Annotation Summary for Cell Line: SUP-HD1  

Cell line primary name: SUP-HD1
Cell line aliases:
Gender: M
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: Hodgkin_lymphoma
Notes:
Source: DSMZ
Expression arrays: SILOS_p_NCLE_RNA9_HG-U133_Plus_2_D12_523594
SNP arrays: AWASH_p_NCLE_DNAAffy10_GenomeWideSNP_6_B04_542818
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SUP-HD1

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 SUPHD1_HAEMATOP... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ACACA p.E554V 17 35615135 35615135 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP T A uc002hno.2 ACACA_uc002hnk.... Hybrid_Cap... view
ADAM28 8 24211994 24211997 SUPHD1_HAEMATOP... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAM29 4 175899313 175899313 SUPHD1_HAEMATOP... 37 3'UTR Del A - uc003iuc.2 ADAM29_uc003iud... Hybrid_Cap...
ADAM6 14 106330417 106330417 SUPHD1_HAEMATOP... 37 Splice_Site_SNP SNP G C uc010tyt.1 Hybrid_Cap... view
ADAMTS19 p.C294F 5 128844921 128844921 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G T uc003kvb.1 ADAMTS19_uc003k... Hybrid_Cap... view
ADHFE1 p.R55K 8 67356621 67356621 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc003xwb.3 ADHFE1_uc003xwd... Hybrid_Cap... view
AFF1 p.S290N 4 87968556 87968556 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc011ccz.1 AFF1_uc011ccx.1... Hybrid_Cap... view
AFF4 p.R935K 5 132223667 132223667 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc003kyd.2 AFF4_uc011cxk.1... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 SUPHD1_HAEMATOP... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKT2 p.E249K 19 40743962 40743962 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc002onf.2 AKT2_uc010egs.2... Hybrid_Cap... view
ALPK2 p.EDTST1006del 18 56204388 56204402 SUPHD1_HAEMATOP... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
AMZ2 17 66246264 66246264 SUPHD1_HAEMATOP... 37 Intron SNP G A uc002jgs.1 AMZ2_uc002jgr.1... Hybrid_Cap... view
ANGPTL4 p.G313S 19 8436304 8436304 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc002mjq.1 ANGPTL4_uc002mj... Hybrid_Cap... view
ARFGEF1 p.W1520S 8 68130071 68130071 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C G uc003xxo.1 ARFGEF1_uc003xx... Hybrid_Cap... view
ATF2 2 175979367 175979367 SUPHD1_HAEMATOP... 37 Intron Del A - uc002ujl.2 ATF2_uc010fqv.2... Hybrid_Cap...
BAX 19 49464508 49464508 SUPHD1_HAEMATOP... 37 3'UTR Del T - uc002plf.1 BAX_uc002plg.1_... Hybrid_Cap...
BCR 22 23631813 23631814 SUPHD1_HAEMATOP... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BLNK p.W64* 10 97990562 97990562 SUPHD1_HAEMATOP... 37 Nonsense_Mutation SNP C T uc001kls.3 BLNK_uc001kme.3... Hybrid_Cap... view
BTG1 p.S43I 12 92539184 92539184 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C A uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap... view
CAD p.P365S 2 27446882 27446882 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc002rji.2 CAD_uc010eyw.2_... Hybrid_Cap... view
CARD9 9 139262051 139262051 SUPHD1_HAEMATOP... 37 Intron SNP G A uc004chg.3 CARD9_uc011mdw.... Hybrid_Cap... view
CASP4 11 104822469 104822469 SUPHD1_HAEMATOP... 37 Intron SNP T C uc001pid.1 CASP4_uc001pib.... Hybrid_Cap... view
CASP6 p.G10R 4 110624524 110624524 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc003hzn.1 CASP6_uc003hzo.... Hybrid_Cap... view
CDK12 p.G15E 17 37618368 37618368 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc010cvv.2 CDK12_uc010wef.... Hybrid_Cap... view
CDK3 p.T186A 17 73998485 73998485 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP A G uc002jqg.3 CDK3_uc010dgt.2... Hybrid_Cap... view
CDK7 p.D216N 5 68565052 68565052 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc003jvs.3 CDK7_uc003jvt.3... Hybrid_Cap... view
