Annotation Summary for Cell Line: BL-70  

Cell line primary name: BL-70
Cell line aliases:
Gender: M
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: Burkitt_lymphoma
Notes:
Source: DSMZ
Expression arrays: MAKER_p_NCLE_RNA7_HG-U133_Plus_2_E11_454676
SNP arrays: BOWER_p_NCLE_DNAAffy8_GenomeWideSNP_6_H07_464644
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in BL-70

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 BL70_HAEMATOPOI... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABCA3 17 35766564 35766564 BL70_HAEMATOPOI... 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAM17 2 9630245 9630245 BL70_HAEMATOPOI... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 BL70_HAEMATOPOI... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAM29 p.L691del 4 175898744 175898746 BL70_HAEMATOPOI... 37 In_Frame_Del Del TTA - uc003iuc.2 ADAM29_uc003iud... Hybrid_Cap...
AKAP12 p.K439I 8 39079211 39079211 BL70_HAEMATOPOI... 37 Missense_Mutation SNP A T uc003xmt.3 ADAM32_uc011lch... Hybrid_Cap... view
AKAP9 p.R831Q 5 132228001 132228001 BL70_HAEMATOPOI... 37 Missense_Mutation SNP C T uc003kyd.2 AFF4_uc011cxk.1... Hybrid_Cap... view
AKT2 p.1531_1532insE 6 151674116 151674117 BL70_HAEMATOPOI... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK1 p.EDTST1006del 18 56204388 56204402 BL70_HAEMATOPOI... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ALPK1 4 113347609 113347610 BL70_HAEMATOPOI... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ARNT 2 175939223 175939224 BL70_HAEMATOPOI... 37 3'UTR Ins - A uc002ujl.2 ATF2_uc010fqv.2... Hybrid_Cap...
AXIN2 22 23632777 23632778 BL70_HAEMATOPOI... 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BAX 10 18828721 18828722 BL70_HAEMATOPOI... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
BCR p.P267fs 6 41903755 41903756 BL70_HAEMATOPOI... 37 Frame_Shift_Ins Ins - G uc003orn.2 CCND3_uc003orp.... Hybrid_Cap...
CACNB2 12 120125896 120125896 BL70_HAEMATOPOI... 37 3'UTR SNP C T uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap... view
CBL p.V1201_splice 22 19189003 19189004 BL70_HAEMATOPOI... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CEBPA p.T352M 17 80207309 80207309 BL70_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002kef.2 SLC16A3_uc002ke... Hybrid_Cap... view
CHD1 13 72014625 72014626 BL70_HAEMATOPOI... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
CLTCL1 p.R311P 17 7481170 7481170 BL70_HAEMATOPOI... 37 Missense_Mutation SNP G C uc002gho.1 EIF4A1_uc002ghr... Hybrid_Cap... view
CSF1R 4 99808137 99808141 BL70_HAEMATOPOI... 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
DDR2 9 97863893 97863893 BL70_HAEMATOPOI... 37 3'UTR SNP T C rs55687573 uc004avh.2 Hybrid_Cap... view
DIP2C 5 127595046 127595048 BL70_HAEMATOPOI... 37 3'UTR Del TTA - uc003kuu.2 Hybrid_Cap...
DNAH8 6 167453519 167453520 BL70_HAEMATOPOI... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
EIF4E 11 128638217 128638217 BL70_HAEMATOPOI... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
EP300 p.E1160V 3 58109172 58109172 BL70_HAEMATOPOI... 37 Missense_Mutation SNP A T uc010hne.2 FLNB_uc003djj.2... Hybrid_Cap... view
EPHA6 2 216244182 216244185 BL70_HAEMATOPOI... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
ERG p.D2657del X 135474445 135474447 BL70_HAEMATOPOI... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
ERN2 X 122318386 122318387 BL70_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
ETV1 12 14827464 14827466 BL70_HAEMATOPOI... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
FANCI p.E791del 12 104341188 104341190 BL70_HAEMATOPOI... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
FGFR1OP 11 6630029 6630029 BL70_HAEMATOPOI... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
FIGF p.R470_splice 12 26834804 26834805 BL70_HAEMATOPOI... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
FLI1 p.L160W 4 55564591 55564591 BL70_HAEMATOPOI... 37 Missense_Mutation SNP T G uc010igr.2 KIT_uc010igs.2_... Hybrid_Cap... view
FN1 19 51480672 51480675 BL70_HAEMATOPOI... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
GOLGA5 p.Q767_splice 4 140651585 140651587 BL70_HAEMATOPOI... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
GPR112 3 185146311 185146311 BL70_HAEMATOPOI... 37 5'UTR SNP A C uc010hyf.2 MAP3K13_uc011br... Hybrid_Cap... view
GPR112 p.T949del 5 56177849 56177851 BL70_HAEMATOPOI... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
GRIA3 p.R218_splice 17 43364293 43364294 BL70_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
HIF1A 3 50685575 50685575 BL70_HAEMATOPOI... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
HNF1A 21 47671275 47671276 BL70_HAEMATOPOI... 37 3'UTR Ins - AAT rs67797185 uc002zin.2 MCM3APAS_uc002z... Hybrid_Cap...
