Annotation Summary for Cell Line: EB2  

Cell line primary name: EB2
Cell line aliases:
Gender: F
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: Burkitt_lymphoma
Notes: Identical lines: EB1 and EB2 share high SNP identity
Source: ATCC
Expression arrays: CASED_p_NCLE_RNA4_HG-U133_Plus_2_G01_383626
SNP arrays: FIEFS_p_NCLE_DNA_Affy5_GenomeWideSNP_6_C06_411046
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in EB2

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ABL2 1 179086420 179086420 EB2_HAEMATOPOIE... 37 Intron Del A - uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap...
ACACA 17 35766452 35766452 EB2_HAEMATOPOIE... 37 5'UTR SNP A G uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap... view
ADAM17 2 9630245 9630245 EB2_HAEMATOPOIE... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 EB2_HAEMATOPOIE... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADCK2 7 140373045 140373045 EB2_HAEMATOPOIE... 37 5'UTR SNP G A uc003vvy.1 ADCK2_uc003vvz.... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 EB2_HAEMATOPOIE... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK1 4 113347609 113347610 EB2_HAEMATOPOIE... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 EB2_HAEMATOPOIE... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
AR p.Q592H X 66905859 66905859 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP G T uc004dwu.1 AR_uc011mpd.1_M... Hybrid_Cap... view
ARHGAP29 p.D988Y 1 94640249 94640249 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP C A uc001dqj.3 ARHGAP29_uc009w... Hybrid_Cap... view
ARHGEF12 11 120355846 120355846 EB2_HAEMATOPOIE... 37 3'UTR SNP C G uc001pxl.1 ARHGEF12_uc009z... Hybrid_Cap... view
ARHGEF7 13 111955584 111955584 EB2_HAEMATOPOIE... 37 3'UTR SNP T C uc010tjo.1 ARHGEF7_uc001vr... Hybrid_Cap... view
ARID1A p.Q501* 1 27057793 27057793 EB2_HAEMATOPOIE... 37 Nonsense_Mutation SNP C T uc001bmv.1 ARID1A_uc001bmt... Hybrid_Cap... view
ASPH 8 62415824 62415825 EB2_HAEMATOPOIE... 37 3'UTR Ins - TCTT uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
BAK1 6 33541408 33541408 EB2_HAEMATOPOIE... 37 3'UTR SNP C G rs5745596 uc003oes.2 BAK1_uc003oer.2... Hybrid_Cap... view
BCL3 19 45262965 45262967 EB2_HAEMATOPOIE... 37 3'UTR Del CCC - uc010xxe.1 Hybrid_Cap...
BCL6 p.L95P 3 187449596 187449596 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP A G uc003frp.3 BCL6_uc011bsf.1... Hybrid_Cap... view
BMP4 14 54416601 54416602 EB2_HAEMATOPOIE... 37 3'UTR Ins - ATT rs74495140;rs76335800 uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap...
BRDT 1 92479860 92479864 EB2_HAEMATOPOIE... 37 3'UTR Del TAAAA - uc010osz.1 BRDT_uc001dok.3... Hybrid_Cap...
C11ORF65 11 108225641 108225641 EB2_HAEMATOPOIE... 37 Splice_Site_SNP SNP C T uc009yxu.1 ATM_uc001pkb.1_... Hybrid_Cap... view
CABC1 1 227171585 227171585 EB2_HAEMATOPOIE... 37 Intron Del T - uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CACNB2 10 18828721 18828722 EB2_HAEMATOPOIE... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CARD10 p.KE272del 22 37906309 37906314 EB2_HAEMATOPOIE... 37 In_Frame_Del Del CTCCT... - uc003asx.1 CARD10_uc003ast... Hybrid_Cap...
CASC5 p.D897E 15 40915075 40915075 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP T G uc010bbs.1 CASC5_uc010ucq.... Hybrid_Cap... view
CASP3 4 185550283 185550283 EB2_HAEMATOPOIE... 37 3'UTR SNP G A uc003iwh.2 CASP3_uc003iwg.... Hybrid_Cap... view
CASP8 p.S397P 2 202149748 202149748 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP T C uc002uxt.1 CASP8_uc002uxp.... Hybrid_Cap... view
CCR6 6 167417112 167417112 EB2_HAEMATOPOIE... 37 5'UTR Del C - uc003qvl.2 FGFR1OP_uc011eg... Hybrid_Cap...
