Annotation Summary for Cell Line: MEG-01  

Cell line primary name: MEG-01
Cell line aliases:
Gender: M
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: haematopoietic_neoplasm
Hist Subtype1: blast_phase_chronic_myeloid_leukaemia
Notes:
Source: ATCC
Expression arrays: MAKER_p_NCLE_RNA7_HG-U133_Plus_2_G11_454734
SNP arrays: LOBBY_p_NCLE_DNAAffy6_GenomeWideSNP_6_C05_437266
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in MEG-01

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 MEG01_HAEMATOPO... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM28 8 24211994 24211997 MEG01_HAEMATOPO... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTSL3 p.D368Y 15 84558890 84558890 MEG01_HAEMATOPO... 37 Missense_Mutation SNP G T uc002bjz.3 ADAMTSL3_uc010b... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 MEG01_HAEMATOPO... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP6 p.G1794R 14 33292399 33292399 MEG01_HAEMATOPO... 37 Missense_Mutation SNP G A uc001wrq.2 Hybrid_Cap... view
ALPK1 4 113347609 113347610 MEG01_HAEMATOPO... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ASPH p.E200K 8 62559330 62559330 MEG01_HAEMATOPO... 37 Missense_Mutation SNP C T uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap... view
AURKC 19 57742494 57742507 MEG01_HAEMATOPO... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BCL11B p.S97I 14 99723945 99723945 MEG01_HAEMATOPO... 37 Missense_Mutation SNP C A uc001yga.2 BCL11B_uc001ygb... Hybrid_Cap... view
BMI1 p.A389V 10 22618227 22618227 MEG01_HAEMATOPO... 37 Missense_Mutation SNP C T uc009xkg.2 BMI1_uc001irh.2... Hybrid_Cap... view
BRD2 p.N429S 6 32945304 32945304 MEG01_HAEMATOPO... 37 Missense_Mutation SNP A G uc010juh.2 BRD2_uc003ocn.3... Hybrid_Cap... view
CACNB2 10 18828721 18828722 MEG01_HAEMATOPO... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CARD10 p.KE272del 22 37906309 37906314 MEG01_HAEMATOPO... 37 In_Frame_Del Del CTCCT... - uc003asx.1 CARD10_uc003ast... Hybrid_Cap...
CDKL5 p.T431A X 18622335 18622335 MEG01_HAEMATOPO... 37 Missense_Mutation SNP A G uc004cym.2 CDKL5_uc004cyn.... Hybrid_Cap... view
CHRNA5 p.I262N 15 78882518 78882518 MEG01_HAEMATOPO... 37 Missense_Mutation SNP T A uc002bdy.2 CHRNA5_uc002bdz... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 MEG01_HAEMATOPO... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 3 1339681 1339686 MEG01_HAEMATOPO... 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 MEG01_HAEMATOPO... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CTBP2 p.V120I 10 126715971 126715971 MEG01_HAEMATOPO... 37 Missense_Mutation SNP C T uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap... view
CXCL12 10 44873992 44873993 MEG01_HAEMATOPO... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DACH1 13 72014625 72014626 MEG01_HAEMATOPO... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DDX6 p.N289S 11 118629610 118629610 MEG01_HAEMATOPO... 37 Missense_Mutation SNP T C uc001pub.2 DDX6_uc001pua.2... Hybrid_Cap... view
DGKB 7 14216345 14216346 MEG01_HAEMATOPO... 37 Intron Ins - AGACT uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap...
EDN1 6 12290729 12290729 MEG01_HAEMATOPO... 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EIF2AK4 p.P940S 15 40289216 40289216 MEG01_HAEMATOPO... 37 Missense_Mutation SNP C T uc001zkm.1 EIF2AK4_uc010bb... Hybrid_Cap... view
ETV1 7 14028708 14028708 MEG01_HAEMATOPO... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
F8 p.Q772* X 154159751 154159751 MEG01_HAEMATOPO... 37 Nonsense_Mutation SNP G A uc004fmt.2 Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 MEG01_HAEMATOPO... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 MEG01_HAEMATOPO... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 MEG01_HAEMATOPO... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNA X 153577132 153577133 MEG01_HAEMATOPO... 37 3'UTR Ins - CA rs10692455;rs71733538 uc004fkk.2 FLNA_uc004fki.2... Hybrid_Cap...
