Annotation Summary for Cell Line: KCL-22  

Cell line primary name: KCL-22
Cell line aliases:
Gender: F
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: haematopoietic_neoplasm
Hist Subtype1: blast_phase_chronic_myeloid_leukaemia
Notes:
Source: DSMZ
Expression arrays: WATCH_p_NCLE_RNA8_HG-U133_Plus_2_D07_474672
SNP arrays: CHARY_p_NCLE_DNAAffy9_GenomeWideSNP_6_G12_490398
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in KCL-22

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 KCL22_HAEMATOPO... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
AATK p.Y1178* 17 79094202 79094202 KCL22_HAEMATOPO... 37 Nonsense_Mutation SNP G T uc010dia.2 AATK_uc010dhz.2... Hybrid_Cap... view
ABCA3 p.M1479V 16 2329056 2329056 KCL22_HAEMATOPO... 37 Missense_Mutation SNP T C uc002cpy.1 ABCA3_uc010bsk.... Hybrid_Cap... view
ABCA3 p.V1394L 16 2331207 2331207 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C G uc002cpy.1 ABCA3_uc010bsk.... Hybrid_Cap... view
ABCC3 17 48740882 48740882 KCL22_HAEMATOPO... 37 Intron SNP C T uc002isl.2 ABCC3_uc002isk.... Hybrid_Cap... view
ABCC3 p.I1468T 17 48765019 48765019 KCL22_HAEMATOPO... 37 Missense_Mutation SNP T C uc002isl.2 ABCC3_uc002isn.... Hybrid_Cap... view
ABL1 p.E810G 9 133760049 133760049 KCL22_HAEMATOPO... 37 Missense_Mutation SNP A G uc004bzv.2 ABL1_uc004bzw.2... Hybrid_Cap... view
ACOXL p.V446M 2 111789258 111789258 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc010yxk.1 ACOXL_uc010fkc.... Hybrid_Cap... view
ADAM12 p.R824L 10 127724782 127724782 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C A uc001ljk.2 ADAM12_uc010qul... Hybrid_Cap... view
ADAM28 8 24211994 24211997 KCL22_HAEMATOPO... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTS18 p.F695fs 16 77356311 77356311 KCL22_HAEMATOPO... 37 Frame_Shift_Del Del A - uc002ffc.3 ADAMTS18_uc010c... Hybrid_Cap...
ADK 10 76468205 76468205 KCL22_HAEMATOPO... 37 3'UTR SNP G T uc001jwi.2 ADK_uc010qlb.1_... Hybrid_Cap... view
ADRBK1 p.E420K 11 67050629 67050629 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc009yrn.1 ADRBK1_uc009yrm... Hybrid_Cap... view
ADRBK2 22 25960983 25960983 KCL22_HAEMATOPO... 37 5'UTR SNP G A uc003abx.3 ADRBK2_uc010gux... Hybrid_Cap... view
ADRBK2 22 25960986 25960986 KCL22_HAEMATOPO... 37 5'UTR SNP G C uc003abx.3 ADRBK2_uc010gux... Hybrid_Cap... view
AFF3 2 100623013 100623013 KCL22_HAEMATOPO... 37 Intron SNP A G uc002taf.2 AFF3_uc002tag.2... Hybrid_Cap... view
AFF4 p.Q558* 5 132232650 132232650 KCL22_HAEMATOPO... 37 Nonsense_Mutation SNP G A uc003kyd.2 AFF4_uc011cxk.1... Hybrid_Cap... view
AGAP2 p.K390N 12 58129209 58129209 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C G uc001spq.2 AGAP2_uc001spp.... Hybrid_Cap... view
AGAP2 p.A302P 12 58131126 58131126 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C G uc001spq.2 AGAP2_uc001spp.... Hybrid_Cap... view
APAF1 p.G552E 12 99065359 99065359 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc001tfz.2 APAF1_uc001tfy.... Hybrid_Cap... view
ARHGAP29 p.N363fs 1 94668155 94668155 KCL22_HAEMATOPO... 37 Frame_Shift_Del Del T - uc001dqj.3 ARHGAP29_uc009w... Hybrid_Cap...
ARID1A p.H1624H 1 27101590 27101590 KCL22_HAEMATOPO... 37 Silent SNP C T uc001bmv.1 ARID1A_uc001bmt... Hybrid_Cap... view
ASPSCR1 p.A580V 17 79974727 79974727 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc002kcy.2 ASPSCR1_uc002kc... Hybrid_Cap... view
ATP13A5 p.Y456* 3 193049005 193049005 KCL22_HAEMATOPO... 37 Nonsense_Mutation SNP A C uc011bsq.1 Hybrid_Cap... view
AURKC 19 57742494 57742507 KCL22_HAEMATOPO... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
AXIN1 p.D495N 16 348023 348023 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc002cgp.1 AXIN1_uc002cgq.... Hybrid_Cap... view
BAI3 p.M595I 6 69703710 69703710 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BCL11B p.G416V 14 99641926 99641926 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C A uc001yga.2 BCL11B_uc001ygb... Hybrid_Cap... view
BCL3 19 45262920 45262920 KCL22_HAEMATOPO... 37 3'UTR SNP C A uc010xxe.1 Hybrid_Cap... view
BCL3 19 45262931 45262931 KCL22_HAEMATOPO... 37 3'UTR SNP C T uc010xxe.1 Hybrid_Cap... view
BCL9 1 147096827 147096828 KCL22_HAEMATOPO... 37 3'UTR DNP GC TG rs946902 uc001epq.2 Hybrid_Cap...
BMP4 p.L199P 14 54417381 54417381 KCL22_HAEMATOPO... 37 Missense_Mutation SNP A G uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap... view
BRCA1 p.A1502V 17 41228547 41228547 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc002ict.2 BRCA1_uc010whp.... Hybrid_Cap... view
BRCA2 p.E1285fs 13 32912345 32912346 KCL22_HAEMATOPO... 37 Frame_Shift_Ins Ins - A rs80359407 uc001uub.1 Hybrid_Cap...