CD40 20 44746914 44746914 EB2_HAEMATOPOIE... 37 5'UTR Del T - uc002xrg.1 CD40_uc002xrf.1... Hybrid_Cap...
CDC7 p.I60V 1 91973473 91973473 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP A G uc001doe.2 CDC7_uc001dof.2... Hybrid_Cap... view
CDKL4 2 39406128 39406129 EB2_HAEMATOPOIE... 37 Intron Ins - T uc010fal.1 CDKL4_uc002rrm.... Hybrid_Cap...
CDKN2B p.L115L 9 22006060 22006060 EB2_HAEMATOPOIE... 37 Silent SNP G A uc003zpo.2 MTAP_uc003zpi.1... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 EB2_HAEMATOPOIE... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHRNA5 15 78885727 78885731 EB2_HAEMATOPOIE... 37 3'UTR Del TTATG - rs113264952 uc002bdy.2 CHRNA3_uc002bea... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 EB2_HAEMATOPOIE... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN1 p.E869Q 12 41419033 41419033 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP G C uc001rmm.1 CNTN1_uc001rmn.... Hybrid_Cap... view
CNTN6 3 1339681 1339686 EB2_HAEMATOPOIE... 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
COL14A1 p.T374I 8 121219263 121219263 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc003yox.2 COL14A1_uc003yo... Hybrid_Cap... view
COL18A1 p.H1552H 21 46929440 46929440 EB2_HAEMATOPOIE... 37 Silent SNP C T uc011afs.1 COL18A1_uc002zh... Hybrid_Cap... view
CSNK1A1L 13 37679490 37679490 EB2_HAEMATOPOIE... 37 5'UTR SNP G A uc001uwm.1 Hybrid_Cap... view
CTBP1 4 1205984 1205984 EB2_HAEMATOPOIE... 37 3'UTR SNP C T uc003gcv.1 CTBP1_uc003gct.... Hybrid_Cap... view
CTBP2 p.K974fs 10 126678123 126678123 EB2_HAEMATOPOIE... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CXCL12 10 44873992 44873993 EB2_HAEMATOPOIE... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
CYP1A2 p.F432S 15 75047173 75047173 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP T C uc002ayr.1 Hybrid_Cap... view
DCLK3 3 36780304 36780304 EB2_HAEMATOPOIE... 37 5'UTR SNP T A uc003cgi.2 Hybrid_Cap... view
DDR2 1 162750211 162750211 EB2_HAEMATOPOIE... 37 3'UTR Del T - uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap...
DDX10 p.N579S 11 108593960 108593960 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP A G uc001pkm.2 DDX10_uc001pkl.... Hybrid_Cap... view
DNAH8 p.V2919A 6 38875790 38875790 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP T C uc003ooe.1 Hybrid_Cap... view
EDN1 6 12296150 12296151 EB2_HAEMATOPOIE... 37 Intron Ins - T rs66570617 uc003nae.3 EDN1_uc003nad.2... Hybrid_Cap...
EPHA6 3 97367230 97367231 EB2_HAEMATOPOIE... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHA8 p.G93S 1 22902827 22902827 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc001bfx.1 EPHA8_uc001bfw.... Hybrid_Cap... view
EPHB6 7 142568771 142568771 EB2_HAEMATOPOIE... 37 3'UTR Del C - uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap...