CDKL3 p.Q384E 5 133644043 133644043 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G C uc003kzf.3 CDKL3_uc011cxm.... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 SUPHD1_HAEMATOP... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHD1 p.N1581S 5 98193929 98193929 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP T C uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap... view
CHRNA3 15 78888898 78888898 SUPHD1_HAEMATOP... 37 3'UTR SNP C T uc002bec.2 CHRNA3_uc002bea... Hybrid_Cap... view
CHUK p.E704K 10 101950724 101950724 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc001kqp.2 Hybrid_Cap... view
CLK1 p.G172E 2 201725962 201725962 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc010zhi.1 CLK1_uc002uwe.2... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 SUPHD1_HAEMATOP... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 3 1339718 1339718 SUPHD1_HAEMATOP... 37 Intron Del T - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
COL4A3BP p.S501N 5 74695205 74695205 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc003kdt.2 COL4A3BP_uc011c... Hybrid_Cap... view
CREBBP p.Q790* 16 3823847 3823847 SUPHD1_HAEMATOP... 37 Nonsense_Mutation SNP G A uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CSNK1A1 p.G187D 5 148892753 148892753 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc003lqw.1 CSNK1A1_uc011dc... Hybrid_Cap... view
CSNK1E p.P364S 22 38690243 38690243 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc003avj.2 CSNK1E_uc003avk... Hybrid_Cap... view
CYP2B6 19 41522750 41522750 SUPHD1_HAEMATOP... 37 3'UTR SNP G A uc002opr.1 CYP2A7_uc002opo... Hybrid_Cap... view
DGKB p.S129F 7 14758247 14758247 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap... view
DICER1 p.R688Q 14 95578562 95578562 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc001ydw.2 DICER1_uc001ydv... Hybrid_Cap... view
DST p.D3751N 6 56393711 56393711 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST 6 56480319 56480319 SUPHD1_HAEMATOP... 37 Intron SNP G A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
EDNRB p.D514N 13 78472373 78472373 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc001vkp.1 EDNRB_uc001vkq.... Hybrid_Cap... view
EGF 4 110834373 110834373 SUPHD1_HAEMATOP... 37 5'UTR SNP C T uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap... view
EGFR p.S811F 7 55249134 55249134 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc003tqk.2 EGFR_uc010kzg.1... Hybrid_Cap... view
EIF2B5 3 183854531 183854531 SUPHD1_HAEMATOP... 37 Intron SNP C T uc003fmp.2 EIF2B5_uc010hxs... Hybrid_Cap... view
EIF4G1 p.P1046L 3 184043422 184043422 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc010hxx.2 EIF4G1_uc003fnp... Hybrid_Cap... view
EIF4G1 p.W1403* 3 184049080 184049080 SUPHD1_HAEMATOP... 37 Nonsense_Mutation SNP G A uc010hxx.2 EIF4G1_uc003fnp... Hybrid_Cap... view
ELF4 p.R267Q X 129205024 129205024 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc004evd.3 ELF4_uc004eve.3... Hybrid_Cap... view
EP300 p.P2358L 22 41574788 41574788 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc003azl.3 Hybrid_Cap... view
EP300 22 41574970 41574972 SUPHD1_HAEMATOP... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA3 3 89156722 89156722 SUPHD1_HAEMATOP... 37 5'UTR SNP G A uc003dqy.2 EPHA3_uc003dqx.... Hybrid_Cap... view
EPHA4 p.F600I 2 222308303 222308303 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP A T uc002vmq.2 EPHA4_uc002vmr.... Hybrid_Cap... view
ERBB3 p.T1254A 12 56495570 56495570 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP A G uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap... view
EWSR1 p.Q166* 22 29678443 29678443 SUPHD1_HAEMATOP... 37 Nonsense_Mutation SNP C T uc003aev.2 EWSR1_uc003aes.... Hybrid_Cap... view
EWSR1 22 29687480 29687481 SUPHD1_HAEMATOP... 37 Intron Ins - C rs66871950 uc003aev.2 EWSR1_uc003aet.... Hybrid_Cap...
