Annotation Summary for Cell Line: BL-41  

Cell line primary name: BL-41
Cell line aliases:
Gender: M
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: Burkitt_lymphoma
Notes:
Source: DSMZ
Expression arrays: BITTS_p_NCLE_RNA12_HG-U133_Plus_2_C02_698770
SNP arrays: BOWER_p_NCLE_DNAAffy8_GenomeWideSNP_6_F04_464688
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in BL-41

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ADAM17 2 9630245 9630245 BL41_HAEMATOPOI... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 BL41_HAEMATOPOI... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 BL41_HAEMATOPOI... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK2 p.1388_1389FF>F 18 56203253 56203255 BL41_HAEMATOPOI... 37 In_Frame_Del Del AAG - uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ALPK2 p.P1777T 18 56202090 56202090 BL41_HAEMATOPOI... 37 Missense_Mutation SNP G T uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap... view
ANAPC5 12 121790193 121790195 BL41_HAEMATOPOI... 37 5'UTR Del CAC - uc001uag.2 ANAPC5_uc001uah... Hybrid_Cap...
ARID1A p.A1648fs 1 27101662 27101663 BL41_HAEMATOPOI... 37 Frame_Shift_Ins Ins - A uc001bmv.1 ARID1A_uc001bmt... Hybrid_Cap...
BLM 15 91303326 91303326 BL41_HAEMATOPOI... 37 Intron Del T - uc002bpr.2 BLM_uc010uqh.1_... Hybrid_Cap...
BRIP1 p.L700_splice 17 59821954 59821954 BL41_HAEMATOPOI... 37 Splice_Site_SNP SNP T A uc002izk.1 BRIP1_uc002izl.... Hybrid_Cap... view
CAMKV p.T103S 3 49899006 49899006 BL41_HAEMATOPOI... 37 Missense_Mutation SNP T A uc003cxt.1 CAMKV_uc011bcy.... Hybrid_Cap... view
CARD10 p.KE272del 22 37906309 37906314 BL41_HAEMATOPOI... 37 In_Frame_Del Del CTCCT... - uc003asx.1 CARD10_uc003ast... Hybrid_Cap...
CASP1 p.T230M 11 104900565 104900565 BL41_HAEMATOPOI... 37 Missense_Mutation SNP G A uc010rve.1 CASP1_uc001pig.... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 BL41_HAEMATOPOI... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 BL41_HAEMATOPOI... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
DACH1 13 72014625 72014626 BL41_HAEMATOPOI... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DNAH8 6 38952247 38952250 BL41_HAEMATOPOI... 37 Intron Del CACA - uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap...
DST p.P1648H 6 56479170 56479170 BL41_HAEMATOPOI... 37 Missense_Mutation SNP G T uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
EDN1 6 12296150 12296151 BL41_HAEMATOPOI... 37 Intron Ins - T rs66570617 uc003nae.3 EDN1_uc003nad.2... Hybrid_Cap...
EIF4E 4 99808137 99808141 BL41_HAEMATOPOI... 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
EPHA10 p.S160R 1 38227447 38227447 BL41_HAEMATOPOI... 37 Missense_Mutation SNP G T uc009vvi.2 EPHA10_uc001cbw... Hybrid_Cap... view
ERCC6 p.N310fs 10 50732547 50732547 BL41_HAEMATOPOI... 37 Frame_Shift_Del Del T - uc001jhs.3 PGBD3_uc001jht.... Hybrid_Cap...
ETV1 7 14028708 14028708 BL41_HAEMATOPOI... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR3 4 1809128 1809129 BL41_HAEMATOPOI... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 BL41_HAEMATOPOI... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 BL41_HAEMATOPOI... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FZD1 p.93_94insP 7 90894459 90894460 BL41_HAEMATOPOI... 37 In_Frame_Ins Ins - CCG uc003ula.2 Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 BL41_HAEMATOPOI... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 BL41_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 BL41_HAEMATOPOI... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 BL41_HAEMATOPOI... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 BL41_HAEMATOPOI... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
IGF1R p.V554M 15 99456343 99456343 BL41_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002bul.2 IGF1R_uc010urq.... Hybrid_Cap... view
ILK 11 6630029 6630029 BL41_HAEMATOPOI... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INSRR p.P628L 1 156815839 156815839 BL41_HAEMATOPOI... 37 Missense_Mutation SNP G A uc010pht.1 NTRK1_uc001fqf.... Hybrid_Cap... view
ITGB1 10 33197131 33197134 BL41_HAEMATOPOI... 37 Intron Del CTTT - rs116966876 uc001iwq.3 ITGB1_uc001iwp.... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 BL41_HAEMATOPOI... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 BL41_HAEMATOPOI... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
MAF 16 79628537 79628537 BL41_HAEMATOPOI... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 BL41_HAEMATOPOI... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 BL41_HAEMATOPOI... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 BL41_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K4 p.K1080R 6 161513145 161513145 BL41_HAEMATOPOI... 37 Missense_Mutation SNP A G uc003qtn.2 MAP3K4_uc010kkc... Hybrid_Cap... view
