Annotation Summary for Cell Line: HT  

Cell line primary name: HT
Cell line aliases:
Gender: M
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: B_cell_lymphoma_unspecified
Notes:
Source: ATCC
Expression arrays: CASED_p_NCLE_RNA4_HG-U133_Plus_2_G12_383614
SNP arrays: FIEFS_p_NCLE_DNA_Affy5_GenomeWideSNP_6_G09_410942
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in HT

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ABI1 10 27037487 27037488 HT_HAEMATOPOIET... 37 3'UTR Ins - A rs113435131;rs75446996 uc001isx.2 ABI1_uc001ite.2... Hybrid_Cap...
ABI1 p.K205fs 10 27057885 27057885 HT_HAEMATOPOIET... 37 Frame_Shift_Del Del T - uc001isx.2 ABI1_uc001ite.2... Hybrid_Cap...
ACVR1C 2 158390344 158390344 HT_HAEMATOPOIET... 37 3'UTR Del A - uc002tzk.3 ACVR1C_uc002tzl... Hybrid_Cap...
ADAM28 8 24211994 24211997 HT_HAEMATOPOIET... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTSL3 p.Y464C 15 84561564 84561564 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc002bjz.3 ADAMTSL3_uc010b... Hybrid_Cap... view
ADHFE1 p.A33_splice 8 67352436 67352436 HT_HAEMATOPOIET... 37 Splice_Site_SNP SNP T C uc003xwb.3 ADHFE1_uc003xwd... Hybrid_Cap... view
AKAP12 p.L482V 6 151670970 151670970 HT_HAEMATOPOIET... 37 Missense_Mutation SNP C G uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 HT_HAEMATOPOIET... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP12 p.A1568T 6 151674228 151674228 HT_HAEMATOPOIET... 37 Missense_Mutation SNP G A uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap... view
AKAP9 p.1335_1336insQ 7 91652178 91652179 HT_HAEMATOPOIET... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
AKT1 14 105236639 105236639 HT_HAEMATOPOIET... 37 3'UTR SNP A G uc001ypk.2 INF2_uc010tyi.1... Hybrid_Cap... view
ALPK2 p.1388_1389FF>F 18 56203253 56203255 HT_HAEMATOPOIET... 37 In_Frame_Del Del AAG - uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ALPK2 p.I2011T 18 56171378 56171378 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc002lhj.3 Hybrid_Cap... view
ANAPC5 p.M557V 12 121756380 121756380 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc001uag.2 ANAPC5_uc010szu... Hybrid_Cap... view
APC p.G2211C 5 112177922 112177922 HT_HAEMATOPOIET... 37 Missense_Mutation SNP G T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
ARHGAP26 p.I561M 5 142500697 142500697 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc011dbj.1 ARHGAP26_uc003l... Hybrid_Cap... view
ARHGEF12 p.V108A 11 120292536 120292536 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc001pxl.1 ARHGEF12_uc009z... Hybrid_Cap... view
ATF2 p.S442S 2 175939529 175939529 HT_HAEMATOPOIET... 37 Silent SNP T G uc002ujl.2 ATF2_uc010fqv.2... Hybrid_Cap... view
ATP11A p.T175A 13 113470478 113470478 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc001vsj.3 ATP11A_uc001vsi... Hybrid_Cap... view
ATP11A p.S363P 13 113481071 113481071 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc001vsj.3 ATP11A_uc001vsi... Hybrid_Cap... view
ATP13A5 p.F414fs 3 193051570 193051570 HT_HAEMATOPOIET... 37 Frame_Shift_Del Del A - uc011bsq.1 Hybrid_Cap...
ATR 3 142168162 142168162 HT_HAEMATOPOIET... 37 3'UTR SNP T C uc003eux.3 XRN1_uc003eus.2... Hybrid_Cap... view
BAI1 p.S383P 8 143558564 143558564 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc003ywm.2 Hybrid_Cap... view
BAI3 p.N1462T 6 70098599 70098599 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A C uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BCL2L11 p.R166_splice 2 111907726 111907726 HT_HAEMATOPOIET... 37 Splice_Site_SNP SNP T C uc002tgv.1 BCL2L11_uc002tg... Hybrid_Cap... view
BCL3 19 45262965 45262965 HT_HAEMATOPOIET... 37 3'UTR Del C - uc010xxe.1 Hybrid_Cap...
BIRC3 p.Q311R 11 102196275 102196275 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc001pgx.2 Hybrid_Cap... view
BIRC3 p.T498A 11 102206864 102206864 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc001pgx.2 Hybrid_Cap... view
BIRC6 p.S1413_splice 2 32667525 32667525 HT_HAEMATOPOIET... 37 Splice_Site_SNP SNP T C uc010ezu.2 Hybrid_Cap... view
BIRC6 p.N1748H 2 32689877 32689877 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A C uc010ezu.2 Hybrid_Cap... view
BMI1 10 22618626 22618626 HT_HAEMATOPOIET... 37 3'UTR SNP T C uc009xkg.2 BMI1_uc001irh.2... Hybrid_Cap... view
BRCA1 p.Q687P 17 41245488 41245488 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T G rs28897680 uc002ict.2 BRCA1_uc010whp.... Hybrid_Cap... view
BRD2 p.N783S 6 32948215 32948215 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc010juh.2 BRD2_uc003ocn.3... Hybrid_Cap... view
BRIP1 17 59760492 59760492 HT_HAEMATOPOIET... 37 3'UTR Del A - uc002izk.1 Hybrid_Cap...