FANCA 16 89865536 89865536 SUPHD1_HAEMATOP... 37 Intron SNP C T uc002fou.1 FANCA_uc010vpn.... Hybrid_Cap... view
FLCN 17 17116961 17116961 SUPHD1_HAEMATOP... 37 3'UTR SNP G A uc002gra.3 PLD6_uc010cpn.2... Hybrid_Cap... view
FLI1 11 128638217 128638217 SUPHD1_HAEMATOP... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 SUPHD1_HAEMATOP... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FN1 p.V1147E 2 216262480 216262480 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP A T uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap... view
FNBP1 p.S359T 9 132686218 132686218 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP A T uc004byw.1 FNBP1_uc011mbv.... Hybrid_Cap... view
GATA2 p.G468S 3 128199903 128199903 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc003ekm.3 GATA2_uc003ekn.... Hybrid_Cap... view
GLYAT p.N39H 11 58482863 58482863 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP T G uc001nnb.2 GLYAT_uc001nnc.... Hybrid_Cap... view
GNRH1 p.G34E 8 25280746 25280746 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc003xem.3 PPP2R2A_uc003xe... Hybrid_Cap... view
GRIA3 X 122318386 122318387 SUPHD1_HAEMATOP... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRK1 p.F249L 13 114324047 114324047 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP T C uc010tkf.1 Hybrid_Cap... view
GUCY2C 12 14827464 14827466 SUPHD1_HAEMATOP... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HERC2 p.A3435T 15 28413663 28413663 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc001zbj.2 Hybrid_Cap... view
HERC2 p.G522E 15 28513644 28513644 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc001zbj.2 HERC2_uc001zbl.... Hybrid_Cap... view
HNRNPH1 p.R294W 5 179044841 179044841 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc003mkf.3 HNRNPH1_uc011dg... Hybrid_Cap... view
HSP90AB1 p.A112T 6 44217300 44217300 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc003oxa.1 HSP90AB1_uc011d... Hybrid_Cap... view
ID1 p.A141T 20 30193611 30193611 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc002wwg.1 ID1_uc002wwh.1_... Hybrid_Cap... view
IGF1R p.T677I 15 99459934 99459934 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc002bul.2 IGF1R_uc010urq.... Hybrid_Cap... view
IGFBP5 p.R117H 2 217543790 217543790 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc002vgj.3 Hybrid_Cap... view
IKZF1 p.G14_splice 7 50358699 50358699 SUPHD1_HAEMATOP... 37 Splice_Site_SNP SNP T C uc003tow.3 IKZF1_uc003tox.... Hybrid_Cap... view
ILK 11 6630029 6630029 SUPHD1_HAEMATOP... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INSR p.D1251N 19 7119503 7119503 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc002mgd.1 INSR_uc002mge.1... Hybrid_Cap... view
IRF4 6 397075 397075 SUPHD1_HAEMATOP... 37 Intron SNP C T uc003msz.3 IRF4_uc010jne.1... Hybrid_Cap... view
IRS1 p.G597fs 2 227661664 227661664 SUPHD1_HAEMATOP... 37 Frame_Shift_Del Del C - uc002voh.3 Hybrid_Cap...
IRS1 p.G133E 2 227663057 227663057 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc002voh.3 Hybrid_Cap... view
ITPR1 p.G2650E 3 4878522 4878522 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc003bqa.2 ITPR1_uc010hca.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 SUPHD1_HAEMATOP... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAG2 p.R58C 14 105634339 105634339 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc001yqg.2 JAG2_uc001yqh.2... Hybrid_Cap... view
KDR p.V1207E 4 55953816 55953816 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP A T uc003has.2 KDR_uc003hat.1_... Hybrid_Cap... view
KIT p.G676D 4 55595537 55595537 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc010igr.2 KIT_uc010igs.2_... Hybrid_Cap... view
KLK7 19 51480672 51480675 SUPHD1_HAEMATOP... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KSR1 p.Q631* 17 25937103 25937103 SUPHD1_HAEMATOP... 37 Nonsense_Mutation SNP C T uc010crg.2 KSR1_uc002gzm.2... Hybrid_Cap... view
LAMA1 p.R256_splice 18 7049075 7049075 SUPHD1_HAEMATOP... 37 Splice_Site_SNP SNP A C uc002knm.2 LAMA1_uc010wzj.... Hybrid_Cap... view
LAMA1 p.V2542M 18 6961587 6961587 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc002knm.2 LAMA1_uc002knl.... Hybrid_Cap... view
LATS2 13 21620223 21620223 SUPHD1_HAEMATOP... 37 5'UTR Del A - rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
LOC100130776 p.S114fs 12 58121116 58121116 SUPHD1_HAEMATOP... 37 Frame_Shift_Del Del C - uc001sps.3 AGAP2_uc001spo.... Hybrid_Cap...
