Annotation Summary for Cell Line: CMK  

Cell line primary name: CMK
Cell line aliases:
Gender:
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: haematopoietic_neoplasm
Hist Subtype1: acute_myeloid_leukaemia
Notes: Identical lines: CMK, CMK-86 and CMK-11-5 share high SNP identity
Source: DSMZ
Expression arrays: GILDS_p_NCLE_RNA11_Redo_HG-U133_Plus_2_F12_587556
SNP arrays: QUAFF_p_NCLE_DNAAffy12_GenomeWideSNP_6_G08_592650
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in CMK

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 CMK_HAEMATOPOIE... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABCC3 p.Q614H 17 48745850 48745850 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP G C uc002isl.2 Hybrid_Cap... view
ACACB p.G1858K 12 109685411 109685412 CMK_HAEMATOPOIE... 37 Missense_Mutation DNP GG AA uc001tob.2 ACACB_uc001toc.... Hybrid_Cap...
AFF4 p.P259P 5 132269980 132269980 CMK_HAEMATOPOIE... 37 Silent SNP G A uc003kyd.2 AFF4_uc011cxk.1... Hybrid_Cap... view
AKAP9 7 91718853 91718853 CMK_HAEMATOPOIE... 37 Intron SNP A G uc003ulg.2 AKAP9_uc003ulf.... Hybrid_Cap... view
ALPK1 4 113347609 113347610 CMK_HAEMATOPOIE... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ASH2L p.P18L 8 37963121 37963121 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc003xkt.3 ASH2L_uc011lbk.... Hybrid_Cap... view
ATP10A p.G1341W 15 25924967 25924967 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP C A uc010ayu.2 Hybrid_Cap... view
AURKC 19 57742531 57742532 CMK_HAEMATOPOIE... 37 5'UTR Ins - C uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BIRC6 p.S3724C 2 32740659 32740659 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP C G uc010ezu.2 Hybrid_Cap... view
BRCA2 p.R2318* 13 32920978 32920978 CMK_HAEMATOPOIE... 37 Nonsense_Mutation SNP C T rs80358920 uc001uub.1 Hybrid_Cap... view
CABC1 p.L472L 1 227172264 227172264 CMK_HAEMATOPOIE... 37 Silent SNP C T uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap... view
CACNB2 10 18828721 18828722 CMK_HAEMATOPOIE... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAD p.P1700L 2 27461946 27461947 CMK_HAEMATOPOIE... 37 Missense_Mutation DNP CC TT uc002rji.2 CAD_uc010eyw.2_... Hybrid_Cap...
CDC42BPA 1 227192611 227192611 CMK_HAEMATOPOIE... 37 Intron SNP G A uc001hqr.2 CDC42BPA_uc001h... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 CMK_HAEMATOPOIE... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CIT p.R916C 12 120190013 120190013 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 CMK_HAEMATOPOIE... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CSF3R p.D40N 1 36941221 36941221 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc001cax.1 CSF3R_uc001cav.... Hybrid_Cap... view
CSPP1 p.H1039R 8 68087588 68087588 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP A G uc003xxi.2 ARFGEF1_uc003xx... Hybrid_Cap... view
CTNNB1 p.T551T 3 41275758 41275758 CMK_HAEMATOPOIE... 37 Silent SNP G A uc010hia.1 CTNNB1_uc003ckp... Hybrid_Cap... view
CYP1A2 p.T438I 15 75047191 75047191 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP C T rs45486893 uc002ayr.1 Hybrid_Cap... view
DACH1 13 72014625 72014626 CMK_HAEMATOPOIE... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
EIF2AK4 15 40284785 40284785 CMK_HAEMATOPOIE... 37 Intron SNP C T uc001zkm.1 EIF2AK4_uc010bb... Hybrid_Cap... view
EIF3A p.M96I 10 120833042 120833042 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc001ldu.2 EIF3A_uc010qsu.... Hybrid_Cap... view
EIF4G1 p.R1204Q 3 184045165 184045165 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc010hxx.2 EIF4G1_uc003fnp... Hybrid_Cap... view
EPHA3 p.V762L 3 89480447 89480447 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP G C uc003dqy.2 EPHA3_uc010hon.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 CMK_HAEMATOPOIE... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ERBB3 p.R967K 12 56493492 56493492 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap... view
ETV1 7 14028708 14028708 CMK_HAEMATOPOIE... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR3 4 1809128 1809129 CMK_HAEMATOPOIE... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 CMK_HAEMATOPOIE... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT4 5 180035146 180035146 CMK_HAEMATOPOIE... 37 Intron SNP T G uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap... view
FLT4 5 180035183 180035185 CMK_HAEMATOPOIE... 37 Intron Del AGT - uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap...
GATA1 p.E2fs X 48649520 48649521 CMK_HAEMATOPOIE... 37 Frame_Shift_Del Del GA - uc004dkq.3 Hybrid_Cap...
GATA2 p.G167S 3 128204942 128204942 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc003ekm.3 GATA2_uc003ekn.... Hybrid_Cap... view
HECW1 p.G622E 7 43484636 43484636 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc003tid.1 HECW1_uc011kbi.... Hybrid_Cap... view
HNF1A 12 121434630 121434631 CMK_HAEMATOPOIE... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 CMK_HAEMATOPOIE... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ISG15 1 948846 948847 CMK_HAEMATOPOIE... 37 5'UTR Ins - A rs33916361 uc001acj.3 Hybrid_Cap...
ITGB6 p.Q755R 2 160964194 160964194 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP T C uc002ubh.2 ITGB6_uc010fou.... Hybrid_Cap... view
ITIH5L p.L794V X 54784127 54784127 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP G C uc004dtj.2 Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 CMK_HAEMATOPOIE... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 CMK_HAEMATOPOIE... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LRP2 p.N2344del 2 170063198 170063200 CMK_HAEMATOPOIE... 37 In_Frame_Del Del GTT - uc002ues.2 Hybrid_Cap...
