Annotation Summary for Cell Line: EPLC-272H  

Cell line primary name: EPLC-272H
Cell line aliases:
Gender: M
Site Primary: lung
Histology: carcinoma
Hist Subtype1: squamous_cell_carcinoma
Notes:
Source: DSMZ
Expression arrays: CASED_p_NCLE_RNA4_HG-U133_Plus_2_H05_383766
SNP arrays: HONEY_p_NCLE_DNAAffy3_S_GenomeWideSNP_6_H04_293454
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in EPLC-272H

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
AAK1 p.541_542QQ>Q 2 69741754 69741756 EPLC272H_LUNG 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ACACA 17 35766564 35766564 EPLC272H_LUNG 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ACOXL p.Q7R 2 111525986 111525986 EPLC272H_LUNG 37 Missense_Mutation SNP A G uc010yxk.1 ACOXL_uc010fkc.... Hybrid_Cap... view
ADAM17 2 9630245 9630245 EPLC272H_LUNG 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 EPLC272H_LUNG 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 EPLC272H_LUNG 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP4 X 49955600 49955600 EPLC272H_LUNG 37 3'UTR SNP A T uc004dow.1 AKAP4_uc004dov.... Hybrid_Cap... view
AKAP9 p.E932K 7 91632025 91632025 EPLC272H_LUNG 37 Missense_Mutation SNP G A uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap... view
AKAP9 p.1335_1336insQ 7 91652178 91652179 EPLC272H_LUNG 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 EPLC272H_LUNG 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ALS2 2 202587706 202587707 EPLC272H_LUNG 37 Intron Ins - A rs3219165 uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap...
ALS2 2 202625499 202625499 EPLC272H_LUNG 37 Intron SNP A C uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap... view
ARID1A 1 27107263 27107264 EPLC272H_LUNG 37 3'UTR Ins - C rs3841356 uc001bmv.1 ARID1A_uc001bmu... Hybrid_Cap...
ASPH p.A264_splice 8 62550924 62550925 EPLC272H_LUNG 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
BIRC6 p.P582L 2 32640104 32640104 EPLC272H_LUNG 37 Missense_Mutation SNP C T uc010ezu.2 Hybrid_Cap... view
CAMK2D p.F414L 4 114381367 114381367 EPLC272H_LUNG 37 Missense_Mutation SNP A T uc003ibo.3 CAMK2D_uc003ibi... Hybrid_Cap... view
CARD10 p.KE272del 22 37906309 37906314 EPLC272H_LUNG 37 In_Frame_Del Del CTCCT... - uc003asx.1 CARD10_uc003ast... Hybrid_Cap...
CDK11B 1 1654066 1654068 EPLC272H_LUNG 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK3 p.S315L 17 74001446 74001446 EPLC272H_LUNG 37 Missense_Mutation SNP C T uc002jqg.3 CDK3_uc010dgt.2... Hybrid_Cap... view
CHD8 p.P79T 14 21897266 21897266 EPLC272H_LUNG 37 Missense_Mutation SNP G T uc001was.1 CHD8_uc001war.1... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 EPLC272H_LUNG 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREBBP p.M1798I 16 3779654 3779654 EPLC272H_LUNG 37 Missense_Mutation SNP C T uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CREBBP p.A921V 16 3820689 3820689 EPLC272H_LUNG 37 Missense_Mutation SNP G A uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CSNK2A1 p.G369S 20 464676 464676 EPLC272H_LUNG 37 Missense_Mutation SNP C T uc002wdw.1 CSNK2A1_uc002wd... Hybrid_Cap... view