CABC1 1 227171736 227171737 HT_HAEMATOPOIET... 37 Intron Ins - T rs1574184 uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CAMK2A 5 149602223 149602224 HT_HAEMATOPOIET... 37 3'UTR Del AC - uc003lrt.2 CAMK2A_uc003lrs... Hybrid_Cap...
CARD10 p.L225P 22 37912005 37912005 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc003asx.1 CARD10_uc003ast... Hybrid_Cap... view
CASP4 11 104822590 104822590 HT_HAEMATOPOIET... 37 Intron Del T - uc001pid.1 CASP4_uc001pib.... Hybrid_Cap...
CCNB1 5 68463025 68463025 HT_HAEMATOPOIET... 37 5'UTR SNP T G uc003jvm.2 CCNB1_uc011crd.... Hybrid_Cap... view
CCR6 6 167416821 167416821 HT_HAEMATOPOIET... 37 5'UTR Del T - uc003qvl.2 FGFR1OP_uc011eg... Hybrid_Cap...
CDC42BPB p.L729P 14 103434863 103434863 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc001ymi.1 Hybrid_Cap... view
CDC42BPG p.E606G 11 64603035 64603035 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc001obs.3 Hybrid_Cap... view
CDC5L p.R181H 6 44371548 44371548 HT_HAEMATOPOIET... 37 Missense_Mutation SNP G A uc003oxl.2 Hybrid_Cap... view
CDH1 16 68867468 68867468 HT_HAEMATOPOIET... 37 3'UTR Del T - uc002ewg.1 CDH1_uc010vlj.1... Hybrid_Cap...
CDK11B 1 1654066 1654068 HT_HAEMATOPOIET... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK17 p.D110N 12 96707188 96707188 HT_HAEMATOPOIET... 37 Missense_Mutation SNP C T uc001tep.1 CDK17_uc009ztk.... Hybrid_Cap... view
CDK20 p.G43D 9 90588898 90588898 HT_HAEMATOPOIET... 37 Missense_Mutation SNP C T uc004apr.2 CDK20_uc004aps.... Hybrid_Cap... view
CEP110 p.K507R 9 123880688 123880688 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc004bkx.1 CEP110_uc004bky... Hybrid_Cap... view
CEP110 9 123939699 123939699 HT_HAEMATOPOIET... 37 3'UTR Del T - rs75910820 uc004bkx.1 CEP110_uc004blb... Hybrid_Cap...
CHD1 p.P1684del 5 98192165 98192167 HT_HAEMATOPOIET... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHD8 14 21853630 21853631 HT_HAEMATOPOIET... 37 3'UTR Del TT - rs78520772;rs78304393 uc001was.1 CHD8_uc001war.1... Hybrid_Cap...
CHD8 p.M2154V 14 21854221 21854221 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc001was.1 CHD8_uc001war.1... Hybrid_Cap... view
CHEK2 22 29083809 29083809 HT_HAEMATOPOIET... 37 3'UTR Del A - uc003adt.1 CHEK2_uc003ads.... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 HT_HAEMATOPOIET... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 p.A1095T 22 19196591 19196591 HT_HAEMATOPOIET... 37 Missense_Mutation SNP C T uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap... view
CLTCL1 p.S1080P 22 19197847 19197847 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap... view
CPAMD8 p.D1588N 19 17013523 17013523 HT_HAEMATOPOIET... 37 Missense_Mutation SNP C T uc002nfb.2 CPAMD8_uc002nfd... Hybrid_Cap... view
CPNE5 p.I264T 6 36730758 36730758 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc003omr.1 CPNE5_uc003oms.... Hybrid_Cap... view
CRTC1 p.S585fs 19 18887993 18887993 HT_HAEMATOPOIET... 37 Frame_Shift_Del Del C - uc010ebv.2 CRTC1_uc002nkb.... Hybrid_Cap...
CSMD3 p.S2527P 8 113326252 113326252 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 p.V924G 8 113678551 113678551 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A C uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSNK1D p.L252P 17 80209385 80209385 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc002kef.2 SLC16A3_uc002ke... Hybrid_Cap... view
CSNK1G3 5 122950255 122950255 HT_HAEMATOPOIET... 37 3'UTR Del T - uc003ktl.2 CSNK1G3_uc003kt... Hybrid_Cap...
CTTN p.A469V 11 70281132 70281132 HT_HAEMATOPOIET... 37 Missense_Mutation SNP C T uc001opu.2 CTTN_uc001opv.3... Hybrid_Cap... view
CUBN p.S879R 10 17110760 17110760 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T G uc001ioo.2 Hybrid_Cap... view
CYP1A2 p.T146A 15 75042515 75042515 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc002ayr.1 Hybrid_Cap... view
CYP24A1 p.D139G 20 52789481 52789481 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc002xwv.2 CYP24A1_uc002xw... Hybrid_Cap... view
DACH1 p.L603fs 13 72053363 72053363 HT_HAEMATOPOIET... 37 Frame_Shift_Del Del A - uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DCLK2 p.V540G 4 151160895 151160895 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T G uc003ilo.3 DCLK2_uc003ilm.... Hybrid_Cap... view
DDR2 p.L338H 1 162731158 162731158 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T A uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap... view
DYRK4 12 4723002 4723002 HT_HAEMATOPOIET... 37 3'UTR Del T - uc001qmx.2 DYRK4_uc001qmy.... Hybrid_Cap...
