Annotation Summary for Cell Line: EJM  

Cell line primary name: EJM
Cell line aliases:
Gender: F
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: plasma_cell_myeloma
Notes:
Source: DSMZ
Expression arrays: WATCH_p_NCLE_RNA8_HG-U133_Plus_2_H06_474692
SNP arrays: CHARY_p_NCLE_DNAAffy9_GenomeWideSNP_6_B02_490372
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in EJM

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 EJM_HAEMATOPOIE... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ACVR2A 2 148684856 148684856 EJM_HAEMATOPOIE... 37 3'UTR SNP C T uc002twg.2 ACVR2A_uc010zbn... Hybrid_Cap... view
ADAM17 2 9630245 9630245 EJM_HAEMATOPOIE... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 EJM_HAEMATOPOIE... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTS19 p.V1039M 5 129037259 129037259 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc003kvb.1 ADAMTS19_uc010j... Hybrid_Cap... view
ADRBK1 p.Q430H 11 67050661 67050661 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP G C uc009yrn.1 ADRBK1_uc009yrm... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 EJM_HAEMATOPOIE... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 EJM_HAEMATOPOIE... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALS2 p.G1475A 2 202571725 202571725 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP C G uc002uyo.2 ALS2_uc010ftl.2... Hybrid_Cap... view
ANAPC5 12 121765202 121765202 EJM_HAEMATOPOIE... 37 Intron SNP G C uc001uag.2 ANAPC5_uc010szu... Hybrid_Cap... view
ARID1A p.R635K 1 27059267 27059267 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc001bmv.1 ARID1A_uc001bmt... Hybrid_Cap... view
AXL p.V459L 19 41748850 41748850 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP G C uc010ehj.2 CYP2F1_uc010xvw... Hybrid_Cap... view
BMP4 p.E149Q 14 54417532 54417532 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP C G uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap... view
CAD p.D791N 2 27454419 27454419 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc002rji.2 CAD_uc010eyw.2_... Hybrid_Cap... view
CAMKK2 p.S285C 12 121693406 121693406 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP G C uc001tzu.2 CAMKK2_uc001tzt... Hybrid_Cap... view
CARS p.P229S 11 3059396 3059396 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc001lxf.2 CARS_uc001lxe.2... Hybrid_Cap... view
CDC34 p.D227N 19 541520 541520 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP G A rs16990650 uc002lov.2 GZMM_uc002low.1... Hybrid_Cap... view
CDH11 p.R137W 16 65032579 65032579 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc002eoi.2 CDH11_uc010cdn.... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 EJM_HAEMATOPOIE... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CIT p.D532G 12 120220392 120220392 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP T C uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap... view
CLPTM1 p.R304C 19 45490553 45490553 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc002pai.2 CLPTM1_uc010ejv... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 EJM_HAEMATOPOIE... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
COL3A1 p.E232K 2 189854825 189854825 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc002uqj.1 COL3A1_uc010frw... Hybrid_Cap... view
COL4A3BP 5 74675140 74675140 EJM_HAEMATOPOIE... 37 Intron SNP G C uc003kdt.2 COL4A3BP_uc011c... Hybrid_Cap... view
CPNE5 p.R564C 6 36710137 36710137 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc003omr.1 CPNE5_uc003omp.... Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 EJM_HAEMATOPOIE... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CSPG4 p.L518fs 15 75981842 75981854 EJM_HAEMATOPOIE... 37 Frame_Shift_Del Del CCTCC... - uc002baw.2 Hybrid_Cap...