CXCL12 10 44873992 44873993 EPLC272H_LUNG 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DNAH8 p.P4422T 6 38997959 38997959 EPLC272H_LUNG 37 Missense_Mutation SNP C A uc003ooe.1 Hybrid_Cap... view
DST p.L2412V 6 56437028 56437028 EPLC272H_LUNG 37 Missense_Mutation SNP G C uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST 6 56473064 56473064 EPLC272H_LUNG 37 Intron SNP A C uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
EDN1 6 12290729 12290729 EPLC272H_LUNG 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EDN1 p.S188S 6 12296225 12296225 EPLC272H_LUNG 37 Silent SNP A G uc003nae.3 EDN1_uc003nad.2... Hybrid_Cap... view
EDNRA p.W146G 4 148441018 148441018 EPLC272H_LUNG 37 Missense_Mutation SNP T G uc003iky.2 EDNRA_uc011cid.... Hybrid_Cap... view
EIF2AK3 p.I917N 2 88874251 88874251 EPLC272H_LUNG 37 Missense_Mutation SNP A T uc002stc.3 Hybrid_Cap... view
EIF4E 4 99808137 99808141 EPLC272H_LUNG 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
EP300 22 41574970 41574972 EPLC272H_LUNG 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA3 p.F765L 3 89480458 89480458 EPLC272H_LUNG 37 Missense_Mutation SNP C A uc003dqy.2 EPHA3_uc010hon.... Hybrid_Cap... view
ETV1 7 14028708 14028708 EPLC272H_LUNG 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
F8 p.P1999T X 154132184 154132184 EPLC272H_LUNG 37 Missense_Mutation SNP G T uc004fmt.2 F8_uc010nvi.1_M... Hybrid_Cap... view
F8 p.P165L X 154221318 154221318 EPLC272H_LUNG 37 Missense_Mutation SNP G A uc004fmt.2 F8_uc011mzx.1_M... Hybrid_Cap... view
FLI1 11 128638217 128638217 EPLC272H_LUNG 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FMN2 p.Q242* 1 240256133 240256133 EPLC272H_LUNG 37 Nonsense_Mutation SNP C T uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap... view
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 EPLC272H_LUNG 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FN1 2 216244182 216244185 EPLC272H_LUNG 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FSCB p.E548* 14 44974549 44974549 EPLC272H_LUNG 37 Nonsense_Mutation SNP C A uc001wvn.2 Hybrid_Cap... view
GPC3 X 132888208 132888208 EPLC272H_LUNG 37 Intron Del A - uc010nrn.1 GPC3_uc004exd.1... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 EPLC272H_LUNG 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 EPLC272H_LUNG 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIK1 p.S787D 21 30927620 30927621 EPLC272H_LUNG 37 Missense_Mutation DNP GA TC uc011acs.1 GRIK1_uc002ynn.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 EPLC272H_LUNG 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 EPLC272H_LUNG 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 EPLC272H_LUNG 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
IL2RA 10 6054712 6054712 EPLC272H_LUNG 37 3'UTR SNP C T uc001iiz.1 IL2RA_uc009xih.... Hybrid_Cap... view
ILK 11 6630029 6630029 EPLC272H_LUNG 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
IRF4 p.A370G 6 405027 405027 EPLC272H_LUNG 37 Missense_Mutation SNP C G uc003msz.3 IRF4_uc003mta.3... Hybrid_Cap... view
ITPR1 3 4687470 4687471 EPLC272H_LUNG 37 Intron Ins - CT rs33946275 uc003bqa.2 ITPR1_uc010hbz.... Hybrid_Cap...