FLNC p.A2329G 7 128494725 128494725 MEG01_HAEMATOPO... 37 Missense_Mutation SNP C G uc003vnz.3 FLNC_uc003voa.3... Hybrid_Cap... view
FLT1 p.Q98* 13 29041136 29041136 MEG01_HAEMATOPO... 37 Nonsense_Mutation SNP G A uc001usb.3 FLT1_uc010aar.1... Hybrid_Cap... view
FN1 2 216244182 216244185 MEG01_HAEMATOPO... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FOXP1 3 71008341 71008342 MEG01_HAEMATOPO... 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
GCNT2 6 10529036 10529036 MEG01_HAEMATOPO... 37 5'UTR SNP T C uc010joo.2 GCNT2_uc010jol.... Hybrid_Cap... view
GLI1 12 57857471 57857471 MEG01_HAEMATOPO... 37 De_novo_Start_OutOfFrame SNP C T uc001snx.2 GLI1_uc009zpp.2... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 MEG01_HAEMATOPO... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 MEG01_HAEMATOPO... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GSK3B p.V126I 3 119642321 119642321 MEG01_HAEMATOPO... 37 Missense_Mutation SNP C T uc003edn.2 GSK3B_uc003edo.... Hybrid_Cap... view
GUCY2C 12 14827464 14827466 MEG01_HAEMATOPO... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HDAC1 1 32793327 32793327 MEG01_HAEMATOPO... 37 Intron SNP C G uc001bvb.1 HDAC1_uc010ohd.... Hybrid_Cap... view
HEPH X 65476228 65476228 MEG01_HAEMATOPO... 37 Intron SNP G A uc011moz.1 HEPH_uc004dwn.2... Hybrid_Cap... view
HIF1A p.G727D 14 62211506 62211506 MEG01_HAEMATOPO... 37 Missense_Mutation SNP G A uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap... view
HIF1A 14 62213929 62213930 MEG01_HAEMATOPO... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
ILK 11 6630029 6630029 MEG01_HAEMATOPO... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGAV 2 187454839 187454839 MEG01_HAEMATOPO... 37 5'UTR SNP G A uc002upq.2 ITGAV_uc010frs.... Hybrid_Cap... view
ITGB4 p.N1229D 17 73747084 73747084 MEG01_HAEMATOPO... 37 Missense_Mutation SNP A G uc002jpg.2 ITGB4_uc002jph.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 MEG01_HAEMATOPO... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 MEG01_HAEMATOPO... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LATS2 13 21620222 21620223 MEG01_HAEMATOPO... 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
MAF 16 79632621 79632621 MEG01_HAEMATOPO... 37 Intron SNP G A uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 MEG01_HAEMATOPO... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 15 66679649 66679650 MEG01_HAEMATOPO... 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MLLT3 9 20346377 20346378 MEG01_HAEMATOPO... 37 3'UTR Ins - A rs66943046 uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap...
MN1 p.533_533Q>QQ 22 28194933 28194934 MEG01_HAEMATOPO... 37 In_Frame_Ins Ins - TGC rs45480998 uc003adj.2 Hybrid_Cap...
MYST4 p.E1104del 10 76781906 76781908 MEG01_HAEMATOPO... 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
NCAM1 11 112832307 112832308 MEG01_HAEMATOPO... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 MEG01_HAEMATOPO... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 MEG01_HAEMATOPO... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NEK4 p.S603C 3 52780097 52780097 MEG01_HAEMATOPO... 37 Missense_Mutation SNP T A uc003dfq.3 NEK4_uc011bej.1... Hybrid_Cap... view
NFIA 1 61921185 61921186 MEG01_HAEMATOPO... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NPM1 5 170837734 170837734 MEG01_HAEMATOPO... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 MEG01_HAEMATOPO... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 MEG01_HAEMATOPO... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 MEG01_HAEMATOPO... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NRK p.P426A X 105152909 105152909 MEG01_HAEMATOPO... 37 Missense_Mutation SNP C G rs55635933 uc004emd.2 NRK_uc010npc.1_... Hybrid_Cap... view
OBSCN p.P2477R 1 228467555 228467555 MEG01_HAEMATOPO... 37 Missense_Mutation SNP C G uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