ERCC6 p.L1488F 10 50666881 50666881 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc001jhs.3 ERCC6_uc009xod.... Hybrid_Cap... view
ETV1 7 14028708 14028708 EB2_HAEMATOPOIE... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FAS p.K316K 10 90774147 90774147 EB2_HAEMATOPOIE... 37 Silent SNP G A rs114502430 uc001kfr.2 FAS_uc010qna.1_... Hybrid_Cap... view
FBN2 p.R2833C 5 127595389 127595389 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc003kuu.2 Hybrid_Cap... view
FGF20 8 16850426 16850426 EB2_HAEMATOPOIE... 37 3'UTR SNP G C uc003wxc.1 FGF20_uc010lsv.... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 EB2_HAEMATOPOIE... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 p.P552H 4 1807480 1807480 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP C A uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap... view
FGFR4 5 176524738 176524738 EB2_HAEMATOPOIE... 37 3'UTR SNP C T uc003mfl.2 FGFR4_uc003mfm.... Hybrid_Cap... view
FLI1 11 128638217 128638217 EB2_HAEMATOPOIE... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT1 p.M509V 13 28979943 28979943 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP T C uc001usb.3 FLT1_uc010aar.1... Hybrid_Cap... view
FLT4 p.A125T 5 180057582 180057582 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap... view
FMN2 p.917_918insPP 1 240370839 240370840 EB2_HAEMATOPOIE... 37 In_Frame_Ins Ins - CCCCCT uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FOXP1 3 71008341 71008342 EB2_HAEMATOPOIE... 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
GHR p.K356T 5 42718676 42718676 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP A C uc003jmt.2 GHR_uc011cpq.1_... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 EB2_HAEMATOPOIE... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRB2 17 73389716 73389716 EB2_HAEMATOPOIE... 37 5'UTR SNP C T uc002jnx.3 GRB2_uc002jny.3... Hybrid_Cap... view
GRIA3 X 122318386 122318387 EB2_HAEMATOPOIE... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GSG2 p.K357Q 17 3628298 3628298 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP A C uc002fwp.2 ITGAE_uc002fwo.... Hybrid_Cap... view
GTSE1 22 46722670 46722673 EB2_HAEMATOPOIE... 37 Intron Del GTTT - uc011aqy.1 GTSE1_uc011aqz.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 EB2_HAEMATOPOIE... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HDAC2 p.P5S 6 114292342 114292342 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc003pwd.1 HDAC2_uc003pwc.... Hybrid_Cap... view
HNRNPH1 5 179050358 179050358 EB2_HAEMATOPOIE... 37 Intron SNP A T uc003mkf.3 HNRNPH1_uc003mk... Hybrid_Cap... view
IKBKB 8 42151039 42151039 EB2_HAEMATOPOIE... 37 Intron SNP C T uc003xow.1 IKBKB_uc003xov.... Hybrid_Cap... view
IKZF1 7 50468454 50468455 EB2_HAEMATOPOIE... 37 3'UTR Ins - T uc003tow.3 IKZF1_uc003tox.... Hybrid_Cap...
ITPR1 3 4687470 4687471 EB2_HAEMATOPOIE... 37 Intron Ins - CT rs33946275 uc003bqa.2 ITPR1_uc010hbz.... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 EB2_HAEMATOPOIE... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KALRN 3 124237555 124237555 EB2_HAEMATOPOIE... 37 Intron SNP G A uc003ehg.2 KALRN_uc010hrv.... Hybrid_Cap... view
KLK7 19 51480672 51480675 EB2_HAEMATOPOIE... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KTN1 p.G894W 14 56119644 56119644 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP G T uc001xcb.2 KTN1_uc001xce.2... Hybrid_Cap... view
LRP1B p.L540F 2 141806724 141806724 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP C G uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
MAP3K14 p.R218_splice 17 43364293 43364294 EB2_HAEMATOPOIE... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK10 4 86938296 86938297 EB2_HAEMATOPOIE... 37 3'UTR Ins - TG rs72228542 uc003hpq.2 MAPK10_uc010ikg... Hybrid_Cap...
MAPK14 6 36076367 36076367 EB2_HAEMATOPOIE... 37 3'UTR SNP G C uc003olp.2 MAPK14_uc003olq... Hybrid_Cap... view
MCL1 p.S73P 1 150551790 150551790 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP A G uc001euz.2 MCL1_uc010pch.1... Hybrid_Cap... view
MCM3APAS 21 47671275 47671276 EB2_HAEMATOPOIE... 37 3'UTR Ins - AAT rs67797185 uc002zin.2 MCM3APAS_uc002z... Hybrid_Cap...