CACNB2 p.T377A 10 18823079 18823079 KCL22_HAEMATOPO... 37 Missense_Mutation SNP A G uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap... view
CACNB2 10 18828721 18828722 KCL22_HAEMATOPO... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAD p.R831C 2 27454938 27454938 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc002rji.2 CAD_uc010eyw.2_... Hybrid_Cap... view
CAMK1 p.L362L 3 9799250 9799250 KCL22_HAEMATOPO... 37 Silent SNP C A uc003bst.2 OGG1_uc003bsk.2... Hybrid_Cap... view
CAMK2G p.A153T 10 75608807 75608807 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc001jvv.1 CAMK2G_uc001jvm... Hybrid_Cap... view
CAMK4 p.A73V 5 110679778 110679778 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc011cvj.1 CAMK4_uc003kpf.... Hybrid_Cap... view
CAMKK2 12 121681885 121681885 KCL22_HAEMATOPO... 37 Intron SNP C T uc001tzu.2 CAMKK2_uc001tzt... Hybrid_Cap... view
CARD10 p.KE272del 22 37906309 37906314 KCL22_HAEMATOPO... 37 In_Frame_Del Del CTCCT... - uc003asx.1 CARD10_uc003ast... Hybrid_Cap...
CARD14 p.R7S 17 78155258 78155258 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G C uc002jxw.1 CARD14_uc002jxt... Hybrid_Cap... view
CASC5 p.F1921L 15 40933110 40933110 KCL22_HAEMATOPO... 37 Missense_Mutation SNP T C uc010bbs.1 CASC5_uc010bbt.... Hybrid_Cap... view
CASP4 p.M57I 11 104825565 104825565 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C A uc001pid.1 CASP4_uc001pib.... Hybrid_Cap... view
CBFA2T3 p.R343C 16 88951544 88951544 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc002fmm.1 CBFA2T3_uc002fm... Hybrid_Cap... view
CBFA2T3 p.Q267E 16 88952463 88952463 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G C rs76244575 uc002fmm.1 CBFA2T3_uc002fm... Hybrid_Cap... view
CCL3 17 34415924 34415924 KCL22_HAEMATOPO... 37 3'UTR SNP C T uc002hkv.2 Hybrid_Cap... view
CDC25C p.P247P 5 137655016 137655016 KCL22_HAEMATOPO... 37 Silent SNP G T uc003lcs.1 CDC25C_uc003lcp... Hybrid_Cap... view
CDH1 16 68867511 68867511 KCL22_HAEMATOPO... 37 3'UTR SNP A G uc002ewg.1 CDH1_uc010vlj.1... Hybrid_Cap... view
CDH1 p.P170L 16 68842448 68842448 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc002ewg.1 CDH1_uc010vlj.1... Hybrid_Cap... view
CDH2 p.S563T 18 25568542 25568542 KCL22_HAEMATOPO... 37 Missense_Mutation SNP A T uc002kwg.2 CDH2_uc010xbn.1... Hybrid_Cap... view
CDKL2 p.K74fs 4 76539580 76539580 KCL22_HAEMATOPO... 37 Frame_Shift_Del Del T - uc011cbp.1 CDKL2_uc003hiq.... Hybrid_Cap...
CEP110 p.M397I 9 123875848 123875848 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc004bkx.1 CEP110_uc004bkw... Hybrid_Cap... view
CHD5 p.I868N 1 6196670 6196670 KCL22_HAEMATOPO... 37 Missense_Mutation SNP A T uc001amb.1 CHD5_uc001ama.1... Hybrid_Cap... view
CHD5 p.W841R 1 6196841 6196841 KCL22_HAEMATOPO... 37 Missense_Mutation SNP A G uc001amb.1 CHD5_uc001ama.1... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 KCL22_HAEMATOPO... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
COL18A1 p.R1631L 21 46930138 46930138 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G T uc011afs.1 COL18A1_uc002zh... Hybrid_Cap... view
CREB1 p.R95fs 2 208425864 208425865 KCL22_HAEMATOPO... 37 Frame_Shift_Del Del AG - uc002vcc.2 CREB1_uc010ziz.... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 KCL22_HAEMATOPO... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CREBBP p.Q2045* 16 3778915 3778915 KCL22_HAEMATOPO... 37 Nonsense_Mutation SNP G A uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CSMD3 p.Y1405N 8 113569013 113569013 KCL22_HAEMATOPO... 37 Missense_Mutation SNP A T uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSNK1D p.H126Y 17 80211081 80211081 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc002kef.2 SLC16A3_uc002ke... Hybrid_Cap... view
CSNK1D 17 80202547 80202547 KCL22_HAEMATOPO... 37 Intron SNP C T uc002kef.2 SLC16A3_uc002ke... Hybrid_Cap... view
CYP2B6 p.D342N 19 41518262 41518262 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc002opr.1 CYP2A7_uc002opo... Hybrid_Cap... view
DAPK1 p.Q6H 9 90114010 90114010 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G T uc004apc.2 DAPK1_uc004ape.... Hybrid_Cap... view
DCLK2 p.R609Q 4 151161625 151161625 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc003ilo.3 DCLK2_uc003ilm.... Hybrid_Cap... view
DDB2 p.Q61* 11 47237940 47237940 KCL22_HAEMATOPO... 37 Nonsense_Mutation SNP C T uc001neb.2 DDB2_uc001nec.2... Hybrid_Cap... view
DICER1 p.I582V 14 95582798 95582798 KCL22_HAEMATOPO... 37 Missense_Mutation SNP T C uc001ydw.2 DICER1_uc001ydv... Hybrid_Cap... view
DIP2C p.R514W 10 435988 435988 KCL22_HAEMATOPO... 37 Missense_Mutation SNP T A uc001ifp.2 DIP2C_uc009xhj.... Hybrid_Cap... view
DLC1 8 13072120 13072120 KCL22_HAEMATOPO... 37 Intron SNP C A uc003wwm.2 DLC1_uc003wwl.1... Hybrid_Cap... view
DMPK 19 46273568 46273568 KCL22_HAEMATOPO... 37 3'UTR SNP G A uc002pdi.1 SIX5_uc002pdb.2... Hybrid_Cap... view
DOCK3 p.T1850fs 3 51417604 51417604 KCL22_HAEMATOPO... 37 Frame_Shift_Del Del C - uc011bds.1 Hybrid_Cap...