EIF2AK1 p.V305A 7 6080728 6080728 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc003spp.2 EIF2AK1_uc003sp... Hybrid_Cap... view
EIF2AK3 p.A422V 2 88888320 88888320 HT_HAEMATOPOIET... 37 Missense_Mutation SNP G A uc002stc.3 Hybrid_Cap... view
EIF2B5 3 183854590 183854590 HT_HAEMATOPOIET... 37 Intron Del A - uc003fmp.2 EIF2B5_uc010hxs... Hybrid_Cap...
EIF4A1 p.V209A 17 7480663 7480663 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc002gho.1 EIF4A1_uc002ghr... Hybrid_Cap... view
EP300 p.K1546fs 22 41569645 41569645 HT_HAEMATOPOIET... 37 Frame_Shift_Del Del A - uc003azl.3 Hybrid_Cap...
EPHA5 p.R897H 4 66201815 66201815 HT_HAEMATOPOIET... 37 Missense_Mutation SNP C T uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 HT_HAEMATOPOIET... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHB1 p.V718M 3 134920337 134920337 HT_HAEMATOPOIET... 37 Missense_Mutation SNP G A uc003eqt.2 EPHB1_uc003equ.... Hybrid_Cap... view
EPHB2 p.L471M 1 23208959 23208959 HT_HAEMATOPOIET... 37 Missense_Mutation SNP C A uc009vqj.1 EPHB2_uc001bge.... Hybrid_Cap... view
EPHB3 p.L965P 3 184299307 184299307 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc003foz.2 Hybrid_Cap... view
ERBB3 12 56492422 56492423 HT_HAEMATOPOIET... 37 Intron Ins - C uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap...
ERBB4 p.T639A 2 212522510 212522510 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc002veg.1 ERBB4_uc002veh.... Hybrid_Cap... view
ERCC5 p.R670del 13 103510739 103510741 HT_HAEMATOPOIET... 37 In_Frame_Del Del AGA - uc001vpu.1 ERCC5_uc010tjb.... Hybrid_Cap...
ERG 21 39764233 39764233 HT_HAEMATOPOIET... 37 Intron SNP A G uc010gnw.2 ERG_uc002yxa.2_... Hybrid_Cap... view
ETV6 p.D286G 12 12022751 12022751 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc001qzz.2 ETV6_uc001raa.1... Hybrid_Cap... view
EXT1 p.F143L 8 119122859 119122859 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc003yok.1 Hybrid_Cap... view
F12 p.T613A 5 176829304 176829304 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc003mgo.3 PFN3_uc003mgl.2... Hybrid_Cap... view
FAM159A p.V73A 1 53108570 53108570 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc001cuf.2 FAM159A_uc001cu... Hybrid_Cap... view
FANCA p.M262fs 16 89869675 89869675 HT_HAEMATOPOIET... 37 Frame_Shift_Del Del T - uc002fou.1 FANCA_uc010vpn.... Hybrid_Cap...
FANCD2 p.T566A 3 10102017 10102017 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc003buw.2 FANCD2_uc003bux... Hybrid_Cap... view
FBN2 p.Y2521D 5 127611763 127611763 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A C uc003kuu.2 Hybrid_Cap... view
FBN2 p.P1623L 5 127648337 127648337 HT_HAEMATOPOIET... 37 Missense_Mutation SNP G A uc003kuu.2 Hybrid_Cap... view
FGF1 p.R137Q 5 141974913 141974913 HT_HAEMATOPOIET... 37 Missense_Mutation SNP C T uc003lmm.2 FGF1_uc011dbi.1... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 HT_HAEMATOPOIET... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGR p.F104L 1 27949572 27949572 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc001boj.2 FGR_uc001bok.2_... Hybrid_Cap... view
FIGF X 15364237 15364237 HT_HAEMATOPOIET... 37 3'UTR SNP G A uc004cwt.1 Hybrid_Cap... view
FLNA p.H90R X 153599345 153599345 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc004fkk.2 FLNA_uc010nuu.1... Hybrid_Cap... view
FLNB p.V2606I 3 58156403 58156403 HT_HAEMATOPOIET... 37 Missense_Mutation SNP G A uc010hne.2 FLNB_uc003djj.2... Hybrid_Cap... view
FLNC p.T1921I 7 128491602 128491602 HT_HAEMATOPOIET... 37 Missense_Mutation SNP C T uc003vnz.3 FLNC_uc003voa.3... Hybrid_Cap... view
FMN2 p.Q210R 1 240256038 240256038 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap... view
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 HT_HAEMATOPOIET... 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FZD1 p.F373L 7 90895312 90895312 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc003ula.2 Hybrid_Cap... view
GAB1 p.T503P 4 144361457 144361457 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A C uc003ijd.2 GAB1_uc003ije.2... Hybrid_Cap... view
GCK p.V208E 7 44189418 44189418 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A T uc003tkk.1 GCK_uc003tkj.1_... Hybrid_Cap... view
GLTSCR1 p.P935fs 19 48197891 48197891 HT_HAEMATOPOIET... 37 Frame_Shift_Del Del C - uc002phh.3 GLTSCR1_uc002ph... Hybrid_Cap...
GOLGA5 p.Q491P 14 93282747 93282747 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A C uc001yaz.1 Hybrid_Cap... view
GPHN 14 66975185 66975185 HT_HAEMATOPOIET... 37 5'UTR SNP C T uc010tss.1 GPHN_uc001xiw.2... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 HT_HAEMATOPOIET... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 HT_HAEMATOPOIET... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 HT_HAEMATOPOIET... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HAPLN1 5 82937252 82937252 HT_HAEMATOPOIET... 37 3'UTR Del A - uc003kim.2 HAPLN1_uc003kin... Hybrid_Cap...
