Annotation Summary for Cell Line: MHH-CALL-2  

Cell line primary name: MHH-CALL-2
Cell line aliases:
Gender: F
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: acute_lymphoblastic_B_cell_leukaemia
Notes:
Source: DSMZ
Expression arrays: WATCH_p_NCLE_RNA8_HG-U133_Plus_2_E05_474712
SNP arrays: MISTS_p_NCLE_DNAAffy11_GenomeWideSNP_6_C03_578316
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in MHH-CALL-2

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 MHHCALL2_HAEMAT... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM17 2 9630245 9630245 MHHCALL2_HAEMAT... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 MHHCALL2_HAEMAT... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AIFM3 22 21335456 21335456 MHHCALL2_HAEMAT... 37 3'UTR SNP C G uc002ztj.2 AIFM3_uc002ztk.... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 MHHCALL2_HAEMAT... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 MHHCALL2_HAEMAT... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
BCR 22 23631813 23631814 MHHCALL2_HAEMAT... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
CACNA1F p.815_815E>EE X 49076224 49076225 MHHCALL2_HAEMAT... 37 In_Frame_Ins Ins - TCC uc004dnb.2 CACNA1F_uc010ni... Hybrid_Cap...
CACNB2 10 18828721 18828722 MHHCALL2_HAEMAT... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CASP4 11 104822612 104822612 MHHCALL2_HAEMAT... 37 Intron SNP T C uc001pid.1 CASP4_uc001pib.... Hybrid_Cap... view
CDC25A p.P419S 3 48205864 48205864 MHHCALL2_HAEMAT... 37 Missense_Mutation SNP G A uc003csh.1 CDC25A_uc003csi... Hybrid_Cap... view
CDK11B 1 1654066 1654068 MHHCALL2_HAEMAT... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK9 9 130551898 130551898 MHHCALL2_HAEMAT... 37 3'UTR SNP T C uc004bse.2 Hybrid_Cap... view
CEP110 9 123912864 123912864 MHHCALL2_HAEMAT... 37 Intron SNP C T uc004bkx.1 CEP110_uc004bky... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 MHHCALL2_HAEMAT... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHD8 14 21853630 21853630 MHHCALL2_HAEMAT... 37 3'UTR Del T - rs78520772 uc001was.1 CHD8_uc001war.1... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 MHHCALL2_HAEMAT... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CTBP2 p.K974fs 10 126678123 126678123 MHHCALL2_HAEMAT... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
DACH1 13 72014625 72014626 MHHCALL2_HAEMAT... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
EPHA6 3 97367230 97367231 MHHCALL2_HAEMAT... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ETV1 7 14028708 14028708 MHHCALL2_HAEMAT... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FANCD2 3 10143086 10143087 MHHCALL2_HAEMAT... 37 3'UTR Ins - A uc003bux.1 FANCD2_uc003buy... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 MHHCALL2_HAEMAT... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLI1 11 128638217 128638217 MHHCALL2_HAEMAT... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 MHHCALL2_HAEMAT... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GRIA3 X 122318386 122318387 MHHCALL2_HAEMAT... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 MHHCALL2_HAEMAT... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HNF1A 12 121434630 121434631 MHHCALL2_HAEMAT... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
IL1RAP p.C212F 3 190338161 190338161 MHHCALL2_HAEMAT... 37 Missense_Mutation SNP G T uc003fsq.2 IL1RAP_uc003fsk... Hybrid_Cap... view
ILK 11 6630029 6630029 MHHCALL2_HAEMAT... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
LETM2 p.V347G 8 38261987 38261987 MHHCALL2_HAEMAT... 37 Missense_Mutation SNP T G uc003xlm.1 LETM2_uc011lbn.... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 MHHCALL2_HAEMAT... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 MHHCALL2_HAEMAT... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K11 p.R73Q 11 65381010 65381010 MHHCALL2_HAEMAT... 37 Missense_Mutation SNP C T uc001oew.2 MAP3K11_uc010ro... Hybrid_Cap... view
MAP3K14 p.R218_splice 17 43364293 43364294 MHHCALL2_HAEMAT... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MCM3APAS 21 47671275 47671276 MHHCALL2_HAEMAT... 37 3'UTR Ins - AAT rs67797185 uc002zin.2 MCM3APAS_uc002z... Hybrid_Cap...
MECOM 3 169381262 169381262 MHHCALL2_HAEMAT... 37 5'UTR SNP G C rs10581416 uc011bpj.1 MECOM_uc011bpk.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 MHHCALL2_HAEMAT... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 MHHCALL2_HAEMAT... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 MHHCALL2_HAEMAT... 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 MHHCALL2_HAEMAT... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NF1 p.Q535* 17 29546098 29546098 MHHCALL2_HAEMAT... 37 Nonsense_Mutation SNP C T uc002hgg.2 NF1_uc002hge.1_... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881820 50881821 MHHCALL2_HAEMAT... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAX3 2 223158653 223158653 MHHCALL2_HAEMAT... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.L601fs 1 144915624 144915624 MHHCALL2_HAEMAT... 37 Frame_Shift_Del Del G - rs1778112 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.E243fs 1 144923729 144923729 MHHCALL2_HAEMAT... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PGR 11 100933598 100933599 MHHCALL2_HAEMAT... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 MHHCALL2_HAEMAT... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RABEP1 17 5241551 5241551 MHHCALL2_HAEMAT... 37 Intron SNP A C uc002gbm.3 RABEP1_uc010clc... Hybrid_Cap... view
RBPJ 4 26431822 26431822 MHHCALL2_HAEMAT... 37 Intron Del A - rs76214390 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 MHHCALL2_HAEMAT... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
STK31 7 23872024 23872025 MHHCALL2_HAEMAT... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TET1 p.F329C 10 70333081 70333081 MHHCALL2_HAEMAT... 37 Missense_Mutation SNP T G uc001jok.3 Hybrid_Cap... view
TLR3 p.A802E 4 187005245 187005245 MHHCALL2_HAEMAT... 37 Missense_Mutation SNP C A uc003iyq.2 TLR3_uc011ckz.1... Hybrid_Cap... view
TMEM123 11 102269398 102269398 MHHCALL2_HAEMAT... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNRC6B p.Q1328del 22 40697177 40697179 MHHCALL2_HAEMAT... 37 In_Frame_Del Del GCA - rs114291931 uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap...
TRPS1 8 116635872 116635873 MHHCALL2_HAEMAT... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTBK1 p.E771del 6 43250726 43250728 MHHCALL2_HAEMAT... 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 MHHCALL2_HAEMAT... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
XPO5 6 43491533 43491533 MHHCALL2_HAEMAT... 37 3'UTR SNP G A uc003ovp.2 POLR1C_uc003ovo... Hybrid_Cap... view