LRP1 p.D1385N 12 57570985 57570985 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc001snd.2 Hybrid_Cap... view
LRP1 p.T1425I 12 57571287 57571287 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc001snd.2 Hybrid_Cap... view
LRP1B p.C2799Y 2 141267499 141267499 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc002tvj.1 Hybrid_Cap... view
LRP1B p.V309D 2 141946077 141946077 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP A T uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
LRP2 p.Y2110S 2 170066103 170066103 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP T G uc002ues.2 Hybrid_Cap... view
LRP2 p.N218_splice 2 170148881 170148881 SUPHD1_HAEMATOP... 37 Splice_Site_SNP SNP T A uc002ues.2 LRP2_uc010zdf.1... Hybrid_Cap... view
LRRC7 p.E195K 1 70397239 70397239 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc001dep.2 LRRC7_uc009wbg.... Hybrid_Cap... view
LRRK2 p.E2516K 12 40761529 40761529 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc001rmg.3 LRRK2_uc009zjw.... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 SUPHD1_HAEMATOP... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 SUPHD1_HAEMATOP... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K11 p.P150S 11 65380780 65380780 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc001oew.2 MAP3K11_uc010ro... Hybrid_Cap... view
MAP3K14 p.R218_splice 17 43364293 43364294 SUPHD1_HAEMATOP... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K2 p.D97N 2 128088057 128088057 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc002toj.1 MAP3K2_uc010flz... Hybrid_Cap... view
MAP3K7 6 91226170 91226170 SUPHD1_HAEMATOP... 37 3'UTR Del A - uc003pnz.1 MAP3K7_uc003pny... Hybrid_Cap...
MAPK7 p.V722_splice 17 19286125 19286125 SUPHD1_HAEMATOP... 37 Splice_Site_SNP SNP G A uc002gvn.2 MAPK7_uc002gvo.... Hybrid_Cap... view
MAPK7 p.D138D 17 19283936 19283936 SUPHD1_HAEMATOP... 37 Silent SNP C T uc002gvn.2 B9D1_uc010cqm.1... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 SUPHD1_HAEMATOP... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MAPKBP1 15 42111753 42111754 SUPHD1_HAEMATOP... 37 Intron Ins - C rs3034891 uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MAST3 p.A1148V 19 18260049 18260049 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc002nhz.3 Hybrid_Cap... view
MET p.R811H 7 116403117 116403117 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc010lkh.2 MET_uc003vij.2_... Hybrid_Cap... view
MLLT4 p.P1215S 6 168348994 168348994 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc003qwd.2 MLLT4_uc003qwb.... Hybrid_Cap... view
MSH2 p.Q429* 2 47672695 47672695 SUPHD1_HAEMATOP... 37 Nonsense_Mutation SNP C T uc002rvz.2 MSH2_uc010yoh.1... Hybrid_Cap... view
MSH3 p.V304M 5 79968560 79968560 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc003kgz.2 Hybrid_Cap... view
MTMR11 p.P537P 1 149902293 149902293 SUPHD1_HAEMATOP... 37 Silent SNP T A uc001etl.3 SF3B4_uc001etj.... Hybrid_Cap... view
MYB p.Q565fs 6 135520172 135520173 SUPHD1_HAEMATOP... 37 Frame_Shift_Ins Ins - A uc003qfh.2 MYB_uc003qfc.2_... Hybrid_Cap...