HDAC1 p.D210G 1 32793271 32793271 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc001bvb.1 HDAC1_uc010ohd.... Hybrid_Cap... view
HDAC6 X 48664565 48664565 HT_HAEMATOPOIET... 37 Intron SNP A G uc011mmi.1 HDAC6_uc004dkr.... Hybrid_Cap... view
HIF1A 14 62213929 62213930 HT_HAEMATOPOIET... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HIPK4 p.T117A 19 40895461 40895461 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc002onp.2 Hybrid_Cap... view
HNF1A 12 121434630 121434631 HT_HAEMATOPOIET... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HNF1A p.D553G 12 121437299 121437299 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc010szn.1 HNF1A_uc001tzg.... Hybrid_Cap... view
HOXD11 p.Y15C 2 176972127 176972127 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc002uki.2 HOXD11_uc010fqx... Hybrid_Cap... view
ICK p.G217V 6 52883141 52883141 HT_HAEMATOPOIET... 37 Missense_Mutation SNP C A uc003pbh.2 ICK_uc003pbi.2_... Hybrid_Cap... view
IDH2 15 90627376 90627376 HT_HAEMATOPOIET... 37 3'UTR Del A - uc002box.2 IDH2_uc010uqb.1... Hybrid_Cap...
IKZF3 p.F146I 17 37947825 37947825 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A T uc002hsu.2 IKZF3_uc002htd.... Hybrid_Cap... view
ILK 11 6630029 6630029 HT_HAEMATOPOIET... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INHBA 7 41729122 41729122 HT_HAEMATOPOIET... 37 3'UTR Del T - uc003thq.2 INHBA_uc003thr.... Hybrid_Cap...
INSRR p.G919fs 1 156814053 156814053 HT_HAEMATOPOIET... 37 Frame_Shift_Del Del C - uc010pht.1 NTRK1_uc001fqf.... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 HT_HAEMATOPOIET... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KCNH2 7 150647241 150647241 HT_HAEMATOPOIET... 37 Intron Del C - uc003wic.2 KCNH2_uc003wib.... Hybrid_Cap...
KDM5A p.S156P 12 475171 475171 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc001qif.1 KDM5A_uc001qie.... Hybrid_Cap... view
KDM6A p.R1163C X 44942751 44942751 HT_HAEMATOPOIET... 37 Missense_Mutation SNP C T uc011mkz.1 KDM6A_uc004dge.... Hybrid_Cap... view
KIAA1549 p.L283fs 7 138603524 138603524 HT_HAEMATOPOIET... 37 Frame_Shift_Del Del A - uc011kql.1 KIAA1549_uc003v... Hybrid_Cap...
KIAA1804 1 233518474 233518474 HT_HAEMATOPOIET... 37 3'UTR SNP T C uc001hvt.3 KIAA1804_uc001h... Hybrid_Cap... view
KLK7 19 51480672 51480675 HT_HAEMATOPOIET... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KLK7 p.T77A 19 51483736 51483736 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap... view
KTN1 14 56150981 56150981 HT_HAEMATOPOIET... 37 3'UTR Del A - uc001xcb.2 KTN1_uc001xce.2... Hybrid_Cap...
LAMA1 18 7043152 7043152 HT_HAEMATOPOIET... 37 Intron SNP T G uc002knm.2 LAMA1_uc010wzj.... Hybrid_Cap... view
LAMA1 p.W313R 18 7044760 7044760 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc002knm.2 LAMA1_uc010wzj.... Hybrid_Cap... view
LAMA1 p.T964A 18 7016589 7016589 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc002knm.2 LAMA1_uc010wzj.... Hybrid_Cap... view
LAMP1 p.I386V 13 113976638 113976638 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc001vtm.1 LAMP1_uc010tka.... Hybrid_Cap... view
LDLR p.N657S 19 11230892 11230892 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc002mqk.3 LDLR_uc010xlk.1... Hybrid_Cap... view
LRP1B p.K3772I 2 141115628 141115628 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T A uc002tvj.1 Hybrid_Cap... view
LRP6 p.I181F 12 12356243 12356243 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T A uc001rah.3 BCL2L14_uc001ra... Hybrid_Cap... view
LRRC2 p.C303G 3 46568938 46568938 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A C uc010hji.2 LRRC2_uc003cpu.... Hybrid_Cap... view
MAF p.G244fs 16 79633068 79633069 HT_HAEMATOPOIET... 37 Frame_Shift_Ins Ins - C uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAGEB16 p.Y259C X 35821089 35821089 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc010ngt.1 Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 HT_HAEMATOPOIET... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 15 66679649 66679650 HT_HAEMATOPOIET... 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MAP3K1 p.T407P 5 56161722 56161722 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A C uc003jqw.3 Hybrid_Cap... view
MAP3K1 p.T949del 5 56177849 56177851 HT_HAEMATOPOIET... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 HT_HAEMATOPOIET... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K5 p.K878N 6 136926392 136926392 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T G uc003qhc.2 MAP3K5_uc011edj... Hybrid_Cap... view
MAP3K6 p.Q521R 1 27688212 27688212 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc001bny.1 MAP3K6_uc009vsw... Hybrid_Cap... view
MAP3K7 6 91226170 91226170 HT_HAEMATOPOIET... 37 3'UTR Del A - uc003pnz.1 MAP3K7_uc003pny... Hybrid_Cap...
MAP3K7 6 91246243 91246243 HT_HAEMATOPOIET... 37 Intron Del A - uc003pnz.1 MAP3K7_uc003pny... Hybrid_Cap...
