463 EBC1_LUNG 37 Missense_Mutation SNP C T uc002xjo.1 PLCG1_uc002xjp.... Hybrid_Cap... view
PLCG2 16 81954996 81954997 EBC1_LUNG 37 Intron Ins - T uc002fgt.2 PLCG2_uc010chg.... Hybrid_Cap...
PMS1 2 190670540 190670540 EBC1_LUNG 37 Intron Del A - uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PRKACB 1 84670439 84670440 EBC1_LUNG 37 Intron Ins - C rs67519258 uc001djl.2 PRKACB_uc001djj... Hybrid_Cap...
PRKCA 17 64298959 64298960 EBC1_LUNG 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 EBC1_LUNG 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTK6 20 62161320 62161320 EBC1_LUNG 37 Intron SNP G A uc002yfg.2 PTK6_uc011aay.1... Hybrid_Cap... view
PTPRD p.S1554_splice 9 8341979 8341979 EBC1_LUNG 37 Splice_Site_SNP SNP C A uc003zkk.2 PTPRD_uc003zkp.... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 EBC1_LUNG 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
REM1 p.R274C 20 30072156 30072156 EBC1_LUNG 37 Missense_Mutation SNP C T uc002wwa.2 NCRNA00028_uc01... Hybrid_Cap... view
RIPK2 p.A5T 8 90770301 90770301 EBC1_LUNG 37 Missense_Mutation SNP G A uc003yee.2 RIPK2_uc003yef.... Hybrid_Cap... view
RXRA 9 137328489 137328489 EBC1_LUNG 37 3'UTR SNP C T rs35678595 uc004cfb.2 RXRA_uc004cfc.1... Hybrid_Cap... view
SCD5 p.D309N 4 83552548 83552548 EBC1_LUNG 37 Missense_Mutation SNP C T uc003hna.2 Hybrid_Cap... view
SCRIB p.Q1163E 8 144885669 144885669 EBC1_LUNG 37 Missense_Mutation SNP G C uc003yzo.1 SCRIB_uc003yzn.... Hybrid_Cap... view
SEPT3 22 42393046 42393046 EBC1_LUNG 37 3'UTR SNP C T uc003bbr.3 WBP2NL_uc011ape... Hybrid_Cap... view
SGK223 p.P422S 8 8234655 8234655 EBC1_LUNG 37 Missense_Mutation SNP G A uc003wsh.3 Hybrid_Cap... view
SORL1 11 121500401 121500401 EBC1_LUNG 37 3'UTR Del A - uc001pxx.2 SORL1_uc010rzp.... Hybrid_Cap...
STK31 7 23872024 23872025 EBC1_LUNG 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TAOK3 p.I124I 12 118675943 118675943 EBC1_LUNG 37 Silent SNP G A uc001twx.2 TAOK3_uc001tww.... Hybrid_Cap... view
TET2 p.S289* 4 106155902 106155902 EBC1_LUNG 37 Nonsense_Mutation SNP C A uc011cez.1 TET2_uc003hxk.2... Hybrid_Cap... view
TG p.T2398M 8 134042222 134042222 EBC1_LUNG 37 Missense_Mutation SNP C T uc003ytw.2 TG_uc010mdw.2_M... Hybrid_Cap... view
TLR4 p.W797Y 9 120476796 120476797 EBC1_LUNG 37 Missense_Mutation DNP GG AT uc004bjz.2 TLR4_uc004bka.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 EBC1_LUNG 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNNI3K p.G839A 1 74957812 74957812 EBC1_LUNG 37 Missense_Mutation SNP G C uc001dge.1 TNNI3K_uc001dgf... Hybrid_Cap... view
TP53 p.E171* 17 7578419 7578419 EBC1_LUNG 37 Nonsense_Mutation SNP C A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 p.Y231fs 3 189582134 189582135 EBC1_LUNG 37 Frame_Shift_Ins Ins - A uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRPS1 8 116635872 116635873 EBC1_LUNG 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN 2 179391639 179391640 EBC1_LUNG 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 EBC1_LUNG 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...