MLL p.V1433G 11 118355656 118355656 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP T G uc001ptb.2 MLL_uc001pta.2_... Hybrid_Cap... view
MLL3 p.N1116Y 7 151919745 151919745 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP T A uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap... view
MSH5 6 31725859 31725859 EB2_HAEMATOPOIE... 37 Intron SNP C T uc003nwt.1 MSH5_uc003nwu.1... Hybrid_Cap... view
MYC p.T73A 8 128750680 128750680 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP A G uc003ysi.2 MYC_uc003ysh.1_... Hybrid_Cap... view
MYLK p.E1066del 3 123419117 123419119 EB2_HAEMATOPOIE... 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
MYLK3 16 46761095 46761095 EB2_HAEMATOPOIE... 37 Intron SNP G A uc002eei.3 MYLK3_uc010vge.... Hybrid_Cap... view
MYO3A 10 26501091 26501091 EB2_HAEMATOPOIE... 37 3'UTR SNP G A uc001isn.2 MYO3A_uc009xkp.... Hybrid_Cap... view
MYST4 p.E1104del 10 76781906 76781908 EB2_HAEMATOPOIE... 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
NCAM1 11 112832307 112832308 EB2_HAEMATOPOIE... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 EB2_HAEMATOPOIE... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 113092121 113092121 EB2_HAEMATOPOIE... 37 Intron SNP T C uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap... view
NCOA3 p.Q1276del 20 46279864 46279866 EB2_HAEMATOPOIE... 37 In_Frame_Del Del CAA - rs1132443;rs28529067 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 EB2_HAEMATOPOIE... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NEK3 p.I31T 13 52730298 52730298 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP A G uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap... view
NFKB1 p.D917_splice 4 103534740 103534741 EB2_HAEMATOPOIE... 37 Splice_Site_Ins Ins - A rs35795162 uc011cep.1 NFKB1_uc011ceq.... Hybrid_Cap...
NGF p.S2P 1 115829413 115829413 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP A G uc001efu.1 Hybrid_Cap... view
NLK p.I215M 17 26488186 26488186 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP A G uc010crj.2 NLK_uc010cri.1_... Hybrid_Cap... view
NLRP3 1 247589068 247589068 EB2_HAEMATOPOIE... 37 Intron SNP G A uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap... view
NOTCH4 p.P1833T 6 32163729 32163729 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP G T uc003obb.2 GPSM3_uc003oaz.... Hybrid_Cap... view
NOTCH4 p.N1265N 6 32169238 32169238 EB2_HAEMATOPOIE... 37 Silent SNP G A uc003obb.2 NOTCH4_uc003oba... Hybrid_Cap... view
NPR1 1 153665919 153665920 EB2_HAEMATOPOIE... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 EB2_HAEMATOPOIE... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR3C1 5 142661420 142661421 EB2_HAEMATOPOIE... 37 3'UTR Ins - CTT uc003lmy.2 NR3C1_uc003lmz.... Hybrid_Cap...
PABPN1 p.G32S 14 23777070 23777070 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc001wjh.3 BCL2L2_uc001wjg... Hybrid_Cap... view
PARP1 1 226549137 226549138 EB2_HAEMATOPOIE... 37 3'UTR Del GT - uc001hqd.3 Hybrid_Cap...
PAX3 2 223066017 223066018 EB2_HAEMATOPOIE... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158575 223158575 EB2_HAEMATOPOIE... 37 Intron SNP G T uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap... view
PAX3 2 223158829 223158829 EB2_HAEMATOPOIE... 37 Intron SNP T C uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap... view
PIK3R1 5 67584340 67584341 EB2_HAEMATOPOIE... 37 Intron Ins - CGAGC rs72310992 uc003jva.2 PIK3R1_uc003jvb... Hybrid_Cap...
PIK3R1 p.K567E 5 67591106 67591106 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP A G uc003jva.2 PIK3R1_uc003jvb... Hybrid_Cap... view
PLK2 5 57755013 57755014 EB2_HAEMATOPOIE... 37 Intron Ins - A rs79105101 uc003jrn.2 PLK2_uc011cql.1... Hybrid_Cap...
PPARA p.I228V 22 46615882 46615882 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP A G uc003bgw.1 PPARA_uc003bgx.... Hybrid_Cap... view
PPM1E 17 56833248 56833248 EB2_HAEMATOPOIE... 37 5'UTR SNP C T uc002iwx.2 PPM1E_uc010ddd.... Hybrid_Cap... view
PPM1E p.43_44insEP 17 56833457 56833458 EB2_HAEMATOPOIE... 37 In_Frame_Ins Ins - GAACCC rs74256772 uc002iwx.2 PPM1E_uc010ddd.... Hybrid_Cap...