DST p.P5504S 6 56328383 56328383 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST 6 56507651 56507651 KCL22_HAEMATOPO... 37 Intron SNP G A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DVL1 p.R559R 1 1271858 1271858 KCL22_HAEMATOPO... 37 Silent SNP C A uc001aer.3 DVL1_uc002quu.2... Hybrid_Cap... view
E2F1 p.R127H 20 32267753 32267753 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc002wzu.3 Hybrid_Cap... view
EEF1D 8 144661899 144661899 KCL22_HAEMATOPO... 37 3'UTR SNP C T uc003yyq.1 NAPRT1_uc003yym... Hybrid_Cap... view
EEF1D p.A423S 8 144668997 144668997 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C A uc003yyq.1 EEF1D_uc003yyp.... Hybrid_Cap... view
EEF2K p.Q344_splice 16 22269814 22269814 KCL22_HAEMATOPO... 37 Splice_Site_SNP SNP G A uc002dki.2 EEF2K_uc002dkh.... Hybrid_Cap... view
EGF p.E1134fs 4 110932389 110932390 KCL22_HAEMATOPO... 37 Frame_Shift_Ins Ins - C rs11569144 uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap...
EIF2AK4 p.R1549H 15 40322644 40322644 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc001zkm.1 EIF2AK4_uc010bb... Hybrid_Cap... view
EPHA6 3 97367230 97367231 KCL22_HAEMATOPO... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ETV1 7 14028708 14028708 KCL22_HAEMATOPO... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FANCD2 p.P672L 3 10106107 10106107 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc003buw.2 FANCD2_uc003bux... Hybrid_Cap... view
FANCD2 p.V725A 3 10107083 10107083 KCL22_HAEMATOPO... 37 Missense_Mutation SNP T C uc003buw.2 FANCD2_uc003bux... Hybrid_Cap... view
FASN p.K1787fs 17 80041282 80041283 KCL22_HAEMATOPO... 37 Frame_Shift_Ins Ins - T uc002kdu.2 FASN_uc002kdv.1... Hybrid_Cap...
FBN1 p.T1321I 15 48773854 48773854 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc001zwx.1 Hybrid_Cap... view
FBN2 p.P2085fs 5 127627259 127627259 KCL22_HAEMATOPO... 37 Frame_Shift_Del Del G - uc003kuu.2 Hybrid_Cap...
FBN2 p.P2045fs 5 127636541 127636541 KCL22_HAEMATOPO... 37 Frame_Shift_Del Del G - uc003kuu.2 Hybrid_Cap...
FBXW7 4 153273672 153273672 KCL22_HAEMATOPO... 37 Intron SNP T C uc003ims.2 FBXW7_uc011cii.... Hybrid_Cap... view
FGFR3 p.V413M 4 1806212 1806212 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap... view
FGFR4 5 176520357 176520357 KCL22_HAEMATOPO... 37 Intron SNP C G uc003mfl.2 FGFR4_uc003mfm.... Hybrid_Cap... view
FGFR4 5 176520364 176520364 KCL22_HAEMATOPO... 37 Intron SNP C G uc003mfl.2 FGFR4_uc003mfm.... Hybrid_Cap... view
FIP1L1 p.R489C 4 54319266 54319266 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc003gzy.2 PDGFRA_uc003haa... Hybrid_Cap... view
FKBP1A 20 1352729 1352729 KCL22_HAEMATOPO... 37 3'UTR SNP G T uc002wey.2 FKBP1A_uc010gac... Hybrid_Cap... view
FLCN p.S87L 17 17129626 17129626 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc002gra.3 PLD6_uc010cpn.2... Hybrid_Cap... view
FLNA p.R1959C X 153581811 153581811 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A rs10458342 uc004fkk.2 FLNA_uc004fki.2... Hybrid_Cap... view
FLNA p.S1921G X 153582021 153582021 KCL22_HAEMATOPO... 37 Missense_Mutation SNP T C uc004fkk.2 FLNA_uc004fki.2... Hybrid_Cap... view
FLNA p.E1903K X 153582075 153582075 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc004fkk.2 FLNA_uc004fki.2... Hybrid_Cap... view
FLNA p.K1590K X 153585977 153585977 KCL22_HAEMATOPO... 37 Silent SNP C T uc004fkk.2 FLNA_uc011mzn.1... Hybrid_Cap... view
FLNA p.N931D X 153590382 153590382 KCL22_HAEMATOPO... 37 Missense_Mutation SNP T C uc004fkk.2 FLNA_uc010nuu.1... Hybrid_Cap... view
FN1 2 216244182 216244185 KCL22_HAEMATOPO... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FRK p.S347P 6 116265508 116265508 KCL22_HAEMATOPO... 37 Missense_Mutation SNP A G uc003pwi.1 Hybrid_Cap... view
FSCB p.17_18MA>IS 14 44976139 44976140 KCL22_HAEMATOPO... 37 Missense_Mutation DNP CC AA uc001wvn.2 Hybrid_Cap...
FURIN p.S679N 15 91424759 91424759 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc002bpu.1 FES_uc010uqj.1_... Hybrid_Cap... view
FZD1 p.93_94insP 7 90894459 90894460 KCL22_HAEMATOPO... 37 In_Frame_Ins Ins - CCG uc003ula.2 Hybrid_Cap...
GH1 p.V211L 17 61994692 61994692 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C A uc002jdj.2 GH1_uc002jdi.2_... Hybrid_Cap... view
GLTSCR1 p.G1225D 19 48204663 48204663 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc002phh.3 GLTSCR1_uc002ph... Hybrid_Cap... view
GLYAT 11 58478035 58478035 KCL22_HAEMATOPO... 37 Intron SNP G A uc001nnb.2 GLYAT_uc001nnc.... Hybrid_Cap... view
GOLGA5 p.L556F 14 93290938 93290938 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G C uc001yaz.1 Hybrid_Cap... view
GOPC 6 117923457 117923457 KCL22_HAEMATOPO... 37 5'UTR SNP C A uc003pxu.2 GOPC_uc003pxv.2... Hybrid_Cap... view
GPHN p.R28G 14 67147842 67147842 KCL22_HAEMATOPO... 37 Missense_Mutation SNP A G uc010tss.1 GPHN_uc001xiw.2... Hybrid_Cap... view
GPR112 p.A115V X 135405210 135405210 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 KCL22_HAEMATOPO... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 KCL22_HAEMATOPO... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIA3 p.L652F X 122561868 122561868 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap... view
GRIK1 21 30909456 30909456 KCL22_HAEMATOPO... 37 3'UTR SNP G A uc011acs.1 GRIK1_uc002ynn.... Hybrid_Cap... view
GRK4 p.E339K 4 3029683 3029683 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc003ggn.1 GRK4_uc003ggo.1... Hybrid_Cap... view
GTSE1 22 46722679 46722679 KCL22_HAEMATOPO... 37 Intron Del T - uc011aqy.1 GTSE1_uc011aqz.... Hybrid_Cap...