MAMDC4 p.G255R 9 139748755 139748755 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc004cjs.2 MAMDC4_uc011mej... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 CMK_HAEMATOPOIE... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 CMK_HAEMATOPOIE... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MLLT3 9 20346378 20346378 CMK_HAEMATOPOIE... 37 3'UTR Del A - uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap...
MYH10 17 8378929 8378929 CMK_HAEMATOPOIE... 37 3'UTR SNP T C uc002glm.2 MYH10_uc002gll.... Hybrid_Cap... view
MYH10 17 8378951 8378951 CMK_HAEMATOPOIE... 37 3'UTR SNP A G uc002glm.2 MYH10_uc002gll.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 CMK_HAEMATOPOIE... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 CMK_HAEMATOPOIE... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 CMK_HAEMATOPOIE... 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 CMK_HAEMATOPOIE... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA p.S265* 1 61798217 61798217 CMK_HAEMATOPOIE... 37 Nonsense_Mutation SNP C G uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap... view
NOS2 p.E853K 17 26091042 26091042 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc002gzu.2 Hybrid_Cap... view
NPR1 1 153665919 153665920 CMK_HAEMATOPOIE... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 CMK_HAEMATOPOIE... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
ORAOV1 11 69482155 69482155 CMK_HAEMATOPOIE... 37 3'UTR SNP C A uc001opc.2 ORAOV1_uc010rqi... Hybrid_Cap... view
PAX3 2 223066017 223066018 CMK_HAEMATOPOIE... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 CMK_HAEMATOPOIE... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDCD11 p.V235A 10 105166381 105166381 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP T C uc001kwy.1 Hybrid_Cap... view
PDE4DIP p.L601fs 1 144915624 144915624 CMK_HAEMATOPOIE... 37 Frame_Shift_Del Del G - rs1778112 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.E243fs 1 144923729 144923729 CMK_HAEMATOPOIE... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDGFRA 4 55131002 55131002 CMK_HAEMATOPOIE... 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PGGT1B 5 114548071 114548072 CMK_HAEMATOPOIE... 37 3'UTR Ins - C uc003kqw.3 PGGT1B_uc003kqx... Hybrid_Cap...
PHKG1 p.Y46Y 7 56155415 56155415 CMK_HAEMATOPOIE... 37 Silent SNP G A uc011kdb.1 PSPH_uc003trj.2... Hybrid_Cap... view
PIK3C2A 11 17111198 17111199 CMK_HAEMATOPOIE... 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PIP4K2A p.A120A 10 22880690 22880690 CMK_HAEMATOPOIE... 37 Silent SNP T C uc001irl.3 PIP4K2A_uc010qc... Hybrid_Cap... view
PPARA p.D140D 22 46614210 46614210 CMK_HAEMATOPOIE... 37 Silent SNP C T uc003bgw.1 PPARA_uc003bgx.... Hybrid_Cap... view
PRKCA 17 64298959 64298960 CMK_HAEMATOPOIE... 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 CMK_HAEMATOPOIE... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RAC1 p.I21M 7 6426870 6426870 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP C G uc003spw.2 RAC1_uc003spx.2... Hybrid_Cap... view
RAD50 p.L642V 5 131930691 131930691 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP T G uc003kxi.2 RAD50_uc003kxh.... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 CMK_HAEMATOPOIE... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
ROCK2 p.E639D 2 11354985 11354985 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP C G uc002rbd.1 Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 CMK_HAEMATOPOIE... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
SIK1 p.A497S 21 44838395 44838395 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP C A rs35519605 uc002zdf.2 Hybrid_Cap... view
SIK1 p.K198N 21 44841153 44841153 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP C G uc002zdf.2 Hybrid_Cap... view
SP140 2 231177595 231177595 CMK_HAEMATOPOIE... 37 3'UTR SNP C A uc002vql.2 SP140_uc010zma.... Hybrid_Cap... view
SSU72 1 1479105 1479106 CMK_HAEMATOPOIE... 37 Intron Ins - CT rs33935832;rs79833722 uc001agd.2 SSU72_uc009vkg.... Hybrid_Cap...
STAT5B p.L119V 17 40376817 40376817 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP A C uc002hzh.2 STAT5B_uc002hzi... Hybrid_Cap... view
STIL p.A1236P 1 47716969 47716969 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP C G uc001crd.1 TAL1_uc001crb.1... Hybrid_Cap... view
STK25 2 242435659 242435662 CMK_HAEMATOPOIE... 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
TAOK3 12 118588761 118588762 CMK_HAEMATOPOIE... 37 3'UTR Ins - T rs116872184 uc001twx.2 TAOK3_uc001twv.... Hybrid_Cap...
TEC 4 48139307 48139310 CMK_HAEMATOPOIE... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TNNI3K p.R507I 1 74832979 74832979 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP G T uc001dge.1 TNNI3K_uc001dgc... Hybrid_Cap... view
TP53 p.D49H 17 7579542 7579542 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP C G uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TRIM28 p.P814L 19 59061853 59061853 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc002qtg.1 TRIM28_uc010eut... Hybrid_Cap... view
TRPS1 8 116635872 116635873 CMK_HAEMATOPOIE... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN 2 179391639 179391640 CMK_HAEMATOPOIE... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.P6271L 2 179586846 179586846 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 CMK_HAEMATOPOIE... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WRN p.I1183M 8 31004969 31004969 CMK_HAEMATOPOIE... 37 Missense_Mutation SNP A G uc003xio.3 WRN_uc010lvk.2_... Hybrid_Cap... view