LAMA1 p.G1470A 18 6999970 6999970 EPLC272H_LUNG 37 Missense_Mutation SNP C G uc002knm.2 LAMA1_uc010wzj.... Hybrid_Cap... view
LMNB2 19 2430611 2430611 EPLC272H_LUNG 37 3'UTR SNP C G uc002lvy.2 TIMM13_uc002lvx... Hybrid_Cap... view
LRP1B p.H3205Q 2 141232717 141232717 EPLC272H_LUNG 37 Missense_Mutation SNP A T uc002tvj.1 Hybrid_Cap... view
LRP1B p.E71D 2 142238095 142238095 EPLC272H_LUNG 37 Missense_Mutation SNP C A uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
MAF 16 79628537 79628537 EPLC272H_LUNG 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 EPLC272H_LUNG 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 EPLC272H_LUNG 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP4K4 p.D1234Y 2 102504360 102504360 EPLC272H_LUNG 37 Missense_Mutation SNP G T uc002tbc.2 MAP4K4_uc002tbd... Hybrid_Cap... view
MAPK14 6 36076345 36076354 EPLC272H_LUNG 37 3'UTR Del GTGTG... - rs80147786 uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 EPLC272H_LUNG 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MCM3AP p.E1875Q 21 47660735 47660735 EPLC272H_LUNG 37 Missense_Mutation SNP C G uc002zir.1 MCM3APAS_uc002z... Hybrid_Cap... view
MDM2 12 69202866 69202866 EPLC272H_LUNG 37 Intron SNP G A uc001sui.2 MDM2_uc009zri.2... Hybrid_Cap... view
MLLT3 9 20346377 20346378 EPLC272H_LUNG 37 3'UTR Ins - A rs66943046 uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap...
MSH3 p.PPA66del 5 79950742 79950750 EPLC272H_LUNG 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
N4BP2 p.P63fs 4 40099149 40099162 EPLC272H_LUNG 37 Frame_Shift_Del Del TGATG... - uc003guy.3 N4BP2_uc010ifq.... Hybrid_Cap...
NACA p.I1716V 12 57110168 57110168 EPLC272H_LUNG 37 Missense_Mutation SNP T C uc009zoy.1 NACA_uc001slz.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 EPLC272H_LUNG 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 EPLC272H_LUNG 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEDD8 p.H68Y 14 24686377 24686377 EPLC272H_LUNG 37 Missense_Mutation SNP G A uc001wnn.2 CHMP4A_uc001wnj... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 EPLC272H_LUNG 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NF1 p.E2608* 17 29684061 29684061 EPLC272H_LUNG 37 Nonsense_Mutation SNP G T uc002hgg.2 NF1_uc002hgh.2_... Hybrid_Cap... view
NFIA 1 61921185 61921186 EPLC272H_LUNG 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NIPBL p.H1920Q 5 37026381 37026381 EPLC272H_LUNG 37 Missense_Mutation SNP C G uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881822 50881823 EPLC272H_LUNG 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NRK X 105199691 105199691 EPLC272H_LUNG 37 3'UTR SNP G T uc004emd.2 NRK_uc011msi.1_... Hybrid_Cap... view
PAX3 2 223066017 223066018 EPLC272H_LUNG 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 EPLC272H_LUNG 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.Q1665fs 1 144873963 144873963 EPLC272H_LUNG 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 EPLC272H_LUNG 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDK4 7 95214874 95214874 EPLC272H_LUNG 37 3'UTR SNP G C uc003uoa.2 PDK4_uc003unz.2... Hybrid_Cap... view
PDZRN4 12 41831701 41831701 EPLC272H_LUNG 37 Intron SNP G T uc010skn.1 PDZRN4_uc001rmq... Hybrid_Cap... view
PGGT1B 5 114548071 114548072 EPLC272H_LUNG 37 3'UTR Ins - C uc003kqw.3 PGGT1B_uc003kqx... Hybrid_Cap...
