Annotation Summary for Cell Line: EHEB  

Cell line primary name: EHEB
Cell line aliases:
Gender: F
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma
Notes:
Source: DSMZ
Expression arrays: SILOS_p_NCLE_RNA9_HG-U133_Plus_2_F06_523632
SNP arrays: CHARY_p_NCLE_DNAAffy9_GenomeWideSNP_6_F11_490410
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in EHEB

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ADAM17 2 9630245 9630245 EHEB_HAEMATOPOI... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 EHEB_HAEMATOPOI... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 EHEB_HAEMATOPOI... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AURKC 19 57742494 57742507 EHEB_HAEMATOPOI... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BCR 22 23631813 23631814 EHEB_HAEMATOPOI... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BTG1 12 92537706 92537707 EHEB_HAEMATOPOI... 37 3'UTR Ins - T rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
CAD p.N154S 2 27445170 27445170 EHEB_HAEMATOPOI... 37 Missense_Mutation SNP A G uc002rji.2 CAD_uc010eyw.2_... Hybrid_Cap... view
CCNA1 p.R103I 13 37011776 37011776 EHEB_HAEMATOPOI... 37 Missense_Mutation SNP G T uc001uvr.3 CCNA1_uc010teo.... Hybrid_Cap... view
CCR6 6 167417312 167417313 EHEB_HAEMATOPOI... 37 5'UTR Ins - T uc003qvl.2 FGFR1OP_uc011eg... Hybrid_Cap...
CDH1 16 68867611 68867612 EHEB_HAEMATOPOI... 37 3'UTR Ins - T rs35942505 uc002ewg.1 CDH1_uc010vlj.1... Hybrid_Cap...
CDK11B 1 1654066 1654068 EHEB_HAEMATOPOI... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 EHEB_HAEMATOPOI... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 22 19196673 19196674 EHEB_HAEMATOPOI... 37 Intron Ins - A uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CXCL12 10 44873992 44873993 EHEB_HAEMATOPOI... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DACH1 13 72014625 72014626 EHEB_HAEMATOPOI... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DST 6 56482783 56482784 EHEB_HAEMATOPOI... 37 Intron Ins - CT uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap...
ECM1 1 150482567 150482567 EHEB_HAEMATOPOI... 37 Intron SNP C G uc001euu.2 ECM1_uc010pce.1... Hybrid_Cap... view
EIF2AK4 15 40266072 40266072 EHEB_HAEMATOPOI... 37 Intron SNP A G uc001zkm.1 EIF2AK4_uc001zk... Hybrid_Cap... view
EP300 22 41574970 41574972 EHEB_HAEMATOPOI... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA5 4 66189753 66189754 EHEB_HAEMATOPOI... 37 3'UTR Ins - T rs67487372 uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap...
EPHA6 3 97367230 97367231 EHEB_HAEMATOPOI... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHB6 7 142568771 142568771 EHEB_HAEMATOPOI... 37 3'UTR Del C - uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap...
EXT1 8 118811807 118811807 EHEB_HAEMATOPOI... 37 3'UTR Del T - uc003yok.1 Hybrid_Cap...