CTNNB1 3 41278029 41278029 EJM_HAEMATOPOIE... 37 Intron SNP C T uc010hia.1 CTNNB1_uc003ckp... Hybrid_Cap... view
DAPK1 p.I157I 9 90254316 90254316 EJM_HAEMATOPOIE... 37 Silent SNP C T uc004apc.2 DAPK1_uc004ape.... Hybrid_Cap... view
DIABLO p.A60V 12 122709063 122709063 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc010tab.1 DIABLO_uc010taa... Hybrid_Cap... view
DNAH8 p.P2557L 6 38854628 38854628 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc003ooe.1 Hybrid_Cap... view
EIF4E 4 99808137 99808141 EJM_HAEMATOPOIE... 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
EP300 22 41574970 41574972 EJM_HAEMATOPOIE... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA5 p.I678N 4 66231670 66231670 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP A T uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 EJM_HAEMATOPOIE... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ERBB3 12 56482736 56482736 EJM_HAEMATOPOIE... 37 Intron SNP G A uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap... view
EWSR1 p.D358N 22 29688488 29688488 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc003aev.2 EWSR1_uc003aet.... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 EJM_HAEMATOPOIE... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 EJM_HAEMATOPOIE... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 EJM_HAEMATOPOIE... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT4 p.S436S 5 180052982 180052982 EJM_HAEMATOPOIE... 37 Silent SNP C T uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap... view
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 EJM_HAEMATOPOIE... 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FN1 2 216244182 216244185 EJM_HAEMATOPOIE... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FN1 p.S608L 2 216279678 216279678 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap... view
GRB2 17 73316373 73316373 EJM_HAEMATOPOIE... 37 3'UTR SNP G C uc002jnx.3 GRB2_uc002jny.3... Hybrid_Cap... view
GRIA3 X 122318386 122318387 EJM_HAEMATOPOIE... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 EJM_HAEMATOPOIE... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HDAC4 p.D198N 2 240085518 240085518 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc002vyk.3 HDAC4_uc010fyz.... Hybrid_Cap... view
HERC2 p.G4833E 15 28356916 28356916 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc001zbj.2 HERC2_uc001zbi.... Hybrid_Cap... view
HIF1A p.M528T 14 62207266 62207266 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP T C uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap... view
HNF1A 12 121434630 121434631 EJM_HAEMATOPOIE... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
IL1R1 2 102793339 102793339 EJM_HAEMATOPOIE... 37 3'UTR SNP G A uc002tbq.2 IL1R1_uc010fix.... Hybrid_Cap... view
IL6ST p.E886Q 5 55237011 55237011 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP C G uc003jqq.2 IL6ST_uc010iwb.... Hybrid_Cap... view
ILK 11 6630029 6630029 EJM_HAEMATOPOIE... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
KIAA1409 p.K1687N 14 94089105 94089105 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP G C uc001ybv.1 KIAA1409_uc001y... Hybrid_Cap... view
KLK7 19 51480672 51480675 EJM_HAEMATOPOIE... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LAMA1 p.R1266T 18 7010275 7010275 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP C G uc002knm.2 LAMA1_uc010wzj.... Hybrid_Cap... view
LAMA1 p.S1860F 18 6985317 6985317 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc002knm.2 LAMA1_uc010wzj.... Hybrid_Cap... view
LRP1B p.R686W 2 141773399 141773399 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
LRRK2 12 40761431 40761431 EJM_HAEMATOPOIE... 37 Intron SNP T A uc001rmg.3 LRRK2_uc009zjw.... Hybrid_Cap... view
MALT1 p.R719Q 18 56414755 56414755 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc002lhm.1 MALT1_uc002lhn.... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 EJM_HAEMATOPOIE... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 EJM_HAEMATOPOIE... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K12 p.E475K 12 53877443 53877443 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc001sdn.1 MAP3K12_uc001sd... Hybrid_Cap... view
MAP3K12 p.R453_splice 12 53877508 53877508 EJM_HAEMATOPOIE... 37 Splice_Site_SNP SNP C G uc001sdn.1 MAP3K12_uc001sd... Hybrid_Cap... view
MAP3K14 p.R218_splice 17 43364293 43364294 EJM_HAEMATOPOIE... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 EJM_HAEMATOPOIE... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MAPKBP1 15 42107712 42107712 EJM_HAEMATOPOIE... 37 Intron SNP C T uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap... view
MARK1 p.K73N 1 220752863 220752863 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP A T uc009xdw.2 MARK1_uc001hml.... Hybrid_Cap... view
MLL p.S2411R 11 118373840 118373840 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP C A uc001ptb.2 MLL_uc001pta.2_... Hybrid_Cap... view
MSH3 p.PPA66del 5 79950742 79950750 EJM_HAEMATOPOIE... 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MYBL2 p.A657S 20 42343918 42343918 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP G T uc002xlb.1 MYBL2_uc010zwj.... Hybrid_Cap... view
MYD88 p.E284K 3 38182673 38182673 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc003chx.2 MYD88_uc011ayi.... Hybrid_Cap... view
MYH10 p.E1904Q 17 8380363 8380363 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP C G uc002glm.2 MYH10_uc002gll.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 EJM_HAEMATOPOIE... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 EJM_HAEMATOPOIE... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 EJM_HAEMATOPOIE... 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 EJM_HAEMATOPOIE... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFATC1 18 77287653 77287654 EJM_HAEMATOPOIE... 37 3'UTR Del AA - uc010xfg.1 NFATC1_uc002lnd... Hybrid_Cap...