MAPK4 p.D351G 18 48252530 48252530 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc002lev.2 MAPK4_uc010xdm.... Hybrid_Cap... view
MAST4 5 65892413 65892413 HT_HAEMATOPOIET... 37 5'UTR SNP T G uc003jur.3 MAST4_uc010iwz.... Hybrid_Cap... view
MAST4 p.T2139P 5 66461989 66461989 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A C uc003jut.1 MAST4_uc003juw.... Hybrid_Cap... view
MCM3AP 21 47679172 47679172 HT_HAEMATOPOIET... 37 Intron SNP A G uc002zir.1 MCM3AP_uc002zip... Hybrid_Cap... view
MECOM p.S803N 3 168833252 168833252 HT_HAEMATOPOIET... 37 Missense_Mutation SNP C T uc011bpj.1 MECOM_uc010hwk.... Hybrid_Cap... view
MGA p.K2397R 15 42050036 42050036 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc010ucy.1 MGA_uc010ucz.1_... Hybrid_Cap... view
MLLT10 p.F374Y 10 21962348 21962348 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T A uc001iqs.2 MLLT10_uc001iqt... Hybrid_Cap... view
MLLT11 p.L89* 1 151039966 151039966 HT_HAEMATOPOIET... 37 Nonsense_Mutation SNP T A uc001ewq.2 Hybrid_Cap... view
MLLT4 p.V1818A 6 168370563 168370563 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc003qwd.2 Hybrid_Cap... view
MNX1 p.Q305R 7 156798506 156798506 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc003wnd.1 MNX1_uc003wmz.2... Hybrid_Cap... view
MSH2 p.V606del 2 47702220 47702222 HT_HAEMATOPOIET... 37 In_Frame_Del Del GTC - uc002rvz.2 MSH2_uc010yoh.1... Hybrid_Cap...
MSH3 p.PPA66del 5 79950742 79950750 HT_HAEMATOPOIET... 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MTOR p.N1765D 1 11193208 11193208 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc001asd.2 MTOR_uc001asc.2... Hybrid_Cap... view
MYCN p.E445G 2 16086158 16086158 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc002rci.2 MYCN_uc010yjr.1... Hybrid_Cap... view
MYD88 3 38181791 38181791 HT_HAEMATOPOIET... 37 Intron SNP A G uc003chx.2 MYD88_uc011ayh.... Hybrid_Cap... view
MYH9 p.F607L 22 36705351 36705351 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc003apg.2 MYH9_uc003aph.1... Hybrid_Cap... view
MYLK p.E1430_splice 3 123368043 123368044 HT_HAEMATOPOIET... 37 Splice_Site_Ins Ins - G rs41431347 uc003ego.2 MYLK_uc010hrr.2... Hybrid_Cap...
MYLK p.K759N 3 123426714 123426714 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T G uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap... view
MYO18B p.Y1096H 22 26239779 26239779 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc003abz.1 MYO18B_uc003aca... Hybrid_Cap... view
MYST3 p.P201_splice 8 41845083 41845083 HT_HAEMATOPOIET... 37 Splice_Site_SNP SNP T C uc010lxb.2 MYST3_uc010lxc.... Hybrid_Cap... view
NAV3 p.C2324W 12 78598852 78598852 HT_HAEMATOPOIET... 37 Missense_Mutation SNP C G uc001syp.2 NAV3_uc001syo.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 HT_HAEMATOPOIET... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 HT_HAEMATOPOIET... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 p.W455* 11 113103987 113103987 HT_HAEMATOPOIET... 37 Nonsense_Mutation SNP G A uc009yyq.1 Hybrid_Cap... view
NCAM1 p.M133V 11 113141035 113141035 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc001pns.2 NCAM1_uc001pnt.... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 HT_HAEMATOPOIET... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFATC1 18 77287653 77287654 HT_HAEMATOPOIET... 37 3'UTR Del AA - uc010xfg.1 NFATC1_uc002lnd... Hybrid_Cap...
NFATC1 p.Q824R 18 77246626 77246626 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc010xfg.1 NFATC1_uc002lnd... Hybrid_Cap... view
NFKBIA p.L277P 14 35871676 35871676 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc001wtf.3 NFKBIA_uc001wte... Hybrid_Cap... view
NGF p.R83C 1 115829170 115829170 HT_HAEMATOPOIET... 37 Missense_Mutation SNP G A uc001efu.1 Hybrid_Cap... view
NLRP1 p.S821I 17 5456772 5456772 HT_HAEMATOPOIET... 37 Missense_Mutation SNP C A uc002gci.2 NLRP1_uc002gcg.... Hybrid_Cap... view
NOTCH3 p.D1864G 19 15276674 15276674 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc002nan.2 Hybrid_Cap... view
NPR1 1 153665919 153665920 HT_HAEMATOPOIET... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 HT_HAEMATOPOIET... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR3C1 p.Y334* 5 142779403 142779403 HT_HAEMATOPOIET... 37 Nonsense_Mutation SNP A C uc003lmy.2 NR3C1_uc003lmz.... Hybrid_Cap... view
NRBP1 2 27664762 27664762 HT_HAEMATOPOIET... 37 3'UTR SNP T C uc002rko.2 NRBP1_uc002rkq.... Hybrid_Cap... view
NRBP1 2 27664770 27664770 HT_HAEMATOPOIET... 37 3'UTR SNP T C uc002rko.2 NRBP1_uc002rkq.... Hybrid_Cap... view
NSD1 p.K204R 5 176562715 176562715 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc003mfr.3 NSD1_uc003mft.3... Hybrid_Cap... view
OBSCN p.A3465fs 1 228479653 228479653 HT_HAEMATOPOIET... 37 Frame_Shift_Del Del C - uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap...
