Annotation Summary for Cell Line: 8-MG-BA  

Cell line primary name: 8-MG-BA
Cell line aliases:
Gender: F
Site Primary: central_nervous_system
Histology: glioma
Hist Subtype1: astrocytoma_Grade_IV
Notes:
Source: DSMZ
Expression arrays: NIECE_p_NCLE_RNA3_HG-U133_Plus_2_E02_296088
SNP arrays: HONEY_p_NCLE_DNAAffy3_S_GenomeWideSNP_6_E11_293396
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in 8-MG-BA

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 8MGBA_CENTRAL_N... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM18 p.L539F 8 39535041 39535041 8MGBA_CENTRAL_N... 37 Missense_Mutation SNP A T uc003xni.2 ADAM18_uc010lww... Hybrid_Cap... view
ADAM28 8 24211994 24211997 8MGBA_CENTRAL_N... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 8MGBA_CENTRAL_N... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK1 4 113347609 113347610 8MGBA_CENTRAL_N... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 8MGBA_CENTRAL_N... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
APC p.2122_2123insA 5 112177642 112177643 8MGBA_CENTRAL_N... 37 In_Frame_Ins Ins - GCT uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap...
ASPH p.L418V 8 62479775 62479775 8MGBA_CENTRAL_N... 37 Missense_Mutation SNP G C uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap... view
BCAR1 p.F183V 16 75276592 75276592 8MGBA_CENTRAL_N... 37 Missense_Mutation SNP A C uc010vnb.1 BCAR1_uc010cgu.... Hybrid_Cap... view
BMP4 14 54416602 54416602 8MGBA_CENTRAL_N... 37 3'UTR Del T - rs76335800 uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap...
BTK X 100604852 100604852 8MGBA_CENTRAL_N... 37 3'UTR SNP C A rs41311721 uc010nno.2 TIMM8A_uc004ehd... Hybrid_Cap... view
CACNA1F p.815_815E>EE X 49076224 49076225 8MGBA_CENTRAL_N... 37 In_Frame_Ins Ins - TCC uc004dnb.2 CACNA1F_uc010ni... Hybrid_Cap...
CARD10 p.KE272del 22 37906309 37906314 8MGBA_CENTRAL_N... 37 In_Frame_Del Del CTCCT... - uc003asx.1 CARD10_uc003ast... Hybrid_Cap...
CDK11B 1 1654066 1654068 8MGBA_CENTRAL_N... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 8MGBA_CENTRAL_N... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CTBP2 p.K974fs 10 126678123 126678123 8MGBA_CENTRAL_N... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
DACH1 13 72014625 72014626 8MGBA_CENTRAL_N... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DDR2 1 162750211 162750212 8MGBA_CENTRAL_N... 37 3'UTR Del TT - uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap...
DNAH8 6 38952247 38952250 8MGBA_CENTRAL_N... 37 Intron Del CACA - uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap...
DYRK1A 21 38884966 38884967 8MGBA_CENTRAL_N... 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EIF4G1 p.R1000C 3 184043283 184043283 8MGBA_CENTRAL_N... 37 Missense_Mutation SNP C T uc010hxx.2 EIF4G1_uc003fnp... Hybrid_Cap... view
EPHA6 3 97367230 97367231 8MGBA_CENTRAL_N... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ERCC5 p.R874C 13 103514757 103514757 8MGBA_CENTRAL_N... 37 Missense_Mutation SNP C T uc001vpu.1 ERCC5_uc010tjb.... Hybrid_Cap... view
EXT1 8 118811807 118811807 8MGBA_CENTRAL_N... 37 3'UTR Del T - uc003yok.1 Hybrid_Cap...
FGFR1OP 6 167453519 167453520 8MGBA_CENTRAL_N... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLI1 11 128638217 128638217 8MGBA_CENTRAL_N... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 8MGBA_CENTRAL_N... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FN1 p.T1642T 2 216248175 216248175 8MGBA_CENTRAL_N... 37 Silent SNP G A uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap... view
GPR112 p.Q8H X 135390960 135390960 8MGBA_CENTRAL_N... 37 Missense_Mutation SNP G T uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 8MGBA_CENTRAL_N... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 8MGBA_CENTRAL_N... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 8MGBA_CENTRAL_N... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 8MGBA_CENTRAL_N... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 8MGBA_CENTRAL_N... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
IFNG p.L56F 12 68551986 68551986 8MGBA_CENTRAL_N... 37 Missense_Mutation SNP C A uc001stw.1 Hybrid_Cap... view
ILK 11 6630029 6630029 8MGBA_CENTRAL_N... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 8MGBA_CENTRAL_N... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 8MGBA_CENTRAL_N... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
MAF 16 79628537 79628537 8MGBA_CENTRAL_N... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 8MGBA_CENTRAL_N... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 8MGBA_CENTRAL_N... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MYST4 p.E1104del 10 76781906 76781908 8MGBA_CENTRAL_N... 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
MYST4 p.R1190M 10 76784912 76784913 8MGBA_CENTRAL_N... 37 Missense_Mutation DNP GA TG uc001jwn.1 MYST4_uc001jwo.... Hybrid_Cap...