NFATC1 18 77287596 77287596 EJM_HAEMATOPOIE... 37 3'UTR SNP C T uc010xfg.1 NFATC1_uc002lnd... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881820 50881821 EJM_HAEMATOPOIE... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR3C1 p.E490K 5 142689665 142689665 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc003lmy.2 NR3C1_uc003lmz.... Hybrid_Cap... view
PAX3 2 223158653 223158653 EJM_HAEMATOPOIE... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PIGU p.L247V 20 33176300 33176300 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP G C uc002xas.2 PIGU_uc010zul.1... Hybrid_Cap... view
PIK3C2B p.S225T 1 204438258 204438258 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP A T uc001haw.2 PIK3C2B_uc010pq... Hybrid_Cap... view
PIK3CB 3 138426266 138426266 EJM_HAEMATOPOIE... 37 Intron SNP C A uc011bmq.1 PIK3CB_uc011bmn... Hybrid_Cap... view
PRKCE 2 46412104 46412104 EJM_HAEMATOPOIE... 37 3'UTR SNP G A uc002rut.2 Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 EJM_HAEMATOPOIE... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTPRT p.R936P 20 40770575 40770575 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP C G uc010ggj.2 PTPRT_uc002xkg.... Hybrid_Cap... view
RAC1 p.D63N 7 6431634 6431634 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc003spw.2 RAC1_uc003spx.2... Hybrid_Cap... view
RGL1 p.E595* 1 183881331 183881331 EJM_HAEMATOPOIE... 37 Nonsense_Mutation SNP G T uc001gqm.2 RGL1_uc010pof.1... Hybrid_Cap... view
RNASEL p.R597Q 1 182550475 182550475 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc001gpj.1 RNASEL_uc009wxz... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 EJM_HAEMATOPOIE... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 EJM_HAEMATOPOIE... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SMC2 p.M156I 9 106861951 106861951 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc004bbv.2 SMC2_uc004bbu.1... Hybrid_Cap... view
SNX19 p.E331del 11 130784841 130784843 EJM_HAEMATOPOIE... 37 In_Frame_Del Del CTT - uc001qgk.3 SNX19_uc010sce.... Hybrid_Cap...
STK25 2 242435659 242435662 EJM_HAEMATOPOIE... 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 p.S477C 7 23808627 23808627 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP C G uc003sws.3 STK31_uc003swt.... Hybrid_Cap... view
TEC 4 48139307 48139310 EJM_HAEMATOPOIE... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TET2 p.E829K 4 106157521 106157521 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc011cez.1 TET2_uc003hxk.2... Hybrid_Cap... view
TGS1 p.M713I 8 56717591 56717591 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc003xsj.3 TGS1_uc010lyh.2... Hybrid_Cap... view
TLK1 2 171850178 171850179 EJM_HAEMATOPOIE... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TP53 p.K132N 17 7578534 7578534 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP C G uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TPR p.E953K 1 186316510 186316510 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc001grv.2 Hybrid_Cap... view
TRIM33 1 114940215 114940216 EJM_HAEMATOPOIE... 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRIM42 3 140396964 140396964 EJM_HAEMATOPOIE... 37 5'UTR SNP G A uc003eto.1 Hybrid_Cap... view
TRIM42 3 140396992 140396992 EJM_HAEMATOPOIE... 37 5'UTR SNP C G uc003eto.1 Hybrid_Cap... view
TSSK2 p.C139Y 22 19119328 19119328 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc002zow.2 DGCR14_uc002zot... Hybrid_Cap... view
UBE3B 12 109947357 109947358 EJM_HAEMATOPOIE... 37 Intron Ins - T uc001top.2 UBE3B_uc001toq.... Hybrid_Cap...
UBE3B 12 109972381 109972381 EJM_HAEMATOPOIE... 37 Intron SNP G A uc001top.2 UBE3B_uc001toq.... Hybrid_Cap... view
UNC13C p.Q1575H 15 54685257 54685257 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP G C uc002ack.2 UNC13C_uc002acl... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 EJM_HAEMATOPOIE... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
ZNF608 p.R875H 5 123983453 123983453 EJM_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc003ktq.1 ZNF608_uc003ktr... Hybrid_Cap... view