OMD 9 95179845 95179845 HT_HAEMATOPOIET... 37 5'UTR Del T - uc004asd.3 CENPP_uc004arz.... Hybrid_Cap...
PAX3 2 223158653 223158653 HT_HAEMATOPOIET... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX5 9 37034095 37034095 HT_HAEMATOPOIET... 37 5'UTR Del C - uc003zzo.1 PAX5_uc011lpw.1... Hybrid_Cap...
PCDH15 p.V814G 10 55782752 55782752 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A C uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap... view
PDCD1 p.Y248F 2 242793334 242793334 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T A uc002wcq.3 PDCD1_uc010fzs.... Hybrid_Cap... view
PDCD11 p.K522fs 10 105176293 105176293 HT_HAEMATOPOIET... 37 Frame_Shift_Del Del A - uc001kwy.1 Hybrid_Cap...
PDGFRA p.Y273S 4 55133514 55133514 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A C uc003han.3 PDGFRA_uc003haa... Hybrid_Cap... view
PDIK1L 1 26449196 26449196 HT_HAEMATOPOIET... 37 3'UTR Del T - uc010oew.1 PDIK1L_uc001blj... Hybrid_Cap...
PI4KB p.I762V 1 151266515 151266515 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc001exr.2 PI4KB_uc001exs.... Hybrid_Cap... view
PIGU p.D252G 20 33176284 33176284 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc002xas.2 PIGU_uc010zul.1... Hybrid_Cap... view
PIK3C2A 11 17111198 17111199 HT_HAEMATOPOIET... 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 HT_HAEMATOPOIET... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3CG p.D192N 7 106508580 106508580 HT_HAEMATOPOIET... 37 Missense_Mutation SNP G A uc003vdv.3 PIK3CG_uc003vdu... Hybrid_Cap... view
PIK3R1 5 67584513 67584513 HT_HAEMATOPOIET... 37 Intron Del T - uc003jva.2 PIK3R1_uc003jvb... Hybrid_Cap...
PIK3R2 p.R94H 19 18266970 18266970 HT_HAEMATOPOIET... 37 Missense_Mutation SNP G A uc002nia.1 PIK3R2_uc002nib... Hybrid_Cap... view
PKHD1 p.L2653R 6 51712722 51712722 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A C uc003pah.1 PKHD1_uc010jzn.... Hybrid_Cap... view
PKN3 p.P90P 9 131468017 131468017 HT_HAEMATOPOIET... 37 Silent SNP T C uc004bvw.2 PKN3_uc010myh.2... Hybrid_Cap... view
PLK2 5 57755014 57755014 HT_HAEMATOPOIET... 37 Intron Del A - uc003jrn.2 PLK2_uc011cql.1... Hybrid_Cap...
PPP3CC p.P498T 8 22398241 22398241 HT_HAEMATOPOIET... 37 Missense_Mutation SNP C A uc011kzi.1 PPP3CC_uc003xbs... Hybrid_Cap... view
PRKCH 14 61788636 61788636 HT_HAEMATOPOIET... 37 5'UTR SNP A G uc001xfn.2 PRKCH_uc010tsa.... Hybrid_Cap... view
PRKD3 2 37480319 37480320 HT_HAEMATOPOIET... 37 Stop_Codon_Ins Ins - T rs79875666 uc002rqd.2 Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 HT_HAEMATOPOIET... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKG1 p.E352D 10 53921703 53921703 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A C uc001jjo.2 PRKG1_uc001jjm.... Hybrid_Cap... view
PSEN1 14 73640613 73640613 HT_HAEMATOPOIET... 37 Intron SNP G A uc001xnr.2 PSEN1_uc001xnv.... Hybrid_Cap... view
PTCH1 9 98278829 98278829 HT_HAEMATOPOIET... 37 5'UTR Del T - uc010mrr.2 PTCH1_uc004avm.... Hybrid_Cap...
PTEN 10 89725294 89725294 HT_HAEMATOPOIET... 37 3'UTR Del T - rs1044487 uc001kfb.2 Hybrid_Cap...
RAD51 p.E50D 15 40993324 40993324 HT_HAEMATOPOIET... 37 Missense_Mutation SNP G T uc010bbx.2 RAD51_uc001zmi.... Hybrid_Cap... view
RANBP17 p.L626* 5 170610182 170610182 HT_HAEMATOPOIET... 37 Nonsense_Mutation SNP T A uc003mba.2 RANBP17_uc003mb... Hybrid_Cap... view
RASGRF1 p.N883D 15 79292232 79292232 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc002beq.2 RASGRF1_uc002be... Hybrid_Cap... view
RB1 p.I517V 13 48955433 48955433 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc001vcb.2 Hybrid_Cap... view
RBL1 20 35632029 35632029 HT_HAEMATOPOIET... 37 Intron Del A - uc002xgi.2 RBL1_uc010zvt.1... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 HT_HAEMATOPOIET... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RFC4 3 186507734 186507734 HT_HAEMATOPOIET... 37 3'UTR SNP A G uc003fqz.2 RFC4_uc011bsc.1... Hybrid_Cap... view
RIMS2 8 104831719 104831719 HT_HAEMATOPOIET... 37 5'UTR Del A - uc003ylw.2 RIMS2_uc003ylp.... Hybrid_Cap...