NCAM1 11 112832307 112832308 8MGBA_CENTRAL_N... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 8MGBA_CENTRAL_N... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 8MGBA_CENTRAL_N... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NF1 p.P1084S 17 29559143 29559143 8MGBA_CENTRAL_N... 37 Missense_Mutation SNP C T uc002hgg.2 NF1_uc002hgh.2_... Hybrid_Cap... view
NFKB1 p.D917_splice 4 103534740 103534741 8MGBA_CENTRAL_N... 37 Splice_Site_Ins Ins - A rs35795162 uc011cep.1 NFKB1_uc011ceq.... Hybrid_Cap...
NLRP10 p.A58E 11 7984870 7984870 8MGBA_CENTRAL_N... 37 Missense_Mutation SNP G T uc001mfv.1 Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881822 50881823 8MGBA_CENTRAL_N... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUMA1 p.R2012C 11 71715360 71715360 8MGBA_CENTRAL_N... 37 Missense_Mutation SNP G A rs11538639 uc001orl.1 IL18BP_uc009ysu... Hybrid_Cap... view
NUP133 p.A307S 1 229631695 229631695 8MGBA_CENTRAL_N... 37 Missense_Mutation SNP C A uc001htn.2 Hybrid_Cap... view
PAX3 2 223158653 223158653 8MGBA_CENTRAL_N... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.Q1665fs 1 144873963 144873963 8MGBA_CENTRAL_N... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 8MGBA_CENTRAL_N... 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PIK3R1 5 67588022 67588022 8MGBA_CENTRAL_N... 37 Intron SNP C T uc003jva.2 PIK3R1_uc003jvb... Hybrid_Cap... view
PRKCA 17 64298959 64298960 8MGBA_CENTRAL_N... 37 5'UTR Ins - GG rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 8MGBA_CENTRAL_N... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTEN p.I101T 10 89692818 89692818 8MGBA_CENTRAL_N... 37 Missense_Mutation SNP T C uc001kfb.2 Hybrid_Cap... view
PXDN p.G872R 2 1652938 1652938 8MGBA_CENTRAL_N... 37 Missense_Mutation SNP C T uc002qxa.2 Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 8MGBA_CENTRAL_N... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RGL1 p.A180T 1 183849757 183849757 8MGBA_CENTRAL_N... 37 Missense_Mutation SNP G A uc001gqm.2 RGL1_uc010pof.1... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 8MGBA_CENTRAL_N... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KB1 17 58024224 58024225 8MGBA_CENTRAL_N... 37 3'UTR Ins - AA rs67846207 uc002ixy.2 RPS6KB1_uc010dd... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 8MGBA_CENTRAL_N... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SGK223 p.T755fs 8 8197043 8197043 8MGBA_CENTRAL_N... 37 Frame_Shift_Del Del G - rs56187292 uc003wsh.3 Hybrid_Cap...
SHC1 p.P5S 1 154942990 154942990 8MGBA_CENTRAL_N... 37 Missense_Mutation SNP G A uc001ffw.2 SHC1_uc001ffz.1... Hybrid_Cap... view
STK31 7 23872024 23872025 8MGBA_CENTRAL_N... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TEC 4 48139307 48139310 8MGBA_CENTRAL_N... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TLK1 2 171850178 171850179 8MGBA_CENTRAL_N... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 8MGBA_CENTRAL_N... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TOX3 p.M169I 16 52484360 52484360 8MGBA_CENTRAL_N... 37 Missense_Mutation SNP C A uc010vgu.1 TOX3_uc002egw.2... Hybrid_Cap... view
TP53 p.R273C 17 7577121 7577121 8MGBA_CENTRAL_N... 37 Missense_Mutation SNP G A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TRPS1 8 116635872 116635873 8MGBA_CENTRAL_N... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN 2 179391640 179391640 8MGBA_CENTRAL_N... 37 3'UTR Del T - uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
ULK4 p.F101fs 3 41977368 41977368 8MGBA_CENTRAL_N... 37 Frame_Shift_Del Del A - uc003ckv.3 ULK4_uc003ckw.2... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 8MGBA_CENTRAL_N... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...