GTSE1 p.R603H 22 46724668 46724668 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc011aqy.1 GTSE1_uc011aqz.... Hybrid_Cap... view
GTSE1 p.D671N 22 46725339 46725339 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc011aqy.1 GTSE1_uc011aqz.... Hybrid_Cap... view
GUCY2C 12 14827464 14827466 KCL22_HAEMATOPO... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HAPLN1 5 82937252 82937252 KCL22_HAEMATOPO... 37 3'UTR Del A - uc003kim.2 HAPLN1_uc003kin... Hybrid_Cap...
HAPLN1 p.L5P 5 82969329 82969329 KCL22_HAEMATOPO... 37 Missense_Mutation SNP A G uc003kim.2 HAPLN1_uc003kin... Hybrid_Cap... view
HDAC2 p.K105fs 6 114292040 114292040 KCL22_HAEMATOPO... 37 Frame_Shift_Del Del T - uc003pwd.1 HDAC2_uc003pwc.... Hybrid_Cap...
HDAC6 p.A234T X 48666507 48666507 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc011mmi.1 HDAC6_uc004dks.... Hybrid_Cap... view
HDAC8 X 71684379 71684379 KCL22_HAEMATOPO... 37 Intron SNP C T uc004eau.2 HDAC8_uc011mqe.... Hybrid_Cap... view
HEPH p.P160fs X 65393489 65393489 KCL22_HAEMATOPO... 37 Frame_Shift_Del Del G - uc011moz.1 HEPH_uc004dwn.2... Hybrid_Cap...
HERC2 p.R4770M 15 28357105 28357105 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C A uc001zbj.2 HERC2_uc001zbi.... Hybrid_Cap... view
HGF 7 81381414 81381414 KCL22_HAEMATOPO... 37 Intron SNP C T uc003uhl.2 HGF_uc003uhm.2_... Hybrid_Cap... view
HIPK1 p.Q891* 1 114511170 114511170 KCL22_HAEMATOPO... 37 Nonsense_Mutation SNP C T uc001eem.2 HIPK1_uc001eel.... Hybrid_Cap... view
HMMR p.K665fs 5 162917426 162917426 KCL22_HAEMATOPO... 37 Frame_Shift_Del Del A - uc003lzh.2 HMMR_uc003lzf.2... Hybrid_Cap...
HNF1A 12 121434630 121434631 KCL22_HAEMATOPO... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HNF1B p.P60A 17 36104698 36104698 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G C uc002hok.3 HNF1B_uc010wdi.... Hybrid_Cap... view
HNF1B p.P50L 17 36104727 36104727 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc002hok.3 HNF1B_uc010wdi.... Hybrid_Cap... view
HOXD11 2 176973999 176973999 KCL22_HAEMATOPO... 37 3'UTR SNP C A uc002uki.2 HOXD11_uc010fqx... Hybrid_Cap... view
HSF1 p.D30E 8 145515529 145515529 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C A uc003zbt.3 BOP1_uc003zbr.1... Hybrid_Cap... view
HSP90B1 p.E791del 12 104341188 104341190 KCL22_HAEMATOPO... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
HSPA4 p.K481R 5 132426948 132426948 KCL22_HAEMATOPO... 37 Missense_Mutation SNP A G uc003kyj.2 Hybrid_Cap... view
IGF1R 15 99460135 99460135 KCL22_HAEMATOPO... 37 Intron SNP C T uc002bul.2 IGF1R_uc010urq.... Hybrid_Cap... view
IKZF3 p.S391N 17 37922401 37922401 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc002hsu.2 IKZF3_uc002htd.... Hybrid_Cap... view
ILK 11 6630029 6630029 KCL22_HAEMATOPO... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ING1 13 111367771 111367771 KCL22_HAEMATOPO... 37 5'UTR Del C - uc001vri.2 CARS2_uc010tjm.... Hybrid_Cap...
IRAK1 p.LG493del X 153279549 153279554 KCL22_HAEMATOPO... 37 In_Frame_Del Del GGCCC... - uc004fjs.1 IRAK1_uc004fjr.... Hybrid_Cap...
IRAK2 3 10206638 10206638 KCL22_HAEMATOPO... 37 5'UTR SNP C A uc003bve.1 Hybrid_Cap... view
IRF4 6 397057 397057 KCL22_HAEMATOPO... 37 Intron SNP C G uc003msz.3 IRF4_uc010jne.1... Hybrid_Cap... view
ITGA7 p.R291H 12 56092632 56092632 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc001shh.2 ITGA7_uc001shg.... Hybrid_Cap... view
ITGB4 17 73753723 73753723 KCL22_HAEMATOPO... 37 3'UTR Del C - uc002jpg.2 ITGB4_uc002jph.... Hybrid_Cap...