MYD88 3 38182806 38182806 SUPHD1_HAEMATOP... 37 3'UTR SNP G A uc003chx.2 MYD88_uc011ayi.... Hybrid_Cap... view
MYO3B 2 171376092 171376092 SUPHD1_HAEMATOP... 37 Intron SNP T A uc002ufy.2 MYO3B_uc002ufv.... Hybrid_Cap... view
MYST3 p.M482K 8 41832259 41832259 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP A T uc010lxb.2 MYST3_uc010lxc.... Hybrid_Cap... view
NACA p.G952E 12 57112459 57112459 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc009zoy.1 NACA_uc001slz.2... Hybrid_Cap... view
NCAM1 11 112832277 112832277 SUPHD1_HAEMATOP... 37 5'UTR Del G - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832307 112832308 SUPHD1_HAEMATOP... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SUPHD1_HAEMATOP... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCKIPSD p.A466T 3 48717101 48717101 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc003cun.2 NCKIPSD_uc003cu... Hybrid_Cap... view
NEK2 p.S387N 1 211836946 211836946 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc001hir.1 NEK2_uc001hiq.1... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 SUPHD1_HAEMATOP... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NIN 14 51190065 51190065 SUPHD1_HAEMATOP... 37 3'UTR SNP A T uc001wyi.2 NIN_uc001wyj.2_... Hybrid_Cap... view
NIN p.S27S 14 51288694 51288694 SUPHD1_HAEMATOP... 37 Silent SNP G A uc001wyi.2 NIN_uc001wyj.2_... Hybrid_Cap... view
NPR1 1 153665919 153665920 SUPHD1_HAEMATOP... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 SUPHD1_HAEMATOP... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NRK p.Q532* X 105153227 105153227 SUPHD1_HAEMATOP... 37 Nonsense_Mutation SNP C T uc004emd.2 NRK_uc010npc.1_... Hybrid_Cap... view
NUMA1 p.R328W 11 71728870 71728870 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc001orl.1 NUMA1_uc009ysw.... Hybrid_Cap... view
NUP210 p.S326N 3 13420480 13420480 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc003bxv.1 NUP210_uc003bxx... Hybrid_Cap... view
OBSCN p.A940P 1 228412324 228412324 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G C uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
OBSCN p.R5926C 1 228528874 228528874 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
PAK2 p.P442S 3 196547412 196547412 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc003fwy.3 Hybrid_Cap... view
PAK7 20 9519911 9519911 SUPHD1_HAEMATOP... 37 3'UTR SNP A T uc002wnl.2 PAK7_uc002wnk.2... Hybrid_Cap... view
PAPPA p.L405F 9 118950230 118950230 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc004bjn.2 PAPPA_uc011lxp.... Hybrid_Cap... view
PARP1 1 226549021 226549021 SUPHD1_HAEMATOP... 37 3'UTR SNP C T uc001hqd.3 Hybrid_Cap... view
PAX3 2 223158653 223158653 SUPHD1_HAEMATOP... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PCM1 8 17813218 17813218 SUPHD1_HAEMATOP... 37 Intron Del T - uc003wyi.3 PCM1_uc011kyh.1... Hybrid_Cap...
PCM1 p.D1589H 8 17851066 17851066 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G C uc003wyi.3 PCM1_uc011kyh.1... Hybrid_Cap... view
PDE4DIP p.R2329M 1 144854178 144854178 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C A uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDE4DIP p.T2284I 1 144854619 144854619 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDE4DIP 1 144892196 144892196 SUPHD1_HAEMATOP... 37 Intron SNP G T uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDGFA p.R231S 7 540682 540682 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C G uc003sit.1 PDGFA_uc003sir.... Hybrid_Cap... view
PER1 17 8045278 8045278 SUPHD1_HAEMATOP... 37 Intron SNP C T uc002gkd.2 PER1_uc010cns.2... Hybrid_Cap... view
PEX5L p.L535P 3 179525533 179525534 SUPHD1_HAEMATOP... 37 Missense_Mutation DNP CA AG uc003fki.1 PEX5L_uc011bqd.... Hybrid_Cap...
PHIP p.K1809fs 6 79650450 79650450 SUPHD1_HAEMATOP... 37 Frame_Shift_Del Del T - uc003pir.2 PHIP_uc003piq.2... Hybrid_Cap...