PRKCA 17 64298959 64298960 EB2_HAEMATOPOIE... 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKCI 3 170021051 170021051 EB2_HAEMATOPOIE... 37 3'UTR SNP A G uc003fgs.2 PRKCI_uc003fgt.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 EB2_HAEMATOPOIE... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PSMA4 15 78834083 78834083 EB2_HAEMATOPOIE... 37 Intron SNP T C uc002bdu.3 PSMA4_uc010blf.... Hybrid_Cap... view
RAPGEF2 4 160189200 160189201 EB2_HAEMATOPOIE... 37 5'UTR Ins - T rs72011511 uc003iqg.3 Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 EB2_HAEMATOPOIE... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
REM1 20 30064241 30064241 EB2_HAEMATOPOIE... 37 5'UTR Del T - rs113010491 uc002wwa.2 Hybrid_Cap...
RGL4 22 24041203 24041203 EB2_HAEMATOPOIE... 37 3'UTR SNP C T uc002zxn.2 LOC91316_uc002z... Hybrid_Cap... view
RPS6KB1 17 58024224 58024225 EB2_HAEMATOPOIE... 37 3'UTR Ins - AA rs67846207 uc002ixy.2 RPS6KB1_uc010dd... Hybrid_Cap...
SEPT5 22 19709595 19709595 EB2_HAEMATOPOIE... 37 Intron Del C - uc002zpv.1 SEPT5_uc002zpw.... Hybrid_Cap...
SEPT9 p.E243E 17 75478233 75478233 EB2_HAEMATOPOIE... 37 Silent SNP G A uc002jts.3 SEPT9_uc010wtk.... Hybrid_Cap... view
SOS1 2 39278480 39278483 EB2_HAEMATOPOIE... 37 Intron Del AAAC - uc002rrk.3 SOS1_uc010ynr.1... Hybrid_Cap...
SPEG p.G2299C 2 220349080 220349080 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP G T uc010fwg.2 Hybrid_Cap... view
STK31 7 23872024 23872025 EB2_HAEMATOPOIE... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
SULF2 20 46386166 46386166 EB2_HAEMATOPOIE... 37 5'UTR SNP G A uc002xto.2 SULF2_uc002xtr.... Hybrid_Cap... view
TFPT 19 54613217 54613217 EB2_HAEMATOPOIE... 37 Intron SNP T C rs10418511 uc010yej.1 TFPT_uc010erd.2... Hybrid_Cap... view
TFRC 3 195778593 195778593 EB2_HAEMATOPOIE... 37 3'UTR SNP C T uc003fvz.3 TFRC_uc003fwa.3... Hybrid_Cap... view
TNRC6B p.T480M 22 40661673 40661673 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap... view
TP53 p.G244D 17 7577550 7577550 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP C T rs28934572 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP53BP1 15 43699450 43699450 EB2_HAEMATOPOIE... 37 3'UTR SNP A G uc001zrr.3 TP53BP1_uc010ud... Hybrid_Cap... view
TP53BP1 p.G42C 15 43784550 43784550 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP C A uc001zrr.3 TP53BP1_uc010ud... Hybrid_Cap... view
TP53BP1 p.E33A 15 43784576 43784576 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP T G uc001zrr.3 TP53BP1_uc010ud... Hybrid_Cap... view
TSSK2 p.C243F 22 19119640 19119640 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP G T uc002zow.2 DGCR14_uc002zot... Hybrid_Cap... view
TSSK6 19 19625333 19625333 EB2_HAEMATOPOIE... 37 3'UTR SNP T G uc002nmr.2 TSSK6_uc002nmq.... Hybrid_Cap... view
TTN 2 179391639 179391640 EB2_HAEMATOPOIE... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
UBE3B 12 109947357 109947358 EB2_HAEMATOPOIE... 37 Intron Ins - T uc001top.2 UBE3B_uc001toq.... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 EB2_HAEMATOPOIE... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VPS13B p.A1684T 8 100587911 100587911 EB2_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc003yiv.2 VPS13B_uc003yiw... Hybrid_Cap... view
WLS 1 68592016 68592016 EB2_HAEMATOPOIE... 37 Intron SNP C T uc001dee.2 WLS_uc001def.1_... Hybrid_Cap... view
ZNF423 16 49856619 49856619 EB2_HAEMATOPOIE... 37 5'UTR SNP G A uc002efs.2 Hybrid_Cap... view