ITPR1 p.C1961Y 3 4816972 4816972 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc003bqa.2 ITPR1_uc010hca.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 KCL22_HAEMATOPO... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAG2 p.S1040N 14 105609941 105609941 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc001yqg.2 JAG2_uc010axf.2... Hybrid_Cap... view
JAK3 p.L1017M 19 17941359 17941359 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G T uc002nhn.3 JAK3_uc010ebh.2... Hybrid_Cap... view
KALRN p.V2205F 3 124385943 124385943 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G T uc003ehg.2 KALRN_uc003ehi.... Hybrid_Cap... view
KALRN p.S2253F 3 124390564 124390564 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc003ehg.2 KALRN_uc003ehi.... Hybrid_Cap... view
KCNH2 p.S855N 7 150645972 150645972 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc003wic.2 KCNH2_uc003wib.... Hybrid_Cap... view
KIAA2022 p.Q954E X 73961532 73961532 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G C uc004eby.2 Hybrid_Cap... view
KLK7 19 51480672 51480675 KCL22_HAEMATOPO... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KSR2 p.T496A 12 117977638 117977638 KCL22_HAEMATOPO... 37 Missense_Mutation SNP T C uc001two.2 Hybrid_Cap... view
LAMA1 p.Q1021H 18 7015784 7015784 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C A uc002knm.2 LAMA1_uc010wzj.... Hybrid_Cap... view
LDLR p.K617E 19 11230771 11230771 KCL22_HAEMATOPO... 37 Missense_Mutation SNP A G uc002mqk.3 LDLR_uc010xlk.1... Hybrid_Cap... view
LMO2 p.K77R 11 33890910 33890910 KCL22_HAEMATOPO... 37 Missense_Mutation SNP T C uc010rem.1 LMO2_uc001mvd.2... Hybrid_Cap... view
LRRK1 p.R783S 15 101566284 101566284 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C A uc002bwr.2 LRRK1_uc010usb.... Hybrid_Cap... view
LRRK1 p.E1722K 15 101605806 101605806 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc002bwr.2 LRRK1_uc010usb.... Hybrid_Cap... view
LRRK2 p.L1136P 12 40692970 40692970 KCL22_HAEMATOPO... 37 Missense_Mutation SNP T C uc001rmg.3 LRRK2_uc001rmh.... Hybrid_Cap... view
MAMDC4 p.A92A 9 139747858 139747858 KCL22_HAEMATOPO... 37 Silent SNP C T uc004cjs.2 MAMDC4_uc011mej... Hybrid_Cap... view
MAMDC4 p.Q1018E 9 139753552 139753552 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C G uc004cjs.2 MAMDC4_uc011mej... Hybrid_Cap... view
MAML1 p.Q925* 5 179201600 179201600 KCL22_HAEMATOPO... 37 Nonsense_Mutation SNP C T uc003mkm.2 MAML1_uc003mkn.... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 KCL22_HAEMATOPO... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAML3 p.Q558* 4 140810906 140810906 KCL22_HAEMATOPO... 37 Nonsense_Mutation SNP G A uc003ihz.1 MAML3_uc011chd.... Hybrid_Cap... view
MAP2K6 17 67516341 67516341 KCL22_HAEMATOPO... 37 Intron Del T - uc002jij.2 MAP2K6_uc002jii... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 KCL22_HAEMATOPO... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K12 p.R111* 12 53880845 53880845 KCL22_HAEMATOPO... 37 Nonsense_Mutation SNP G A uc001sdn.1 MAP3K12_uc001sd... Hybrid_Cap... view
MAP3K14 p.R218_splice 17 43364293 43364294 KCL22_HAEMATOPO... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K14 p.R946M 17 43342010 43342010 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C A uc002iiw.1 LOC100133991_uc... Hybrid_Cap... view
MAP3K2 p.G292fs 2 128079791 128079791 KCL22_HAEMATOPO... 37 Frame_Shift_Del Del C - uc002toj.1 Hybrid_Cap...
MAP3K7 6 91246134 91246134 KCL22_HAEMATOPO... 37 Intron Del A - uc003pnz.1 MAP3K7_uc003pny... Hybrid_Cap...
MAP4K2 p.R317Q 11 64567121 64567121 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc001obh.2 MAP4K2_uc001obi... Hybrid_Cap... view
MAPK12 p.V212M 22 50694296 50694297 KCL22_HAEMATOPO... 37 Missense_Mutation DNP CA TG rs1129880 uc003bkm.1 MAPK12_uc003bkn... Hybrid_Cap...
MAPK6 p.D75N 15 52338880 52338880 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc002abp.2 Hybrid_Cap... view
MAPKBP1 p.G196C 15 42104801 42104801 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G T uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap... view
MARK2 p.A524V 11 63671514 63671514 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc001nxw.2 MARK2_uc001nxx.... Hybrid_Cap... view
MAST1 p.R444W 19 12969517 12969517 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc002mvm.2 MAST1_uc002mvk.... Hybrid_Cap... view
MAST2 p.A1734T 1 46501541 46501541 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc001cov.2 MAST2_uc001cow.... Hybrid_Cap... view
MATK 19 3785198 3785198 KCL22_HAEMATOPO... 37 Intron SNP C G uc002lyv.2 MATK_uc002lyt.2... Hybrid_Cap... view
MAX p.A30T 14 65560509 65560509 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc001xif.1 MAX_uc001xic.1_... Hybrid_Cap... view
MCF2 X 138724842 138724842 KCL22_HAEMATOPO... 37 Intron Del A - uc011mwo.1 MCF2_uc004fau.2... Hybrid_Cap...
MCM3AP p.V723M 21 47693331 47693331 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc002zir.1 Hybrid_Cap... view
MED13L p.R534K 12 116446617 116446617 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc001tvw.2 Hybrid_Cap... view
MEN1 p.W428* 11 64572588 64572588 KCL22_HAEMATOPO... 37 Nonsense_Mutation SNP C T uc001obj.2 MAP4K2_uc001obh... Hybrid_Cap... view
MLH1 p.L259S 3 37056021 37056021 KCL22_HAEMATOPO... 37 Missense_Mutation SNP T C rs56250509 uc003cgl.2 MLH1_uc011aye.1... Hybrid_Cap... view
MLLT3 9 20346394 20346395 KCL22_HAEMATOPO... 37 3'UTR Del AA - uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap...
MSH6 p.T1085fs 2 48030639 48030640 KCL22_HAEMATOPO... 37 Frame_Shift_Ins Ins - C rs63750431 uc002rwd.3 MSH6_uc010fbj.2... Hybrid_Cap...
MSI2 p.P245S 17 55729465 55729465 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc002iuz.1 MSI2_uc010wnm.1... Hybrid_Cap... view
MSI2 p.A253V 17 55729490 55729490 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc002iuz.1 MSI2_uc010wnm.1... Hybrid_Cap... view
MST1R p.M1196I 3 49928686 49928686 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C G uc003cxy.3 MST1R_uc011bdc.... Hybrid_Cap... view
MST4 X 131208262 131208262 KCL22_HAEMATOPO... 37 3'UTR SNP T C uc011mux.1 MST4_uc004ewk.1... Hybrid_Cap... view
MTMR11 p.L293F 1 149905407 149905407 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc001etl.3 MTMR11_uc001etm... Hybrid_Cap... view
MTOR p.P1254T 1 11269410 11269410 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G T uc001asd.2 Hybrid_Cap... view
MTOR p.M825I 1 11292532 11292532 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc001asd.2 Hybrid_Cap... view
MTOR p.S275T 1 11313912 11313912 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C G uc001asd.2 Hybrid_Cap... view
MTOR 1 11319476 11319476 KCL22_HAEMATOPO... 37 5'UTR SNP A T uc001asd.2 Hybrid_Cap... view
MUTYH p.I537L 1 45795019 45795019 KCL22_HAEMATOPO... 37 Missense_Mutation SNP T G uc009vxp.2 MUTYH_uc009vxn.... Hybrid_Cap... view
MYCN p.V408M 2 16086046 16086046 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc002rci.2 MYCN_uc010yjr.1... Hybrid_Cap... view
MYH9 p.G736R 22 36701102 36701102 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc003apg.2 MYH9_uc003aph.1... Hybrid_Cap... view
MYLK p.E1066del 3 123419117 123419119 KCL22_HAEMATOPO... 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
MYLK3 p.D435H 16 46766279 46766279 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C G uc002eei.3 MYLK3_uc010vge.... Hybrid_Cap... view
NACA p.V1642E 12 57110389 57110389 KCL22_HAEMATOPO... 37 Missense_Mutation SNP A T uc009zoy.1 NACA_uc001slz.2... Hybrid_Cap... view
NACA p.P1628S 12 57110432 57110432 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc009zoy.1 NACA_uc001slz.2... Hybrid_Cap... view
NACA p.P1499T 12 57110819 57110820 KCL22_HAEMATOPO... 37 Missense_Mutation DNP GG TT uc009zoy.1 NACA_uc001slz.2... Hybrid_Cap...
