Annotation Summary for Cell Line: KG-1  

Cell line primary name: KG-1
Cell line aliases:
Gender: M
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: haematopoietic_neoplasm
Hist Subtype1: acute_myeloid_leukaemia
Notes:
Source: ATCC
Expression arrays: MAKER_p_NCLE_RNA7_HG-U133_Plus_2_C05_454618
SNP arrays: FIEFS_p_NCLE_DNA_Affy5_GenomeWideSNP_6_G11_410946
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in KG-1

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ABCA3 p.N1418S 16 2331134 2331134 KG1_HAEMATOPOIE... 37 Missense_Mutation SNP T C uc002cpy.1 ABCA3_uc010bsk.... Hybrid_Cap... view
ADAM17 2 9667799 9667799 KG1_HAEMATOPOIE... 37 Intron Del C - uc002qzu.2 ADAM17_uc010ewy... Hybrid_Cap...
ADAM28 8 24211994 24211997 KG1_HAEMATOPOIE... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 KG1_HAEMATOPOIE... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP12 p.E1597del 6 151674313 151674315 KG1_HAEMATOPOIE... 37 In_Frame_Del Del AAG - uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 KG1_HAEMATOPOIE... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ANGPTL4 19 8429189 8429189 KG1_HAEMATOPOIE... 37 5'UTR SNP C T uc002mjq.1 ANGPTL4_uc002mj... Hybrid_Cap... view
AXIN2 p.671_675RTTPR>R 17 63532555 63532566 KG1_HAEMATOPOIE... 37 In_Frame_Del Del CGGGG... - uc002jfi.2 AXIN2_uc002jfh.... Hybrid_Cap...
BCL3 19 45262965 45262967 KG1_HAEMATOPOIE... 37 3'UTR Del CCC - uc010xxe.1 Hybrid_Cap...
BCR 22 23631813 23631814 KG1_HAEMATOPOIE... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
CARD14 17 78182204 78182204 KG1_HAEMATOPOIE... 37 3'UTR SNP T C uc002jxw.1 CARD14_uc002jxt... Hybrid_Cap... view
CASP6 p.E29fs 4 110618922 110618923 KG1_HAEMATOPOIE... 37 Frame_Shift_Del Del TC - uc003hzn.1 CASP6_uc003hzo.... Hybrid_Cap...
CHD5 1 6240113 6240114 KG1_HAEMATOPOIE... 37 5'UTR Ins - C uc001amb.1 Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 KG1_HAEMATOPOIE... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 3 1339681 1339686 KG1_HAEMATOPOIE... 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
COL1A1 17 48262721 48262721 KG1_HAEMATOPOIE... 37 3'UTR Del A - uc002iqm.2 Hybrid_Cap...
CREB3L2 7 137565046 137565046 KG1_HAEMATOPOIE... 37 3'UTR SNP G C uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 KG1_HAEMATOPOIE... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CREBBP 16 3777691 3777691 KG1_HAEMATOPOIE... 37 3'UTR Del A - uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap...
CYSLTR2 p.V131M 13 49281344 49281344 KG1_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc010acx.1 CYSLTR2_uc010ac... Hybrid_Cap... view
CYSLTR2 p.L174R 13 49281474 49281474 KG1_HAEMATOPOIE... 37 Missense_Mutation SNP T G uc010acx.1 CYSLTR2_uc010ac... Hybrid_Cap... view
DYRK1A 21 38884966 38884967 KG1_HAEMATOPOIE... 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EDN1 6 12296150 12296151 KG1_HAEMATOPOIE... 37 Intron Ins - T rs66570617 uc003nae.3 EDN1_uc003nad.2... Hybrid_Cap...
EPHA5 4 66189753 66189754 KG1_HAEMATOPOIE... 37 3'UTR Ins - T rs67487372 uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap...
EPHA6 3 97367230 97367231 KG1_HAEMATOPOIE... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHB6 p.176_177insS 7 142562051 142562052 KG1_HAEMATOPOIE... 37 In_Frame_Ins Ins - CAT rs72043374 uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap...
EPHB6 7 142568771 142568771 KG1_HAEMATOPOIE... 37 3'UTR Del C - uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap...
ERCC3 2 128047569 128047569 KG1_HAEMATOPOIE... 37 Intron SNP G T uc002toh.1 ERCC3_uc002toe.... Hybrid_Cap... view
ESR2 14 64749777 64749777 KG1_HAEMATOPOIE... 37 De_novo_Start_InFrame SNP G A uc001xha.1 ESR2_uc001xgu.2... Hybrid_Cap... view
ETV1 7 14028708 14028708 KG1_HAEMATOPOIE... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FANCC 9 97863849 97863849 KG1_HAEMATOPOIE... 37 3'UTR SNP T C uc004avh.2 Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 KG1_HAEMATOPOIE... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 KG1_HAEMATOPOIE... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 p.S10S 11 128628021 128628021 KG1_HAEMATOPOIE... 37 Silent SNP G A uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap... view
FLI1 11 128638217 128638217 KG1_HAEMATOPOIE... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 KG1_HAEMATOPOIE... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FOXP1 3 71008341 71008342 KG1_HAEMATOPOIE... 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 KG1_HAEMATOPOIE... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 KG1_HAEMATOPOIE... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 KG1_HAEMATOPOIE... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HAPLN1 5 82937252 82937252 KG1_HAEMATOPOIE... 37 3'UTR Del A - uc003kim.2 HAPLN1_uc003kin... Hybrid_Cap...