FER p.I202V 5 108203590 108203590 EHEB_HAEMATOPOI... 37 Missense_Mutation SNP A G uc003kop.1 FER_uc011cve.1_... Hybrid_Cap... view
FGFR3 4 1809128 1809129 EHEB_HAEMATOPOI... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 EHEB_HAEMATOPOI... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 EHEB_HAEMATOPOI... 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FN1 2 216244182 216244185 EHEB_HAEMATOPOI... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GPR87 3 151011916 151011916 EHEB_HAEMATOPOI... 37 3'UTR SNP T G uc003eyt.2 MED12L_uc011bnz... Hybrid_Cap... view
GRIA3 X 122318386 122318387 EHEB_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 EHEB_HAEMATOPOI... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HNF1A 12 121434630 121434631 EHEB_HAEMATOPOI... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 EHEB_HAEMATOPOI... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
KALRN p.Q388K 3 124044902 124044902 EHEB_HAEMATOPOI... 37 Missense_Mutation SNP C A uc003ehg.2 KALRN_uc010hrv.... Hybrid_Cap... view
KLK3 p.A222S 19 51362819 51362819 EHEB_HAEMATOPOI... 37 Missense_Mutation SNP G T uc002pts.1 KLK3_uc010ycj.1... Hybrid_Cap... view
KLK7 19 51480672 51480675 EHEB_HAEMATOPOI... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LRP2 p.R2324K 2 170063259 170063259 EHEB_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002ues.2 Hybrid_Cap... view
LZTR1 p.R810W 22 21351542 21351542 EHEB_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002zto.2 LZTR1_uc002ztn.... Hybrid_Cap... view
MAF 16 79628537 79628537 EHEB_HAEMATOPOI... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 EHEB_HAEMATOPOI... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 EHEB_HAEMATOPOI... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 EHEB_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 EHEB_HAEMATOPOI... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MARS 12 57910431 57910431 EHEB_HAEMATOPOI... 37 3'UTR SNP A G uc001sog.2 MARS_uc001sof.1... Hybrid_Cap... view
NCAM1 11 112832307 112832308 EHEB_HAEMATOPOI... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 EHEB_HAEMATOPOI... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 EHEB_HAEMATOPOI... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 EHEB_HAEMATOPOI... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NFKB1 p.D917_splice 4 103534740 103534741 EHEB_HAEMATOPOI... 37 Splice_Site_Ins Ins - A rs35795162 uc011cep.1 NFKB1_uc011ceq.... Hybrid_Cap...
NPM1 5 170837734 170837734 EHEB_HAEMATOPOI... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 EHEB_HAEMATOPOI... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 EHEB_HAEMATOPOI... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAX3 2 223158653 223158653 EHEB_HAEMATOPOI... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDK4 7 95221928 95221928 EHEB_HAEMATOPOI... 37 Intron Del A - uc003uoa.2 PDK4_uc003unz.2... Hybrid_Cap...
PGR 11 100933598 100933599 EHEB_HAEMATOPOI... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 EHEB_HAEMATOPOI... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 EHEB_HAEMATOPOI... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKG1 10 52751071 52751079 EHEB_HAEMATOPOI... 37 5'UTR Del GCCGC... - uc001jjm.2 PRKG1_uc010qhp.... Hybrid_Cap...
RAD50 p.M1I 5 131893019 131893019 EHEB_HAEMATOPOI... 37 Missense_Mutation SNP G A uc003kxi.2 RAD50_uc003kxg.... Hybrid_Cap... view
RASGRF1 15 79277150 79277151 EHEB_HAEMATOPOI... 37 Intron Ins - C rs67045840;rs77640668 uc002beq.2 RASGRF1_uc002be... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 EHEB_HAEMATOPOI... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
ROBO2 p.R1351Q 3 77684117 77684117 EHEB_HAEMATOPOI... 37 Missense_Mutation SNP G A uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap... view
SGK2 p.G34S 20 42195055 42195055 EHEB_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002xkv.2 SGK2_uc002xkt.2... Hybrid_Cap... view
STK25 2 242435659 242435662 EHEB_HAEMATOPOI... 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 EHEB_HAEMATOPOI... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TCERG1L 10 132891304 132891304 EHEB_HAEMATOPOI... 37 3'UTR SNP C T rs45583631 uc001lkp.2 Hybrid_Cap... view
TEC 4 48139307 48139310 EHEB_HAEMATOPOI... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TGS1 p.R8L 8 56686200 56686200 EHEB_HAEMATOPOI... 37 Missense_Mutation SNP G T uc003xsj.3 TMEM68_uc003xsh... Hybrid_Cap... view
TLK1 2 171850178 171850179 EHEB_HAEMATOPOI... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 EHEB_HAEMATOPOI... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TRIO p.N2724S 5 14498321 14498321 EHEB_HAEMATOPOI... 37 Missense_Mutation SNP A G uc003jff.2 TRIO_uc003jfg.2... Hybrid_Cap... view
TRPS1 8 116635872 116635873 EHEB_HAEMATOPOI... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 EHEB_HAEMATOPOI... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VPS13B p.N152K 8 100115224 100115224 EHEB_HAEMATOPOI... 37 Missense_Mutation SNP C A uc003yiv.2 VPS13B_uc003yiw... Hybrid_Cap... view
XPO4 p.T154I 13 21418021 21418021 EHEB_HAEMATOPOI... 37 Missense_Mutation SNP G A uc001unq.3 XPO4_uc010tcr.1... Hybrid_Cap... view