NACA p.P1029S 12 57112229 57112229 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc009zoy.1 NACA_uc001slz.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 KCL22_HAEMATOPO... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 KCL22_HAEMATOPO... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 p.R358L 11 113103000 113103000 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G T uc009yyq.1 Hybrid_Cap... view
NDE1 16 15818452 15818452 KCL22_HAEMATOPO... 37 3'UTR SNP C T uc010uzy.1 MYH11_uc002ddv.... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 KCL22_HAEMATOPO... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NIN p.T1465I 14 51223354 51223354 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc001wyi.2 NIN_uc001wyj.2_... Hybrid_Cap... view
NIN p.T353A 14 51238111 51238111 KCL22_HAEMATOPO... 37 Missense_Mutation SNP T C uc001wyi.2 NIN_uc001wyj.2_... Hybrid_Cap... view
NIN 14 51290059 51290059 KCL22_HAEMATOPO... 37 Intron Del A - uc001wyi.2 NIN_uc001wyj.2_... Hybrid_Cap...
NLK p.A79D 17 26370135 26370135 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C A uc010crj.2 NLK_uc010cri.1_... Hybrid_Cap... view
NLRP1 17 5404956 5404956 KCL22_HAEMATOPO... 37 3'UTR SNP C A uc002gcg.1 LOC728392_uc010... Hybrid_Cap... view
NOS2 p.E285K 17 26108073 26108073 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc002gzu.2 NOS2_uc010crh.1... Hybrid_Cap... view
NOS3 p.Q294* 7 150696097 150696097 KCL22_HAEMATOPO... 37 Nonsense_Mutation SNP C T uc003wif.2 NOS3_uc011kuy.1... Hybrid_Cap... view
NPR1 p.D274N 1 153653075 153653075 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap... view
NPR1 1 153665919 153665920 KCL22_HAEMATOPO... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 KCL22_HAEMATOPO... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H3 11 47290275 47290275 KCL22_HAEMATOPO... 37 3'UTR SNP C A rs1050952 uc001nel.2 MADD_uc001neq.2... Hybrid_Cap... view
NR3C1 p.V522I 5 142680236 142680236 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc003lmy.2 NR3C1_uc003lmz.... Hybrid_Cap... view
NR4A3 p.H119del 9 102590616 102590618 KCL22_HAEMATOPO... 37 In_Frame_Del Del CAC - uc004bai.2 NR4A3_uc004bae.... Hybrid_Cap...
NUDT10 p.G50fs X 51075965 51075965 KCL22_HAEMATOPO... 37 Frame_Shift_Del Del G - uc004dph.2 NUDT10_uc004dpi... Hybrid_Cap...
NUP153 p.V1091L 6 17629252 17629252 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C A uc011dje.1 NUP153_uc003ncd... Hybrid_Cap... view
NUP214 p.E225fs 9 134007993 134007993 KCL22_HAEMATOPO... 37 Frame_Shift_Del Del A - uc004cag.2 NUP214_uc004cah... Hybrid_Cap...
NUP98 p.N1311fs 11 3720389 3720389 KCL22_HAEMATOPO... 37 Frame_Shift_Del Del T - uc001lyh.2 NUP98_uc001lyi.... Hybrid_Cap...
ODZ1 p.A230V X 123870894 123870894 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc010nqy.2 ODZ1_uc011muj.1... Hybrid_Cap... view
P2RX7 p.P369L 12 121615167 121615167 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc001tzm.2 P2RX7_uc001tzn.... Hybrid_Cap... view
PAK6 p.W40* 15 40557106 40557106 KCL22_HAEMATOPO... 37 Nonsense_Mutation SNP G A uc010bbl.2 PAK6_uc010bbm.2... Hybrid_Cap... view
PAX3 2 223066017 223066018 KCL22_HAEMATOPO... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 KCL22_HAEMATOPO... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX5 9 37034086 37034086 KCL22_HAEMATOPO... 37 5'UTR Del T - uc003zzo.1 PAX5_uc011lpw.1... Hybrid_Cap...
PAX8 2 113976083 113976083 KCL22_HAEMATOPO... 37 3'UTR SNP C T uc010yxt.1 PAX8_uc010yxu.1... Hybrid_Cap... view
PCM1 8 17813218 17813218 KCL22_HAEMATOPO... 37 Intron Del T - uc003wyi.3 PCM1_uc011kyh.1... Hybrid_Cap...