IL1R1 2 102793339 102793339 KG1_HAEMATOPOIE... 37 3'UTR SNP G A uc002tbq.2 IL1R1_uc010fix.... Hybrid_Cap... view
ILK 11 6630029 6630029 KG1_HAEMATOPOIE... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGB8 p.R82H 7 20406666 20406666 KG1_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc003suu.2 ITGB8_uc011jyh.... Hybrid_Cap... view
JUN p.Q202P 1 59248138 59248138 KG1_HAEMATOPOIE... 37 Missense_Mutation SNP T G uc001cze.2 Hybrid_Cap... view
KLK7 19 51480672 51480675 KG1_HAEMATOPOIE... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LNX2 p.440_441insS 13 28134026 28134027 KG1_HAEMATOPOIE... 37 In_Frame_Ins Ins - GCT uc001url.3 LNX2_uc001urm.1... Hybrid_Cap...
MAF 16 79632561 79632562 KG1_HAEMATOPOIE... 37 Intron Ins - G uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAF 16 79628537 79628537 KG1_HAEMATOPOIE... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.P855R 4 140641315 140641315 KG1_HAEMATOPOIE... 37 Missense_Mutation SNP G C uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 KG1_HAEMATOPOIE... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 KG1_HAEMATOPOIE... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MCL1 1 150549800 150549801 KG1_HAEMATOPOIE... 37 3'UTR Ins - TGGTGG uc001euz.2 MCL1_uc010pch.1... Hybrid_Cap...
MLLT6 17 36881873 36881873 KG1_HAEMATOPOIE... 37 3'UTR Del C - uc002hqi.3 MLLT6_uc002hqk.... Hybrid_Cap...
MSH6 p.K866T 2 48027719 48027719 KG1_HAEMATOPOIE... 37 Missense_Mutation SNP A C uc002rwd.3 MSH6_uc002rwc.2... Hybrid_Cap... view
MYLK 3 123332876 123332876 KG1_HAEMATOPOIE... 37 3'UTR Del T - rs115544676 uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap...
MYO18B p.P2502R 22 26423445 26423445 KG1_HAEMATOPOIE... 37 Missense_Mutation SNP C G uc003abz.1 MYO18B_uc003aca... Hybrid_Cap... view
MYST4 p.E1104del 10 76781906 76781908 KG1_HAEMATOPOIE... 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
NAV3 p.G1104R 12 78513286 78513286 KG1_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc001syp.2 NAV3_uc001syo.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 KG1_HAEMATOPOIE... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 KG1_HAEMATOPOIE... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA2 p.M438I 8 71069286 71069286 KG1_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc003xyn.1 Hybrid_Cap... view
NCOA3 p.Q1276del 20 46279864 46279866 KG1_HAEMATOPOIE... 37 In_Frame_Del Del CAA - rs1132443;rs28529067 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK6 9 127113269 127113272 KG1_HAEMATOPOIE... 37 3'UTR Del CTTA - uc004boh.2 NEK6_uc004bof.2... Hybrid_Cap...
NOTCH2 p.K1514R 1 120466578 120466578 KG1_HAEMATOPOIE... 37 Missense_Mutation SNP T C uc001eik.2 Hybrid_Cap... view
NPR1 1 153665919 153665920 KG1_HAEMATOPOIE... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 KG1_HAEMATOPOIE... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 KG1_HAEMATOPOIE... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUDT10 X 51079272 51079272 KG1_HAEMATOPOIE... 37 3'UTR SNP C T uc004dph.2 NUDT10_uc004dpi... Hybrid_Cap... view
NUP214 9 134067556 134067557 KG1_HAEMATOPOIE... 37 Intron Ins - T rs66652901 uc004cag.2 NUP214_uc004cah... Hybrid_Cap...
PAPPA 9 119158982 119158982 KG1_HAEMATOPOIE... 37 3'UTR SNP T A uc004bjn.2 PAPPA_uc011lxq.... Hybrid_Cap... view
PAX3 2 223158653 223158653 KG1_HAEMATOPOIE... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PCM1 8 17813228 17813229 KG1_HAEMATOPOIE... 37 Intron Ins - TA rs112321864 uc003wyi.3 PCM1_uc011kyh.1... Hybrid_Cap...
PCSK7 p.A619fs 11 117077805 117077806 KG1_HAEMATOPOIE... 37 Frame_Shift_Ins Ins - T uc001pqr.2 PCSK7_uc001pqs.... Hybrid_Cap...