ODZ1 p.S1510L X 123554614 123554614 MEG01_HAEMATOPO... 37 Missense_Mutation SNP G A uc010nqy.2 ODZ1_uc011muj.1... Hybrid_Cap... view
PAX3 2 223066017 223066018 MEG01_HAEMATOPO... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 MEG01_HAEMATOPO... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.L601fs 1 144915624 144915624 MEG01_HAEMATOPO... 37 Frame_Shift_Del Del G - rs1778112 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.E243fs 1 144923729 144923729 MEG01_HAEMATOPO... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PGR 11 100933598 100933599 MEG01_HAEMATOPO... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2A 11 17111198 17111199 MEG01_HAEMATOPO... 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PMS1 2 190670539 190670540 MEG01_HAEMATOPO... 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PPARG p.H183fs 3 12434181 12434182 MEG01_HAEMATOPO... 37 Frame_Shift_Ins Ins - A uc003bwx.2 PPARG_uc003bwr.... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 MEG01_HAEMATOPO... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RAD50 p.L642V 5 131930691 131930691 MEG01_HAEMATOPO... 37 Missense_Mutation SNP T G uc003kxi.2 RAD50_uc003kxh.... Hybrid_Cap... view
REL p.T433I 2 61149108 61149108 MEG01_HAEMATOPO... 37 Missense_Mutation SNP C T uc002sam.1 REL_uc002san.1_... Hybrid_Cap... view
RIF1 p.E1562del 2 152320713 152320715 MEG01_HAEMATOPO... 37 In_Frame_Del Del AAG - uc002txm.2 RIF1_uc002txl.2... Hybrid_Cap...
RIOK1 p.T259I 6 7404182 7404182 MEG01_HAEMATOPO... 37 Missense_Mutation SNP C T uc003mxn.2 RIOK1_uc003mxo.... Hybrid_Cap... view
RIPK1 6 3077011 3077012 MEG01_HAEMATOPO... 37 5'UTR Ins - G uc010jni.2 RIPK1_uc003muv.... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 MEG01_HAEMATOPO... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SLC45A3 p.G449E 1 205628678 205628678 MEG01_HAEMATOPO... 37 Missense_Mutation SNP C T uc001hda.1 SLC45A3_uc010pr... Hybrid_Cap... view
SMARCA4 19 11129812 11129812 MEG01_HAEMATOPO... 37 Intron SNP C T uc010dxo.2 SMARCA4_uc002mq... Hybrid_Cap... view
SS18 p.Q81* 18 23637697 23637697 MEG01_HAEMATOPO... 37 Nonsense_Mutation SNP G A uc002kvm.2 SS18_uc002kvn.2... Hybrid_Cap... view
SSU72 1 1477324 1477325 MEG01_HAEMATOPO... 37 3'UTR Del CA - rs72502747 uc001agd.2 C1orf70_uc009vk... Hybrid_Cap...
STK31 7 23872024 23872025 MEG01_HAEMATOPO... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TACC3 p.E506K 4 1732953 1732953 MEG01_HAEMATOPO... 37 Missense_Mutation SNP G A uc003gdo.2 TACC3_uc010ibz.... Hybrid_Cap... view
TMEM123 11 102269398 102269398 MEG01_HAEMATOPO... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TP53 p.H233del 17 7577582 7577584 MEG01_HAEMATOPO... 37 In_Frame_Del Del GTG - uc002gim.2 TP53_uc002gig.1... Hybrid_Cap...
TP63 3 189507518 189507519 MEG01_HAEMATOPO... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRPS1 8 116635872 116635873 MEG01_HAEMATOPO... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN 2 179391639 179391640 MEG01_HAEMATOPO... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.V17998I 2 179454756 179454756 MEG01_HAEMATOPO... 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.A15902V 2 179466408 179466408 MEG01_HAEMATOPO... 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.V13766M 2 179479241 179479241 MEG01_HAEMATOPO... 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.M9240V 2 179558712 179558712 MEG01_HAEMATOPO... 37 Missense_Mutation SNP T C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
UBR5 p.R1907H 8 103293724 103293724 MEG01_HAEMATOPO... 37 Missense_Mutation SNP C T uc003ykr.1 UBR5_uc003yks.1... Hybrid_Cap... view
ULK4 p.K216E 3 41960030 41960030 MEG01_HAEMATOPO... 37 Missense_Mutation SNP T C uc003ckv.3 ULK4_uc003ckw.2... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 MEG01_HAEMATOPO... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WHSC1L1 p.S409G 8 38187252 38187252 MEG01_HAEMATOPO... 37 Missense_Mutation SNP T C uc003xli.2 WHSC1L1_uc011lb... Hybrid_Cap... view