MAP4K4 p.V918I 2 102486869 102486869 BL41_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002tbc.2 MAP4K4_uc002tbd... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 BL41_HAEMATOPOI... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MAPKBP1 15 42111753 42111754 BL41_HAEMATOPOI... 37 Intron Ins - C rs3034891 uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MAST1 p.G1131R 19 12984265 12984265 BL41_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002mvm.2 Hybrid_Cap... view
MET 7 116381154 116381154 BL41_HAEMATOPOI... 37 Intron SNP T G uc010lkh.2 MET_uc003vij.2_... Hybrid_Cap... view
MMP9 p.A399V 20 44641087 44641087 BL41_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002xqz.2 Hybrid_Cap... view
MSH3 p.PPA66del 5 79950742 79950750 BL41_HAEMATOPOI... 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MTOR p.I2017T 1 11187847 11187847 BL41_HAEMATOPOI... 37 Missense_Mutation SNP A G uc001asd.2 MTOR_uc001asc.2... Hybrid_Cap... view
MYC p.C40W 8 128750583 128750583 BL41_HAEMATOPOI... 37 Missense_Mutation SNP C G uc003ysi.2 MYC_uc003ysh.1_... Hybrid_Cap... view
MYC p.L164V 8 128750953 128750953 BL41_HAEMATOPOI... 37 Missense_Mutation SNP C G uc003ysi.2 MYC_uc003ysh.1_... Hybrid_Cap... view
MYC p.D266N 8 128751259 128751259 BL41_HAEMATOPOI... 37 Missense_Mutation SNP G A uc003ysi.2 Hybrid_Cap... view
MYT1 20 62871805 62871805 BL41_HAEMATOPOI... 37 3'UTR SNP G A uc002yii.2 MYT1_uc002yij.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 BL41_HAEMATOPOI... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 BL41_HAEMATOPOI... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA2 8 71129001 71129001 BL41_HAEMATOPOI... 37 Splice_Site_SNP SNP T A uc003xyn.1 Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 BL41_HAEMATOPOI... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 BL41_HAEMATOPOI... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NPR1 1 153665919 153665920 BL41_HAEMATOPOI... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 BL41_HAEMATOPOI... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAX3 2 223158653 223158653 BL41_HAEMATOPOI... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX5 9 37034095 37034095 BL41_HAEMATOPOI... 37 5'UTR Del C - uc003zzo.1 PAX5_uc011lpw.1... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 BL41_HAEMATOPOI... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3C3 p.K845T 18 39647362 39647362 BL41_HAEMATOPOI... 37 Missense_Mutation SNP A C uc002lap.2 PIK3C3_uc010xcl... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 BL41_HAEMATOPOI... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RALA p.Q72K 7 39730080 39730080 BL41_HAEMATOPOI... 37 Missense_Mutation SNP C A uc003thd.2 Hybrid_Cap... view
RHPN2 p.V347M 19 33493219 33493219 BL41_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002nuf.2 RHPN2_uc010xro.... Hybrid_Cap... view
RPS6KB1 17 58024224 58024225 BL41_HAEMATOPOI... 37 3'UTR Ins - AA rs67846207 uc002ixy.2 RPS6KB1_uc010dd... Hybrid_Cap...
SH3GL1 p.E49K 19 4366540 4366540 BL41_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002maj.2 SH3GL1_uc002mak... Hybrid_Cap... view
STK25 2 242435659 242435662 BL41_HAEMATOPOI... 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 BL41_HAEMATOPOI... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TET1 p.A1837S 10 70450669 70450669 BL41_HAEMATOPOI... 37 Missense_Mutation SNP G T uc001jok.3 Hybrid_Cap... view
TFDP1 p.K187del 13 114288284 114288286 BL41_HAEMATOPOI... 37 In_Frame_Del Del AGA - uc001vtw.2 TFDP1_uc010tkd.... Hybrid_Cap...
TMEM123 11 102269398 102269398 BL41_HAEMATOPOI... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TMPO p.R230C 12 98926723 98926723 BL41_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001tfh.1 TMPO_uc001tfi.1... Hybrid_Cap... view
TP53 p.R248Q 17 7577538 7577538 BL41_HAEMATOPOI... 37 Missense_Mutation SNP C T rs11540652 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TTN p.R24608L 2 179429332 179429332 BL41_HAEMATOPOI... 37 Missense_Mutation SNP C A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 BL41_HAEMATOPOI... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WNK1 p.V562A 12 970243 970243 BL41_HAEMATOPOI... 37 Missense_Mutation SNP T C uc001qio.3 WNK1_uc001qip.3... Hybrid_Cap... view
ZAP70 2 98351655 98351655 BL41_HAEMATOPOI... 37 Intron Del G - uc002syd.1 ZAP70_uc010yvf.... Hybrid_Cap...