PDGFB 22 39621705 39621706 KG1_HAEMATOPOIE... 37 3'UTR Del CA - rs112885454 uc003axf.2 PDGFB_uc003axe.... Hybrid_Cap...
PGR 11 100933598 100933599 KG1_HAEMATOPOIE... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3R1 5 67584513 67584513 KG1_HAEMATOPOIE... 37 Intron Del T - uc003jva.2 PIK3R1_uc003jvb... Hybrid_Cap...
PLCG2 16 81954996 81954997 KG1_HAEMATOPOIE... 37 Intron Ins - T uc002fgt.2 PLCG2_uc010chg.... Hybrid_Cap...
PML 15 74337496 74337496 KG1_HAEMATOPOIE... 37 3'UTR SNP C T uc002awv.2 PML_uc002awu.2_... Hybrid_Cap... view
PRKCA 17 64298959 64298960 KG1_HAEMATOPOIE... 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKD3 2 37480319 37480320 KG1_HAEMATOPOIE... 37 Stop_Codon_Ins Ins - T rs79875666 uc002rqd.2 Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 KG1_HAEMATOPOIE... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTCH1 9 98270321 98270328 KG1_HAEMATOPOIE... 37 Intron Del GTGAG... - rs28475503;rs117698058 uc004avk.3 PTCH1_uc010mro.... Hybrid_Cap...
PTK6 20 62164170 62164170 KG1_HAEMATOPOIE... 37 Intron Del C - uc002yfg.2 PTK6_uc011aay.1... Hybrid_Cap...
RANBP17 5 170336881 170336881 KG1_HAEMATOPOIE... 37 Intron SNP G T uc003mba.2 RANBP17_uc003ma... Hybrid_Cap... view
RARG 12 53607125 53607125 KG1_HAEMATOPOIE... 37 Intron SNP T G uc001sce.2 RARG_uc001scd.2... Hybrid_Cap... view
RASGRF1 15 79277150 79277151 KG1_HAEMATOPOIE... 37 Intron Ins - C rs67045840;rs77640668 uc002beq.2 RASGRF1_uc002be... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 KG1_HAEMATOPOIE... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RPS6KA5 14 91360733 91360734 KG1_HAEMATOPOIE... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
SEMA5B 3 122628867 122628867 KG1_HAEMATOPOIE... 37 3'UTR SNP C A uc003efz.1 SEMA5B_uc011bju... Hybrid_Cap... view
SLK p.N5S 10 105727517 105727517 KG1_HAEMATOPOIE... 37 Missense_Mutation SNP A G uc001kxo.1 SLK_uc001kxp.1_... Hybrid_Cap... view
SMC2 p.R572Q 9 106878524 106878524 KG1_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc004bbv.2 SMC2_uc004bbu.1... Hybrid_Cap... view
SMURF2 17 62541852 62541854 KG1_HAEMATOPOIE... 37 3'UTR Del GGG - rs2872314;rs3066127 uc002jep.1 SMURF2_uc002jeq... Hybrid_Cap...
STK31 7 23872024 23872025 KG1_HAEMATOPOIE... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TACC3 4 1739519 1739527 KG1_HAEMATOPOIE... 37 Intron Del GCCAT... - rs114226356 uc003gdo.2 TACC3_uc010ibz.... Hybrid_Cap...
TEC 4 48139307 48139310 KG1_HAEMATOPOIE... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TESK1 p.L403P 9 35609066 35609066 KG1_HAEMATOPOIE... 37 Missense_Mutation SNP T C uc003zxa.2 TESK1_uc003zwz.... Hybrid_Cap... view
TET1 p.T512A 10 70333629 70333629 KG1_HAEMATOPOIE... 37 Missense_Mutation SNP A G uc001jok.3 Hybrid_Cap... view
TNFRSF18 1 1140983 1140999 KG1_HAEMATOPOIE... 37 Intron Del GGCTC... - uc001add.2 TNFRSF18_uc001a... Hybrid_Cap...
TNRC6B p.Q1328del 22 40697177 40697179 KG1_HAEMATOPOIE... 37 In_Frame_Del Del GCA - rs114291931 uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap...
TP53 p.E224_splice 17 7578176 7578176 KG1_HAEMATOPOIE... 37 Splice_Site_SNP SNP C T uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 KG1_HAEMATOPOIE... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIM33 1 114940211 114940212 KG1_HAEMATOPOIE... 37 3'UTR Ins - T rs66490349 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TTN 2 179391639 179391640 KG1_HAEMATOPOIE... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.R12169L 2 179495039 179495039 KG1_HAEMATOPOIE... 37 Missense_Mutation SNP C A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TYRO3 p.R333C 15 41860450 41860450 KG1_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc001zof.1 Hybrid_Cap... view
UBE3B 12 109947357 109947358 KG1_HAEMATOPOIE... 37 Intron Ins - T uc001top.2 UBE3B_uc001toq.... Hybrid_Cap...