PHKG2 16 30762791 30762791 SUPHD1_HAEMATOP... 37 Intron SNP C T uc002dzi.1 PHKG2_uc002dzj.... Hybrid_Cap... view
PIK3C2A p.K1227K 11 17126716 17126716 SUPHD1_HAEMATOP... 37 Silent SNP C T uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap... view
PIK3C2A p.R582K 11 17158132 17158132 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap... view
PIK3C2B p.R1008W 1 204412571 204412571 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc001haw.2 PIK3C2B_uc010pq... Hybrid_Cap... view
PIK3CD p.R229W 1 9776582 9776582 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc001aqe.3 PIK3CD_uc001aqb... Hybrid_Cap... view
PKN3 p.R431H 9 131476380 131476380 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc004bvw.2 PKN3_uc010myh.2... Hybrid_Cap... view
PLAG1 8 57080878 57080878 SUPHD1_HAEMATOP... 37 5'UTR SNP C T uc003xsq.3 PLAG1_uc003xsr.... Hybrid_Cap... view
PLD1 p.D471G 3 171406593 171406593 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP T C uc003fhs.2 PLD1_uc003fht.2... Hybrid_Cap... view
PLK2 p.L310F 5 57753086 57753086 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP T A uc003jrn.2 Hybrid_Cap... view
POU5F1 6 31138440 31138440 SUPHD1_HAEMATOP... 37 5'UTR SNP G A uc003nsv.2 Hybrid_Cap... view
PPM1E p.Y11C 17 56833390 56833390 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP A G uc002iwx.2 PPM1E_uc010ddd.... Hybrid_Cap... view
PRDM16 1 3350457 3350457 SUPHD1_HAEMATOP... 37 3'UTR SNP C T uc001akf.2 PRDM16_uc001akc... Hybrid_Cap... view
PREX2 p.V1266I 8 69046323 69046323 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc003xxv.1 Hybrid_Cap... view
PREX2 p.A1411_splice 8 69058588 69058588 SUPHD1_HAEMATOP... 37 Splice_Site_SNP SNP G A uc003xxv.1 Hybrid_Cap... view
PRKAA2 p.T485A 1 57173180 57173180 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP A G uc001cyk.3 Hybrid_Cap... view
PRKD1 14 30046391 30046391 SUPHD1_HAEMATOP... 37 3'UTR SNP C T uc001wqh.2 Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 SUPHD1_HAEMATOP... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKDC p.L1244_splice 8 48805817 48805818 SUPHD1_HAEMATOP... 37 Splice_Site_Ins Ins - A uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRPF4B p.M639I 6 4047464 4047464 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc003mvv.2 PRPF4B_uc003mvw... Hybrid_Cap... view
PRPF4B p.G869D 6 4057294 4057294 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc003mvv.2 PRPF4B_uc003mvw... Hybrid_Cap... view
PTEN p.L25Q 10 89624299 89624300 SUPHD1_HAEMATOP... 37 Missense_Mutation DNP TT CA uc001kfb.2 KILLIN_uc009xti... Hybrid_Cap...
PTGS2 p.L553F 1 186643643 186643643 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc001gsb.2 PTGS2_uc009wyo.... Hybrid_Cap... view
PTPRC p.P659L 1 198701436 198701436 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc001gur.1 PTPRC_uc001gus.... Hybrid_Cap... view
PTPRC p.E1241K 1 198725116 198725116 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc001gur.1 PTPRC_uc001gus.... Hybrid_Cap... view
RAD51L1 p.T299I 14 68878183 68878183 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc010aqs.1 RAD51L1_uc001xk... Hybrid_Cap... view
RAPGEF2 4 160189201 160189201 SUPHD1_HAEMATOP... 37 5'UTR Del T - uc003iqg.3 Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 SUPHD1_HAEMATOP... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
REM1 p.R267H 20 30072136 30072136 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc002wwa.2 NCRNA00028_uc01... Hybrid_Cap... view
RGL1 p.V144M 1 183816886 183816886 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc001gqm.2 RGL1_uc010pof.1... Hybrid_Cap... view
RIF1 p.S1576R 2 152320760 152320760 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP A C uc002txm.2 RIF1_uc002txl.2... Hybrid_Cap... view
RIMS2 p.R1272I 8 105263321 105263321 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G T uc003yls.2 RIMS2_uc003ylp.... Hybrid_Cap... view
RIPK3 p.P492fs 14 24805462 24805463 SUPHD1_HAEMATOP... 37 Frame_Shift_Ins Ins - G rs3212254 uc001wpb.2 ADCY4_uc001wov.... Hybrid_Cap...