RIOK1 p.Y210H 6 7402890 7402890 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc003mxn.2 RIOK1_uc003mxm.... Hybrid_Cap... view
ROBO1 p.E1108* 3 78684974 78684974 HT_HAEMATOPOIET... 37 Nonsense_Mutation SNP C A uc003dqe.2 ROBO1_uc003dqb.... Hybrid_Cap... view
ROR2 p.S677P 9 94486747 94486747 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc004arj.1 ROR2_uc004ari.1... Hybrid_Cap... view
RPS6KA1 p.R735* 1 26900660 26900660 HT_HAEMATOPOIET... 37 Nonsense_Mutation SNP C T uc001bms.1 RPS6KA1_uc001bm... Hybrid_Cap... view
RUNX1T1 p.T491P 8 92982987 92982987 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T G uc011lgi.1 RUNX1T1_uc003yf... Hybrid_Cap... view
RUNX1T1 8 93023193 93023193 HT_HAEMATOPOIET... 37 Intron SNP T G uc011lgi.1 RUNX1T1_uc003yf... Hybrid_Cap... view
SACS p.K3988N 13 23906051 23906051 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T G uc001uon.2 SACS_uc001uoo.2... Hybrid_Cap... view
SBDS 7 66453125 66453125 HT_HAEMATOPOIET... 37 3'UTR SNP T C uc003tvm.1 Hybrid_Cap... view
SEPT6 X 118763117 118763117 HT_HAEMATOPOIET... 37 3'UTR SNP T C uc011mtw.1 SEPT6_uc010nqk.... Hybrid_Cap... view
SERPINB4 p.T318P 18 61305174 61305174 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T G uc002ljf.2 SERPINB4_uc002l... Hybrid_Cap... view
SGK269 p.R933C 15 77471472 77471472 HT_HAEMATOPOIET... 37 Missense_Mutation SNP G A uc002bcm.2 SGK269_uc002bcn... Hybrid_Cap... view
SGK269 p.E155G 15 77473805 77473805 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc002bcm.2 SGK269_uc002bcn... Hybrid_Cap... view
SHH p.N81S 7 155604575 155604575 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc003wmk.1 SHH_uc003wmh.1_... Hybrid_Cap... view
SIK3 11 116717110 116717110 HT_HAEMATOPOIET... 37 3'UTR SNP T C uc001ppy.2 SIK3_uc001ppz.2... Hybrid_Cap... view
SIK3 p.I719F 11 116730273 116730273 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T A uc001ppy.2 SIK3_uc001ppz.2... Hybrid_Cap... view
SIRT1 10 69676560 69676560 HT_HAEMATOPOIET... 37 3'UTR Del A - rs67192339 uc001jnd.2 SIRT1_uc010qis.... Hybrid_Cap...
SIRT1 10 69676573 69676573 HT_HAEMATOPOIET... 37 3'UTR SNP T C uc001jnd.2 SIRT1_uc010qis.... Hybrid_Cap... view
SLCO4A1 p.Y427C 20 61297735 61297735 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc002ydb.1 SLCO4A1_uc002yd... Hybrid_Cap... view
SMAD7 p.P209fs 18 46474795 46474795 HT_HAEMATOPOIET... 37 Frame_Shift_Del Del G - uc002ldg.2 SMAD7_uc010xde.... Hybrid_Cap...
SMARCA4 p.C891W 19 11132457 11132457 HT_HAEMATOPOIET... 37 Missense_Mutation SNP C G uc010dxo.2 SMARCA4_uc002mq... Hybrid_Cap... view
SNX19 p.V239G 11 130785119 130785119 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A C uc001qgk.3 SNX19_uc010sce.... Hybrid_Cap... view
SOX10 p.M289T 22 38370037 38370037 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc003aun.1 POLR2F_uc003aum... Hybrid_Cap... view
SPEN p.K1213fs 1 16256372 16256372 HT_HAEMATOPOIET... 37 Frame_Shift_Del Del A - uc001axk.1 SPEN_uc010obp.1... Hybrid_Cap...
SPRY2 13 80910842 80910842 HT_HAEMATOPOIET... 37 3'UTR Del A - rs77511168 uc001vli.2 SPRY2_uc001vlj.... Hybrid_Cap...
SPTAN1 p.S1568N 9 131371508 131371508 HT_HAEMATOPOIET... 37 Missense_Mutation SNP G A uc004bvm.3 SPTAN1_uc004bvl... Hybrid_Cap... view
SPTAN1 p.F2465L 9 131395572 131395572 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc004bvm.3 SPTAN1_uc004bvl... Hybrid_Cap... view
STAT3 p.G534_splice 17 40476727 40476727 HT_HAEMATOPOIET... 37 Splice_Site_SNP SNP A G uc002hzl.1 STAT3_uc002hzk.... Hybrid_Cap... view
STK31 p.V45A 7 23751889 23751889 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc003sws.3 STK31_uc003swt.... Hybrid_Cap... view
STK31 p.D389A 7 23793966 23793966 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A C uc003sws.3 STK31_uc003swt.... Hybrid_Cap... view
STK31 7 23872024 23872025 HT_HAEMATOPOIET... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STK36 p.T861T 2 219561321 219561321 HT_HAEMATOPOIET... 37 Silent SNP T C uc002viu.2 STK36_uc002viv.... Hybrid_Cap... view
STK4 p.V44I 20 43607097 43607097 HT_HAEMATOPOIET... 37 Missense_Mutation SNP G A uc002xnb.2 STK4_uc010ggx.2... Hybrid_Cap... view
TET2 4 106158580 106158580 HT_HAEMATOPOIET... 37 Intron Del T - uc011cez.1 TET2_uc003hxk.2... Hybrid_Cap...
