Annotation Summary for Cell Line: MHH-CALL-4  

Cell line primary name: MHH-CALL-4
Cell line aliases:
Gender: M
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: acute_lymphoblastic_B_cell_leukaemia
Notes:
Source: DSMZ
Expression arrays: SILOS_p_NCLE_RNA9_HG-U133_Plus_2_H06_523622
SNP arrays: CHARY_p_NCLE_DNAAffy9_GenomeWideSNP_6_G03_490446
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in MHH-CALL-4

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ABCC3 p.G1525R 17 48768550 48768550 MHHCALL4_HAEMAT... 37 Missense_Mutation SNP G A uc002isl.2 ABCC3_uc002isn.... Hybrid_Cap... view
ADAM17 2 9630245 9630245 MHHCALL4_HAEMAT... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 MHHCALL4_HAEMAT... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 MHHCALL4_HAEMAT... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 MHHCALL4_HAEMAT... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 MHHCALL4_HAEMAT... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ARHGAP26 p.E313K 5 142292767 142292767 MHHCALL4_HAEMAT... 37 Missense_Mutation SNP G A uc011dbj.1 ARHGAP26_uc003l... Hybrid_Cap... view
ASPH p.A264_splice 8 62550924 62550925 MHHCALL4_HAEMAT... 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
BIRC5 17 76219784 76219785 MHHCALL4_HAEMAT... 37 3'UTR Ins - AA uc002jvf.2 BIRC5_uc002jvg.... Hybrid_Cap...
CASP4 11 104819546 104819547 MHHCALL4_HAEMAT... 37 Intron Ins - AGACACAC rs33910737;rs113139978 uc001pid.1 CASP4_uc001pib.... Hybrid_Cap...
CHD1 p.S956_splice 5 98217081 98217081 MHHCALL4_HAEMAT... 37 Splice_Site_SNP SNP T A uc003knf.2 Hybrid_Cap... view
CHD8 14 21853630 21853630 MHHCALL4_HAEMAT... 37 3'UTR Del T - rs78520772 uc001was.1 CHD8_uc001war.1... Hybrid_Cap...
CHD8 p.G1178_splice 14 21868773 21868773 MHHCALL4_HAEMAT... 37 Splice_Site_SNP SNP T A uc001was.1 CHD8_uc001war.1... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 MHHCALL4_HAEMAT... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 22 19196673 19196674 MHHCALL4_HAEMAT... 37 Intron Ins - A uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN1 p.R843W 12 41418955 41418955 MHHCALL4_HAEMAT... 37 Missense_Mutation SNP C T uc001rmm.1 CNTN1_uc001rmn.... Hybrid_Cap... view
CNTN6 3 1339681 1339686 MHHCALL4_HAEMAT... 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CXCL12 10 44873992 44873993 MHHCALL4_HAEMAT... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
CYP24A1 p.T47I 20 52789979 52789979 MHHCALL4_HAEMAT... 37 Missense_Mutation SNP G A uc002xwv.2 CYP24A1_uc002xw... Hybrid_Cap... view
DDB2 11 47260457 47260457 MHHCALL4_HAEMAT... 37 3'UTR SNP A G uc001neb.2 DDB2_uc001nec.2... Hybrid_Cap... view
EIF4E 4 99808137 99808141 MHHCALL4_HAEMAT... 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
EPHA6 3 97367230 97367231 MHHCALL4_HAEMAT... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ERCC2 19 45854768 45854768 MHHCALL4_HAEMAT... 37 3'UTR Del G - uc002pbj.2 KLC3_uc002pbf.1... Hybrid_Cap...
ETV1 7 14028708 14028708 MHHCALL4_HAEMAT... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
ETV6 p.E392fs 12 12038881 12038893 MHHCALL4_HAEMAT... 37 Frame_Shift_Del Del GAGAA... - uc001qzz.2 ETV6_uc001raa.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 MHHCALL4_HAEMAT... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 MHHCALL4_HAEMAT... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 MHHCALL4_HAEMAT... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT4 p.L408P 5 180053146 180053146 MHHCALL4_HAEMAT... 37 Missense_Mutation SNP A G uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap... view
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 MHHCALL4_HAEMAT... 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FN1 2 216244182 216244185 MHHCALL4_HAEMAT... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FOXE1 p.A335G 9 100617200 100617200 MHHCALL4_HAEMAT... 37 Missense_Mutation SNP C G uc004axu.2 Hybrid_Cap... view
GRIA3 X 122318386 122318387 MHHCALL4_HAEMAT... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 MHHCALL4_HAEMAT... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HGF p.G396A 7 81350145 81350145 MHHCALL4_HAEMAT... 37 Missense_Mutation SNP C G uc003uhl.2 HGF_uc003uhm.2_... Hybrid_Cap... view
HNF1A 12 121434630 121434631 MHHCALL4_HAEMAT... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 MHHCALL4_HAEMAT... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 MHHCALL4_HAEMAT... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAK2 p.I682F 9 5078357 5078357 MHHCALL4_HAEMAT... 37 Missense_Mutation SNP A T uc010mhm.2 JAK2_uc003ziw.2... Hybrid_Cap... view
KLK7 19 51480672 51480675 MHHCALL4_HAEMAT... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KRAS p.L23R 12 25398251 25398251 MHHCALL4_HAEMAT... 37 Missense_Mutation SNP A C uc001rgp.1 KRAS_uc001rgq.1... Hybrid_Cap... view