ROCK2 2 11323520 11323520 SUPHD1_HAEMATOP... 37 3'UTR SNP G A uc002rbd.1 Hybrid_Cap... view
ROCK2 p.Q798H 2 11348007 11348007 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP T A uc002rbd.1 Hybrid_Cap... view
ROR2 p.M198L 9 94499703 94499703 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP T A uc004arj.1 ROR2_uc004ari.1... Hybrid_Cap... view
RPS6KA6 p.D658Y X 83320119 83320119 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C A uc004eej.1 RPS6KA6_uc011mq... Hybrid_Cap... view
RPS6KA6 p.S555T X 83357158 83357158 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP A T uc004eej.1 RPS6KA6_uc011mq... Hybrid_Cap... view
RPS6KB2 p.P268L 11 67200815 67200815 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc001old.2 RPS6KB2_uc001ol... Hybrid_Cap... view
RPS6KL1 14 75373626 75373627 SUPHD1_HAEMATOP... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
RUNX1 21 36193960 36193960 SUPHD1_HAEMATOP... 37 Intron SNP C T uc010gmu.2 RUNX1_uc002yuh.... Hybrid_Cap... view
SACS p.I1395F 13 23913832 23913832 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP T A uc001uon.2 SACS_uc001uoo.2... Hybrid_Cap... view
SCYL1 p.R779H 11 65305946 65305946 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc001oea.1 SCYL1_uc009yqk.... Hybrid_Cap... view
SGK269 p.K936* 15 77471463 77471463 SUPHD1_HAEMATOP... 37 Nonsense_Mutation SNP T A uc002bcm.2 SGK269_uc002bcn... Hybrid_Cap... view
SGK3 p.L61_splice 8 67716609 67716609 SUPHD1_HAEMATOP... 37 Splice_Site_SNP SNP G A uc003xwr.2 SGK3_uc003xwp.2... Hybrid_Cap... view
SGK3 p.Q231* 8 67748259 67748259 SUPHD1_HAEMATOP... 37 Nonsense_Mutation SNP C T uc003xwr.2 SGK3_uc003xwp.2... Hybrid_Cap... view
SHC1 p.R497Q 1 154938155 154938155 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc001ffw.2 SHC1_uc001ffu.2... Hybrid_Cap... view
SLC14A1 p.P69L 18 43310323 43310323 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc010dnk.2 SLC14A1_uc010xc... Hybrid_Cap... view
SMURF2 p.K734N 17 62542011 62542011 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C A uc002jep.1 SMURF2_uc002jeq... Hybrid_Cap... view
SORL1 p.G568E 11 121414274 121414274 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc001pxx.2 Hybrid_Cap... view
STAT6 p.D468H 12 57496662 57496662 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C G rs11172102 uc009zpg.2 STAT6_uc009zpe.... Hybrid_Cap... view
STK31 7 23872024 23872025 SUPHD1_HAEMATOP... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STK32B p.W87_splice 4 5170178 5170178 SUPHD1_HAEMATOP... 37 Splice_Site_SNP SNP G A uc003gih.1 STK32B_uc010ida... Hybrid_Cap... view
STK38L 12 27468197 27468197 SUPHD1_HAEMATOP... 37 Intron SNP T C uc001rhr.2 STK38L_uc001rhs... Hybrid_Cap... view
STK40 p.I337N 1 36809470 36809470 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP A T uc001cal.1 STK40_uc001cak.... Hybrid_Cap... view
TACC3 p.H307L 4 1730049 1730049 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP A T uc003gdo.2 TACC3_uc010ibz.... Hybrid_Cap... view
TACC3 p.E695D 4 1742575 1742575 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP A T uc003gdo.2 TACC3_uc003gdp.... Hybrid_Cap... view
TBCK p.G10V 4 107230089 107230089 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C A uc010ilv.2 TBCK_uc003hye.2... Hybrid_Cap... view
TBX18 p.Q495fs 6 85446744 85446744 SUPHD1_HAEMATOP... 37 Frame_Shift_Del Del G - uc003pkl.1 TBX18_uc010kbq.... Hybrid_Cap...