PGR 11 100933598 100933599 EPLC272H_LUNG 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3R1 5 67584340 67584341 EPLC272H_LUNG 37 Intron Ins - CGAGC rs72310992 uc003jva.2 PIK3R1_uc003jvb... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 EPLC272H_LUNG 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RASA1 p.E155* 5 86564731 86564731 EPLC272H_LUNG 37 Nonsense_Mutation SNP G T uc003kiw.2 RASA1_uc010jav.... Hybrid_Cap... view
RBPJ p.R238* 4 26426291 26426291 EPLC272H_LUNG 37 Nonsense_Mutation SNP C T rs5007634 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 EPLC272H_LUNG 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RFC4 p.R175L 3 186510623 186510623 EPLC272H_LUNG 37 Missense_Mutation SNP C A uc003fqz.2 RFC4_uc011bsc.1... Hybrid_Cap... view
RGL3 19 11527163 11527163 EPLC272H_LUNG 37 Intron SNP A G uc002mro.2 RGL3_uc002mrn.2... Hybrid_Cap... view
RGL4 22 24040988 24040988 EPLC272H_LUNG 37 Intron SNP G A uc002zxn.2 LOC91316_uc002z... Hybrid_Cap... view
RICTOR p.R821T 5 38957791 38957791 EPLC272H_LUNG 37 Missense_Mutation SNP C G uc003jlo.2 RICTOR_uc003jlp... Hybrid_Cap... view
ROBO1 p.R458* 3 78719422 78719422 EPLC272H_LUNG 37 Nonsense_Mutation SNP G A uc003dqe.2 ROBO1_uc003dqb.... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 EPLC272H_LUNG 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 EPLC272H_LUNG 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SMARCA4 p.V268M 19 11097622 11097622 EPLC272H_LUNG 37 Missense_Mutation SNP G A uc010dxo.2 SMARCA4_uc002mq... Hybrid_Cap... view
STAG3 p.R717C 7 99798903 99798903 EPLC272H_LUNG 37 Missense_Mutation SNP C T uc003utx.1 STAG3_uc010lgs.... Hybrid_Cap... view
STK31 7 23872024 23872025 EPLC272H_LUNG 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TBX18 p.V239A 6 85466471 85466471 EPLC272H_LUNG 37 Missense_Mutation SNP A G uc003pkl.1 TBX18_uc010kbq.... Hybrid_Cap... view
TCF21 6 134210497 134210498 EPLC272H_LUNG 37 5'UTR Ins - TCTC rs35199378 uc003qei.3 TCF21_uc003qej.... Hybrid_Cap...
TEK p.V20V 9 27157836 27157836 EPLC272H_LUNG 37 Silent SNP G T uc003zqi.3 TEK_uc010mjc.1_... Hybrid_Cap... view
TNFRSF11B p.G187R 8 119941010 119941010 EPLC272H_LUNG 37 Missense_Mutation SNP C T uc003yon.3 TNFRSF11B_uc010... Hybrid_Cap... view
TNKS2 p.F358L 10 93588133 93588133 EPLC272H_LUNG 37 Missense_Mutation SNP C G uc001khp.2 Hybrid_Cap... view
TOPBP1 p.D1107N 3 133339051 133339051 EPLC272H_LUNG 37 Missense_Mutation SNP C T uc003eps.2 TOPBP1_uc003ept... Hybrid_Cap... view
TP63 3 189507518 189507519 EPLC272H_LUNG 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRPS1 8 116635872 116635873 EPLC272H_LUNG 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TSC1 9 135771333 135771333 EPLC272H_LUNG 37 3'UTR Del A - rs115091888 uc004cca.2 TSC1_uc004ccb.3... Hybrid_Cap...
TTN 2 179391639 179391640 EPLC272H_LUNG 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.W28887* 2 179411888 179411888 EPLC272H_LUNG 37 Nonsense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.L19078F 2 179449432 179449432 EPLC272H_LUNG 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.T13895N 2 179478622 179478622 EPLC272H_LUNG 37 Missense_Mutation SNP G T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN 2 179622490 179622490 EPLC272H_LUNG 37 Intron SNP G T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
UBR5 p.T529I 8 103338787 103338787 EPLC272H_LUNG 37 Missense_Mutation SNP G A uc003ykr.1 UBR5_uc003yks.1... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 EPLC272H_LUNG 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
ZFYVE9 p.T1249del 1 52803517 52803519 EPLC272H_LUNG 37 In_Frame_Del Del CAC - uc001cto.2 ZFYVE9_uc001ctp... Hybrid_Cap...
ZNF423 p.N476T 16 49671636 49671636 EPLC272H_LUNG 37 Missense_Mutation SNP T G uc002efs.2 ZNF423_uc010vgn... Hybrid_Cap... view