MAF 16 79628537 79628537 MHHCALL4_HAEMAT... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 MHHCALL4_HAEMAT... 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 MHHCALL4_HAEMAT... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 MHHCALL4_HAEMAT... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K13 p.R585Q 3 185190873 185190873 MHHCALL4_HAEMAT... 37 Missense_Mutation SNP G A uc010hyf.2 MAP3K13_uc011br... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 MHHCALL4_HAEMAT... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MASTL p.V812A 10 27470463 27470463 MHHCALL4_HAEMAT... 37 Missense_Mutation SNP T C uc001itm.2 MASTL_uc001itl.... Hybrid_Cap... view
MKRN3 15 23810843 23810843 MHHCALL4_HAEMAT... 37 5'UTR SNP C T uc001ywh.3 MKRN3_uc001ywi.... Hybrid_Cap... view
MSH3 p.PPA66del 5 79950742 79950750 MHHCALL4_HAEMAT... 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
NCAM1 11 112832307 112832308 MHHCALL4_HAEMAT... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 MHHCALL4_HAEMAT... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 MHHCALL4_HAEMAT... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NPR1 1 153665919 153665920 MHHCALL4_HAEMAT... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 MHHCALL4_HAEMAT... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 MHHCALL4_HAEMAT... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR3C1 5 142780419 142780419 MHHCALL4_HAEMAT... 37 Splice_Site_SNP SNP T A uc003lmy.2 NR3C1_uc003lmz.... Hybrid_Cap... view
NUP98 p.E1303G 11 3720413 3720413 MHHCALL4_HAEMAT... 37 Missense_Mutation SNP T C uc001lyh.2 NUP98_uc001lyi.... Hybrid_Cap... view
P4HB p.Y268D 17 79804876 79804876 MHHCALL4_HAEMAT... 37 Missense_Mutation SNP A C uc002kbn.1 P4HB_uc002kbl.1... Hybrid_Cap... view
PAX3 2 223158653 223158653 MHHCALL4_HAEMAT... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.Q1665fs 1 144873963 144873963 MHHCALL4_HAEMAT... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 MHHCALL4_HAEMAT... 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDGFRA 4 55131002 55131002 MHHCALL4_HAEMAT... 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 MHHCALL4_HAEMAT... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PLCG2 16 81954996 81954997 MHHCALL4_HAEMAT... 37 Intron Ins - T uc002fgt.2 PLCG2_uc010chg.... Hybrid_Cap...
PPP3R1 p.F15_splice 2 68415824 68415824 MHHCALL4_HAEMAT... 37 Splice_Site_SNP SNP T A uc002sei.1 Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 MHHCALL4_HAEMAT... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RAPGEF2 4 160189197 160189198 MHHCALL4_HAEMAT... 37 5'UTR Ins - C uc003iqg.3 Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 MHHCALL4_HAEMAT... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RET 10 43622331 43622331 MHHCALL4_HAEMAT... 37 Intron SNP A G uc001jal.2 RET_uc001jak.1_... Hybrid_Cap... view
RIPK1 p.I54V 6 3077217 3077217 MHHCALL4_HAEMAT... 37 Missense_Mutation SNP A G uc010jni.2 RIPK1_uc003muv.... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 MHHCALL4_HAEMAT... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 MHHCALL4_HAEMAT... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SH3GL1 p.R253Q 19 4362704 4362704 MHHCALL4_HAEMAT... 37 Missense_Mutation SNP C T uc002maj.2 SH3GL1_uc002mak... Hybrid_Cap... view
STAT5A 17 40462797 40462800 MHHCALL4_HAEMAT... 37 3'UTR Del TGTG - uc002hzj.1 STAT5A_uc010cya... Hybrid_Cap...
STK25 2 242435659 242435662 MHHCALL4_HAEMAT... 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 MHHCALL4_HAEMAT... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STK38 p.L206V 6 36483168 36483168 MHHCALL4_HAEMAT... 37 Missense_Mutation SNP G C uc003omg.2 STK38_uc003omh.... Hybrid_Cap... view
TACC3 p.E822K 4 1746687 1746687 MHHCALL4_HAEMAT... 37 Missense_Mutation SNP G A uc003gdo.2 TACC3_uc003gdp.... Hybrid_Cap... view
TCF21 6 134210497 134210498 MHHCALL4_HAEMAT... 37 5'UTR Ins - TCTC rs35199378 uc003qei.3 TCF21_uc003qej.... Hybrid_Cap...
TGFB3 14 76425374 76425374 MHHCALL4_HAEMAT... 37 3'UTR SNP G A uc001xsc.2 Hybrid_Cap... view
TLK1 2 171850178 171850179 MHHCALL4_HAEMAT... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TNFSF10 p.A55T 3 172232758 172232758 MHHCALL4_HAEMAT... 37 Missense_Mutation SNP C T uc003fid.2 TNFSF10_uc003fi... Hybrid_Cap... view
TP63 3 189507518 189507519 MHHCALL4_HAEMAT... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TPR p.G2025C 1 186294935 186294935 MHHCALL4_HAEMAT... 37 Missense_Mutation SNP C A uc001grv.2 Hybrid_Cap... view
TRPS1 8 116635872 116635873 MHHCALL4_HAEMAT... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TSC2 16 2138671 2138672 MHHCALL4_HAEMAT... 37 3'UTR Del AA - uc002con.2 TSC2_uc010bsd.2... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 MHHCALL4_HAEMAT... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VPS13B p.F584I 8 100155300 100155300 MHHCALL4_HAEMAT... 37 Missense_Mutation SNP T A uc003yiv.2 VPS13B_uc003yiw... Hybrid_Cap... view
XPO4 p.S498_splice 13 21382722 21382722 MHHCALL4_HAEMAT... 37 Splice_Site_SNP SNP T A uc001unq.3 Hybrid_Cap... view