TEK p.D152N 9 27168582 27168582 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc003zqi.3 TEK_uc010mjc.1_... Hybrid_Cap... view
TESK2 p.P397L 1 45811038 45811038 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc001cns.1 TESK2_uc009vxr.... Hybrid_Cap... view
TFDP1 p.S30S 13 114277505 114277505 SUPHD1_HAEMATOP... 37 Silent SNP C T uc001vtw.2 TFDP1_uc010tkd.... Hybrid_Cap... view
THBS3 1 155171889 155171889 SUPHD1_HAEMATOP... 37 Intron SNP C T uc001fix.2 RAG1AP1_uc010pe... Hybrid_Cap... view
TLE1 9 84205584 84205584 SUPHD1_HAEMATOP... 37 Intron SNP C T uc004alz.2 TLE1_uc004aly.2... Hybrid_Cap... view
TLN1 p.N534S 9 35719602 35719602 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP T C uc003zxt.2 Hybrid_Cap... view
TLX1 p.T197M 10 102893953 102893953 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc001ksw.2 Hybrid_Cap... view
TMEM123 11 102269597 102269597 SUPHD1_HAEMATOP... 37 3'UTR SNP C T uc001pha.2 TMEM123_uc009yx... Hybrid_Cap... view
TNFAIP3 p.L92fs 6 138192638 138192639 SUPHD1_HAEMATOP... 37 Frame_Shift_Ins Ins - TTGTGGCGCT uc003qhr.2 TNFAIP3_uc003qh... Hybrid_Cap...
TOP2B p.E1051K 3 25660238 25660238 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc003cdj.2 TOP2B_uc011awn.... Hybrid_Cap... view
TP63 3 189507518 189507519 SUPHD1_HAEMATOP... 37 Intron Ins - AG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TP73 p.L214R 1 3639942 3639942 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP T G uc001akp.2 TP73_uc001akq.2... Hybrid_Cap... view
TRPM6 p.K1085Q 9 77390949 77390949 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP T G uc004ajl.1 TRPM6_uc004ajk.... Hybrid_Cap... view
TRPM6 9 77397587 77397587 SUPHD1_HAEMATOP... 37 Intron SNP A T uc004ajl.1 TRPM6_uc004ajk.... Hybrid_Cap... view
TRRAP p.R90Q 7 98490054 98490054 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc003upp.2 TRRAP_uc011kis.... Hybrid_Cap... view
TTBK1 p.E771del 6 43250726 43250728 SUPHD1_HAEMATOP... 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
TTN 2 179391639 179391640 SUPHD1_HAEMATOP... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.G25718E 2 179426002 179426002 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.S25159L 2 179427679 179427679 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.A17589T 2 179455983 179455983 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.G17548E 2 179456105 179456105 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.D13432H 2 179481618 179481618 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.A11388T 2 179500185 179500185 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VDAC1 p.R218C 5 133311612 133311612 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc003kyp.1 VDAC1_uc003kyq.... Hybrid_Cap... view
VPS13B p.E1376K 8 100515147 100515147 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP G A uc003yiv.2 VPS13B_uc003yiw... Hybrid_Cap... view
WEE1 p.Y295H 11 9598070 9598070 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP T C uc001mhs.2 WEE1_uc001mht.2... Hybrid_Cap... view
WEE1 p.L302I 11 9598091 9598091 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C A uc001mhs.2 WEE1_uc001mht.2... Hybrid_Cap... view
WNK3 p.K111R X 54359775 54359775 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP T C uc004dtc.1 WNK3_uc004dtd.1... Hybrid_Cap... view
XPA 9 100437633 100437634 SUPHD1_HAEMATOP... 37 3'UTR Ins - T uc004axr.3 XPA_uc004axs.3_... Hybrid_Cap...
YWHAQ 2 9770589 9770590 SUPHD1_HAEMATOP... 37 5'UTR Ins - CGGGGC uc002qzw.2 YWHAQ_uc002qzx.... Hybrid_Cap...
ZNF217 p.S923I 20 52192535 52192535 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C A uc002xwq.3 ZNF217_uc010gij... Hybrid_Cap... view
ZNF217 p.A184fs 20 52198814 52198814 SUPHD1_HAEMATOP... 37 Frame_Shift_Del Del G - uc002xwq.3 ZNF217_uc010gij... Hybrid_Cap...
ZNF384 p.Q498H 12 6777120 6777120 SUPHD1_HAEMATOP... 37 Missense_Mutation SNP C G uc010sfh.1 ZNF384_uc001qpz... Hybrid_Cap... view