PDCD11 p.R661G 10 105178266 105178266 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C G uc001kwy.1 Hybrid_Cap... view
PDGFRB p.R456S 5 149509531 149509531 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C G uc003lro.2 PDGFRB_uc010jhd... Hybrid_Cap... view
PHKG1 p.P209L 7 56150988 56150988 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc011kdb.1 PSPH_uc003trj.2... Hybrid_Cap... view
PI4KB p.Q798* 1 151265423 151265423 KCL22_HAEMATOPO... 37 Nonsense_Mutation SNP G A uc001exr.2 PI4KB_uc001exs.... Hybrid_Cap... view
PIGU p.Q118R 20 33225755 33225755 KCL22_HAEMATOPO... 37 Missense_Mutation SNP T C uc002xas.2 PIGU_uc010zul.1... Hybrid_Cap... view
PIK3C2B p.Q921H 1 204413468 204413468 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C A uc001haw.2 PIK3C2B_uc010pq... Hybrid_Cap... view
PIK3CA p.E545G 3 178936092 178936092 KCL22_HAEMATOPO... 37 Missense_Mutation SNP A G uc003fjk.2 Hybrid_Cap... view
PIK3CD p.M786I 1 9782353 9782353 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G T uc001aqe.3 PIK3CD_uc001aqb... Hybrid_Cap... view
PIM1 6 37138205 37138205 KCL22_HAEMATOPO... 37 5'UTR SNP C A uc003onk.2 PIM1_uc011dtw.1... Hybrid_Cap... view
PIM1 6 37141908 37141908 KCL22_HAEMATOPO... 37 3'UTR SNP C T uc003onk.2 PIM1_uc011dtw.1... Hybrid_Cap... view
PIM3 22 50356333 50356333 KCL22_HAEMATOPO... 37 Intron SNP T G uc003bjb.2 PIM3_uc011arj.1... Hybrid_Cap... view
PKHD1 p.N2512T 6 51732859 51732859 KCL22_HAEMATOPO... 37 Missense_Mutation SNP T G uc003pah.1 PKHD1_uc010jzn.... Hybrid_Cap... view
PKN1 p.P586P 19 14578385 14578385 KCL22_HAEMATOPO... 37 Silent SNP C A uc002myq.2 PKN1_uc002myp.2... Hybrid_Cap... view
PKN3 p.R298C 9 131475387 131475387 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc004bvw.2 PKN3_uc010myh.2... Hybrid_Cap... view
PKN3 9 131482970 131482970 KCL22_HAEMATOPO... 37 3'UTR SNP C G uc004bvw.2 PKN3_uc010myh.2... Hybrid_Cap... view
PLAT p.R62K 8 42046520 42046520 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc003xos.2 PLAT_uc010lxf.1... Hybrid_Cap... view
PLCB2 p.P841L 15 40584269 40584269 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc001zld.2 PLCB2_uc001zlc.... Hybrid_Cap... view
PLCG1 p.T61M 20 39766463 39766463 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc002xjo.1 PLCG1_uc002xjp.... Hybrid_Cap... view
PLK3 p.A448_splice 1 45270010 45270010 KCL22_HAEMATOPO... 37 Splice_Site_SNP SNP G A uc001cmn.2 PLK3_uc001cmo.2... Hybrid_Cap... view
PML p.T75M 15 74290439 74290439 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc002awv.2 PML_uc002awm.2_... Hybrid_Cap... view
PML 15 74327696 74327697 KCL22_HAEMATOPO... 37 Intron DNP GC CT uc002awv.2 PML_uc002awm.2_... Hybrid_Cap...
PPAPDC1B 8 38126529 38126529 KCL22_HAEMATOPO... 37 Intron SNP G C uc003xlf.3 PPAPDC1B_uc003x... Hybrid_Cap... view
PPP1R3A p.D312N 7 113522126 113522126 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc010ljy.1 Hybrid_Cap... view
PRAME p.C332Y 22 22891024 22891024 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc002zwf.2 LOC96610_uc011a... Hybrid_Cap... view
PRCC p.D385N 1 156761558 156761558 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc001fqa.2 PRCC_uc001fqb.2... Hybrid_Cap... view
PRKCA p.A2D 17 64298974 64298974 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C A uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap... view
PRKCH 14 61788811 61788811 KCL22_HAEMATOPO... 37 5'UTR SNP G T uc001xfn.2 PRKCH_uc010tsa.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 KCL22_HAEMATOPO... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTCH2 p.Q374* 1 45295169 45295169 KCL22_HAEMATOPO... 37 Nonsense_Mutation SNP G A uc010olf.1 PTCH2_uc010olg.... Hybrid_Cap... view
PTK6 p.R405H 20 62161031 62161031 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc002yfg.2 PTK6_uc011aay.1... Hybrid_Cap... view
PTPRD p.S890* 9 8486148 8486148 KCL22_HAEMATOPO... 37 Nonsense_Mutation SNP G T uc003zkk.2 PTPRD_uc003zkp.... Hybrid_Cap... view
RAB15 p.G125fs 14 65417741 65417741 KCL22_HAEMATOPO... 37 Frame_Shift_Del Del C - uc001xhz.2 FNTB_uc010tsl.1... Hybrid_Cap...
RAPGEF2 4 160189201 160189201 KCL22_HAEMATOPO... 37 5'UTR Del T - uc003iqg.3 Hybrid_Cap...
RARA 17 38487425 38487425 KCL22_HAEMATOPO... 37 5'UTR Del C - uc002huk.1 RARA_uc002hul.3... Hybrid_Cap...
RASA3 p.E461Q 13 114780709 114780709 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C G uc001vui.2 RASA3_uc010tkk.... Hybrid_Cap... view
RBBP8 p.A53T 18 20529585 20529585 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc002kua.2 RBBP8_uc002ktw.... Hybrid_Cap... view
RBBP8 p.S641F 18 20573793 20573793 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc002kua.2 RBBP8_uc002ktw.... Hybrid_Cap... view
RBM15 p.V459M 1 110883402 110883402 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc001dzl.1 RBM15_uc001dzm.... Hybrid_Cap... view
RCBTB2 p.H413Y 13 49075900 49075900 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc010tgg.1 RCBTB2_uc001vch... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 KCL22_HAEMATOPO... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RECQL4 p.R618W 8 145739599 145739599 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc003zdj.2 Hybrid_Cap... view
RELA 11 65423153 65423153 KCL22_HAEMATOPO... 37 Intron Del C - uc010ron.1 RELA_uc001ofg.2... Hybrid_Cap...
RGL1 p.Q679K 1 183885761 183885761 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C A uc001gqm.2 RGL1_uc010pog.1... Hybrid_Cap... view
RGL1 p.Y677* 1 183885757 183885757 KCL22_HAEMATOPO... 37 Nonsense_Mutation SNP C A uc001gqm.2 RGL1_uc010pog.1... Hybrid_Cap... view
RGL3 p.P163fs 19 11526761 11526762 KCL22_HAEMATOPO... 37 Frame_Shift_Ins Ins - G uc002mro.2 RGL3_uc002mrn.2... Hybrid_Cap...