IL6ST p.Q3016H 7 151873490 151873490 BL70_HAEMATOPOI... 37 Missense_Mutation SNP T G uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap... view
ILK p.R499Q 6 31727239 31727239 BL70_HAEMATOPOI... 37 Missense_Mutation SNP G A uc003nwt.1 MSH5_uc003nwu.1... Hybrid_Cap... view
INHBA p.P72H 8 128750678 128750678 BL70_HAEMATOPOI... 37 Missense_Mutation SNP C A uc003ysi.2 MYC_uc003ysh.1_... Hybrid_Cap... view
ITPR2 p.T73I 8 128750681 128750681 BL70_HAEMATOPOI... 37 Missense_Mutation SNP C T uc003ysi.2 MYC_uc003ysh.1_... Hybrid_Cap... view
JAG2 16 15797783 15797787 BL70_HAEMATOPOI... 37 3'UTR Del TTTTT - uc002ddx.2 MYH11_uc002ddv.... Hybrid_Cap...
KLK7 11 112832307 112832308 BL70_HAEMATOPOI... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
MAML1 11 112832340 112832340 BL70_HAEMATOPOI... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
MAML3 3 27203801 27203801 BL70_HAEMATOPOI... 37 3'UTR SNP C T uc003cds.1 NEK10_uc010hfj.... Hybrid_Cap... view
MAP3K1 p.K313_splice 13 52718050 52718051 BL70_HAEMATOPOI... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
MAP3K14 9 127113281 127113281 BL70_HAEMATOPOI... 37 3'UTR SNP G T uc004boh.2 NEK6_uc004bof.2... Hybrid_Cap... view
MAPK14 1 61921185 61921186 BL70_HAEMATOPOI... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
MGA p.Q774* 17 5461696 5461696 BL70_HAEMATOPOI... 37 Nonsense_Mutation SNP G A uc002gci.2 NLRP1_uc002gcg.... Hybrid_Cap... view
MGC42105 1 153665919 153665920 BL70_HAEMATOPOI... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
MYLK p.176_177insQ 19 50881820 50881821 BL70_HAEMATOPOI... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NCAM1 p.176_177insQ 19 50881822 50881823 BL70_HAEMATOPOI... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NCAM1 2 223158653 223158653 BL70_HAEMATOPOI... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
NCOA4 1 144863860 144863861 BL70_HAEMATOPOI... 37 Intron Ins - T rs33949841 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
NFIA p.V486fs 1 144917828 144917828 BL70_HAEMATOPOI... 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
NFKB1 11 100933598 100933599 BL70_HAEMATOPOI... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
NR1H2 p.K567E 5 67591106 67591106 BL70_HAEMATOPOI... 37 Missense_Mutation SNP A G uc003jva.2 PIK3R1_uc003jvb... Hybrid_Cap... view
NUP214 2 190670539 190670540 BL70_HAEMATOPOI... 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PAX3 1 3350523 3350523 BL70_HAEMATOPOI... 37 3'UTR SNP A G uc001akf.2 PRDM16_uc001akc... Hybrid_Cap... view
PGR p.L1244fs 8 48805816 48805817 BL70_HAEMATOPOI... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PHIP p.V175M 1 170695466 170695466 BL70_HAEMATOPOI... 37 Missense_Mutation SNP G A uc001ghf.2 PRRX1_uc001ghe.... Hybrid_Cap... view
PRKCA p.R766fs 8 145738768 145738768 BL70_HAEMATOPOI... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
PRKCE 5 38942186 38942186 BL70_HAEMATOPOI... 37 3'UTR SNP G T uc003jlo.2 RICTOR_uc003jlp... Hybrid_Cap... view
PRKD1 p.R953H 11 121429494 121429494 BL70_HAEMATOPOI... 37 Missense_Mutation SNP G A uc001pxx.2 Hybrid_Cap... view
PRKD3 7 23872024 23872025 BL70_HAEMATOPOI... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
PRKDC 4 48139307 48139310 BL70_HAEMATOPOI... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
PSMA4 p.T5A 4 48230619 48230619 BL70_HAEMATOPOI... 37 Missense_Mutation SNP T C uc003gxz.2 Hybrid_Cap... view
RBPJ 11 102269398 102269398 BL70_HAEMATOPOI... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
RGS22 11 102269461 102269461 BL70_HAEMATOPOI... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
RPS6KA6 p.R273C 17 7577121 7577121 BL70_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
RPS6KL1 3 189507518 189507519 BL70_HAEMATOPOI... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
RPTOR p.K72R 5 14270991 14270991 BL70_HAEMATOPOI... 37 Missense_Mutation SNP A G uc003jff.2 TRIO_uc003jfg.2... Hybrid_Cap... view
SOX2 8 116635872 116635873 BL70_HAEMATOPOI... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
STK31 p.P10765P 2 179515998 179515998 BL70_HAEMATOPOI... 37 Silent SNP G C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
STK40 p.N4562S 2 179596076 179596076 BL70_HAEMATOPOI... 37 Missense_Mutation SNP T C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TCEA1 p.S419_splice 4 177605082 177605084 BL70_HAEMATOPOI... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...