TGFB3 14 76429529 76429529 HT_HAEMATOPOIET... 37 Intron SNP T C uc001xsc.2 TGFB3_uc001xsd.... Hybrid_Cap... view
TGFBR2 p.E150fs 3 30691872 30691872 HT_HAEMATOPOIET... 37 Frame_Shift_Del Del A - uc003cen.2 TGFBR2_uc003ceo... Hybrid_Cap...
TLE1 p.I543V 9 84205952 84205952 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc004alz.2 TLE1_uc004aly.2... Hybrid_Cap... view
TLK1 2 171911573 171911573 HT_HAEMATOPOIET... 37 Intron SNP A G uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap... view
TLN1 p.P1628L 9 35707141 35707141 HT_HAEMATOPOIET... 37 Missense_Mutation SNP G A uc003zxt.2 Hybrid_Cap... view
TLR3 4 187003454 187003454 HT_HAEMATOPOIET... 37 Intron Del T - uc003iyq.2 TLR3_uc011ckz.1... Hybrid_Cap...
TLR9 p.D648G 3 52256680 52256680 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc003ddb.2 TLR9_uc003dda.1... Hybrid_Cap... view
TMEM123 11 102269398 102269398 HT_HAEMATOPOIET... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNFRSF13B p.V29G 17 16855873 16855873 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A C uc002gqs.1 TNFRSF13B_uc010... Hybrid_Cap... view
TNFRSF1B p.Q317P 1 12262073 12262073 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A C uc001att.2 TNFRSF1B_uc001a... Hybrid_Cap... view
TNFSF10 p.R227R 3 172224447 172224447 HT_HAEMATOPOIET... 37 Silent SNP T C uc003fid.2 TNFSF10_uc003fi... Hybrid_Cap... view
TNIK 3 170819514 170819514 HT_HAEMATOPOIET... 37 Intron Del A - uc003fhh.2 TNIK_uc003fhi.2... Hybrid_Cap...
TNKS2 p.T619fs 10 93601946 93601946 HT_HAEMATOPOIET... 37 Frame_Shift_Del Del A - uc001khp.2 Hybrid_Cap...
TOP2A p.R1435fs 17 38546381 38546381 HT_HAEMATOPOIET... 37 Frame_Shift_Del Del T - uc002huq.2 Hybrid_Cap...
TP53 p.V216M 17 7578203 7578203 HT_HAEMATOPOIET... 37 Missense_Mutation SNP C T uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 HT_HAEMATOPOIET... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TPH1 p.E303K 11 18047145 18047145 HT_HAEMATOPOIET... 37 Missense_Mutation SNP C T uc001mnp.2 TPH1_uc009yhe.2... Hybrid_Cap... view
TRPM6 p.I1725T 9 77357503 77357503 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc004ajl.1 TRPM6_uc004ajk.... Hybrid_Cap... view
TRPM6 p.F1457C 9 77377217 77377217 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A C uc004ajl.1 TRPM6_uc004ajk.... Hybrid_Cap... view
TRPM7 p.Q585P 15 50905920 50905920 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T G uc001zyt.3 TRPM7_uc010bew.... Hybrid_Cap... view
TRPS1 p.N1289fs 8 116426270 116426270 HT_HAEMATOPOIET... 37 Frame_Shift_Del Del T - uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TRPS1 8 116635872 116635873 HT_HAEMATOPOIET... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TRRAP p.I467fs 7 98507728 98507728 HT_HAEMATOPOIET... 37 Frame_Shift_Del Del T - uc003upp.2 TRRAP_uc011kis.... Hybrid_Cap...
TTK p.G855fs 6 80751910 80751910 HT_HAEMATOPOIET... 37 Frame_Shift_Del Del A - uc003pjc.2 TTK_uc003pjb.3_... Hybrid_Cap...
TTN p.L30947V 2 179400931 179400931 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.V27245A 2 179418294 179418294 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.P20382S 2 179442214 179442214 HT_HAEMATOPOIET... 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.I16278T 2 179463983 179463983 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.Y3901C 2 179599117 179599117 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
UBE3B p.K974T 12 109968462 109968462 HT_HAEMATOPOIET... 37 Missense_Mutation SNP A C uc001top.2 UBE3B_uc001toq.... Hybrid_Cap... view
URB2 p.V456A 1 229771727 229771727 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc001hts.1 URB2_uc009xfd.1... Hybrid_Cap... view
URB2 p.T1302_splice 1 229781718 229781718 HT_HAEMATOPOIET... 37 Splice_Site_SNP SNP T C uc001hts.1 URB2_uc009xfd.1... Hybrid_Cap... view
VEGFA 6 43752466 43752466 HT_HAEMATOPOIET... 37 3'UTR SNP T G uc003owh.2 VEGFA_uc003owd.... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 HT_HAEMATOPOIET... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WEE2 p.S343R 7 141423742 141423742 HT_HAEMATOPOIET... 37 Missense_Mutation SNP T A uc003vwn.2 FLJ40852_uc011k... Hybrid_Cap... view
WHSC1 4 1954978 1954978 HT_HAEMATOPOIET... 37 Intron SNP A G uc003gdz.3 WHSC1_uc003geb.... Hybrid_Cap... view
WNK4 p.E1027D 17 40947701 40947701 HT_HAEMATOPOIET... 37 Missense_Mutation SNP G T uc002ibj.2 WNK4_uc010wgx.1... Hybrid_Cap... view
ZNF521 p.N411K 18 22806649 22806649 HT_HAEMATOPOIET... 37 Missense_Mutation SNP G T uc002kvk.2 ZNF521_uc010xbe... Hybrid_Cap... view