RGL4 22 24040794 24040794 KCL22_HAEMATOPO... 37 Intron SNP A G uc002zxn.2 LOC91316_uc002z... Hybrid_Cap... view
RHPN2 p.S97S 19 33517433 33517433 KCL22_HAEMATOPO... 37 Silent SNP C T uc002nuf.2 RHPN2_uc010xro.... Hybrid_Cap... view
RIPK1 6 3077012 3077012 KCL22_HAEMATOPO... 37 5'UTR Del G - uc010jni.2 RIPK1_uc003muv.... Hybrid_Cap...
RNF130 p.A390V 5 179390546 179390546 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc003mll.1 RNF130_uc003mlm... Hybrid_Cap... view
ROBO2 3 77666937 77666937 KCL22_HAEMATOPO... 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
ROR2 p.P375fs 9 94493250 94493250 KCL22_HAEMATOPO... 37 Frame_Shift_Del Del G - uc004arj.1 ROR2_uc004ari.1... Hybrid_Cap...
RPL22 p.K15fs 1 6257785 6257785 KCL22_HAEMATOPO... 37 Frame_Shift_Del Del T - uc001amd.2 RPL22_uc001ame.... Hybrid_Cap...
RPN1 3 128339133 128339133 KCL22_HAEMATOPO... 37 3'UTR SNP G C uc003ekr.1 RPN1_uc011bkq.1... Hybrid_Cap... view
RPN1 3 128339199 128339199 KCL22_HAEMATOPO... 37 3'UTR SNP G T uc003ekr.1 RPN1_uc011bkq.1... Hybrid_Cap... view
RPS6KB2 p.S309R 11 67201486 67201486 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C A uc001old.2 RPS6KB2_uc001ol... Hybrid_Cap... view
RPS6KL1 14 75373626 75373627 KCL22_HAEMATOPO... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
RPTOR p.V476M 17 78831617 78831617 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc002jyt.1 RPTOR_uc010wuf.... Hybrid_Cap... view
RRM2 2 10269545 10269545 KCL22_HAEMATOPO... 37 3'UTR Del T - rs79162203 uc002rah.2 Hybrid_Cap...
RUNX1T1 8 93023157 93023157 KCL22_HAEMATOPO... 37 Intron SNP A T uc011lgi.1 RUNX1T1_uc003yf... Hybrid_Cap... view
SBDS 7 66453340 66453340 KCL22_HAEMATOPO... 37 3'UTR SNP T C uc003tvm.1 Hybrid_Cap... view
SCRIB p.R444H 8 144892929 144892929 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc003yzo.1 SCRIB_uc003yzp.... Hybrid_Cap... view
SCRIB p.Q264* 8 144894552 144894552 KCL22_HAEMATOPO... 37 Nonsense_Mutation SNP G A uc003yzo.1 SCRIB_uc003yzp.... Hybrid_Cap... view
SEPT5 p.206_207IR>IR 22 19708293 19708294 KCL22_HAEMATOPO... 37 Silent DNP CC AA uc002zpv.1 SEPT5_uc002zpw.... Hybrid_Cap...
SEPT9 p.K141K 17 75398487 75398487 KCL22_HAEMATOPO... 37 Silent SNP G A uc002jts.3 SEPT9_uc010wtk.... Hybrid_Cap... view
SGK1 6 134495812 134495812 KCL22_HAEMATOPO... 37 Intron Del A - uc003qeo.3 SGK1_uc011ect.1... Hybrid_Cap...
SIK3 p.I1160T 11 116719858 116719858 KCL22_HAEMATOPO... 37 Missense_Mutation SNP A G uc001ppy.2 SIK3_uc001ppz.2... Hybrid_Cap... view
SIK3 p.A809V 11 116730002 116730002 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc001ppy.2 SIK3_uc001ppz.2... Hybrid_Cap... view
SLC29A1 p.T290I 6 44198347 44198347 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc003oww.1 SLC29A1_uc003ow... Hybrid_Cap... view
SMG1 16 18820820 18820820 KCL22_HAEMATOPO... 37 3'UTR SNP A G uc002dfm.2 SMG1_uc010bwb.2... Hybrid_Cap... view
SMO p.S699S 7 128852025 128852025 KCL22_HAEMATOPO... 37 Silent SNP T C uc003vor.2 SMO_uc003vos.2_... Hybrid_Cap... view
SP110 p.V466M 2 231042924 231042924 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc002vqg.3 SP110_uc002vqh.... Hybrid_Cap... view
SPEN p.R2103fs 1 16259043 16259043 KCL22_HAEMATOPO... 37 Frame_Shift_Del Del G - uc001axk.1 SPEN_uc010obp.1... Hybrid_Cap...
SPEN p.Q2413* 1 16259972 16259972 KCL22_HAEMATOPO... 37 Nonsense_Mutation SNP C T uc001axk.1 SPEN_uc010obp.1... Hybrid_Cap... view
SPTAN1 p.A368T 9 131340405 131340405 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G A uc004bvm.3 SPTAN1_uc011mbg... Hybrid_Cap... view
SPTAN1 9 131389914 131389914 KCL22_HAEMATOPO... 37 Intron SNP G A uc004bvm.3 SPTAN1_uc004bvl... Hybrid_Cap... view
SS18 p.Q351del 18 23615012 23615014 KCL22_HAEMATOPO... 37 In_Frame_Del Del CTG - uc002kvm.2 SS18_uc002kvn.2... Hybrid_Cap...
SSX1 p.S181G X 48125796 48125796 KCL22_HAEMATOPO... 37 Missense_Mutation SNP A G uc004djb.1 Hybrid_Cap... view
STARD3 p.A338V 17 37817121 37817121 KCL22_HAEMATOPO... 37 Missense_Mutation SNP C T uc002hsd.2 STARD3_uc010weh... Hybrid_Cap... view
STAT3 p.Q736* 17 40468858 40468858 KCL22_HAEMATOPO... 37 Nonsense_Mutation SNP G A uc002hzl.1 STAT3_uc002hzk.... Hybrid_Cap... view
STAT5A p.G431C 17 40456581 40456581 KCL22_HAEMATOPO... 37 Missense_Mutation SNP G T uc002hzj.1 STAT5A_uc010cya... Hybrid_Cap... view
STK10 5 171471788 171471788 KCL22_HAEMATOPO... 37 3'UTR SNP C T uc003mbo.1 Hybrid_Cap... view
STK25 2 242435659 242435662 KCL22_HAEMATOPO... 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK32C 10 134038846 134038846 KCL22_HAEMATOPO... 37 Intron SNP C T uc010quu.1 STK32C_uc001lld... Hybrid_Cap... view
STK32C p.R228K 10 134040299 134040299