Annotation Summary for Cell Line: SF126  

Cell line primary name: SF126
Cell line aliases:
Gender:
Site Primary: central_nervous_system
Histology: glioma
Hist Subtype1: astrocytoma
Notes:
Source: HSRRB
Expression arrays: AGENT_p_NCLE_RNA6_HG-U133_Plus_2_C07_436540
SNP arrays: PODIA_p_NCLE_DNAAffy7_GenomeWideSNP_6_D11_437418
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SF126

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ABCC4 p.R503Q 13 95838992 95838992 SF126_CENTRAL_N... 37 Missense_Mutation SNP C T uc001vmd.3 ABCC4_uc010afk.... Hybrid_Cap... view
ADAM17 2 9630245 9630245 SF126_CENTRAL_N... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 SF126_CENTRAL_N... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTSL3 15 84706627 84706627 SF126_CENTRAL_N... 37 3'UTR SNP G A uc002bjz.3 ADAMTSL3_uc010b... Hybrid_Cap... view
AFF3 p.E711K 2 100210067 100210067 SF126_CENTRAL_N... 37 Missense_Mutation SNP C T uc002taf.2 AFF3_uc002tag.2... Hybrid_Cap... view
AIM1 p.G1452A 6 107001436 107001436 SF126_CENTRAL_N... 37 Missense_Mutation SNP G C uc003prh.2 AIM1_uc003pri.2... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 SF126_CENTRAL_N... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK1 4 113347609 113347610 SF126_CENTRAL_N... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK3 p.G1673R 15 85406783 85406783 SF126_CENTRAL_N... 37 Missense_Mutation SNP G C uc002ble.2 ALPK3_uc010upc.... Hybrid_Cap... view
ATF2 p.E125E 2 175982790 175982790 SF126_CENTRAL_N... 37 Silent SNP C T uc002ujl.2 ATF2_uc010fqv.2... Hybrid_Cap... view
ATR p.R1653* 3 142226847 142226847 SF126_CENTRAL_N... 37 Nonsense_Mutation SNP G A uc003eux.3 Hybrid_Cap... view
AURKC 19 57742494 57742507 SF126_CENTRAL_N... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BCR 22 23631813 23631814 SF126_CENTRAL_N... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BRCA1 p.L246V 17 41246812 41246812 SF126_CENTRAL_N... 37 Missense_Mutation SNP A C rs28897675 uc002ict.2 BRCA1_uc010whp.... Hybrid_Cap... view
CARS p.P57L 11 3069087 3069087 SF126_CENTRAL_N... 37 Missense_Mutation SNP G A uc001lxf.2 CARS_uc001lxe.2... Hybrid_Cap... view
CDC42BPA p.D347Y 1 227333294 227333294 SF126_CENTRAL_N... 37 Missense_Mutation SNP C A uc001hqr.2 CDC42BPA_uc001h... Hybrid_Cap... view
CDK11B 1 1654066 1654068 SF126_CENTRAL_N... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 SF126_CENTRAL_N... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 SF126_CENTRAL_N... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
DOCK3 p.N1302S 3 51378806 51378806 SF126_CENTRAL_N... 37 Missense_Mutation SNP A G uc011bds.1 Hybrid_Cap... view
EPHB6 p.L284M 7 142562408 142562408 SF126_CENTRAL_N... 37 Missense_Mutation SNP C A uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap... view
EPHB6 7 142568771 142568771 SF126_CENTRAL_N... 37 3'UTR Del C - uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap...
ETV1 7 14028708 14028708 SF126_CENTRAL_N... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FANCG p.W122C 9 35078282 35078282 SF126_CENTRAL_N... 37 Missense_Mutation SNP C G uc003zwb.1 FANCG_uc003zwa.... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 SF126_CENTRAL_N... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FIP1L1 p.A455V 4 54319165 54319165 SF126_CENTRAL_N... 37 Missense_Mutation SNP C T uc003gzy.2 PDGFRA_uc003haa... Hybrid_Cap... view
FLI1 11 128638217 128638217 SF126_CENTRAL_N... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
GHR p.P300S 5 42718176 42718176 SF126_CENTRAL_N... 37 Missense_Mutation SNP C T uc003jmt.2 GHR_uc011cpq.1_... Hybrid_Cap... view
GLYATL2 p.P135T 11 58604561 58604561 SF126_CENTRAL_N... 37 Missense_Mutation SNP G T uc001nnd.3 GLYATL2_uc009ym... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 SF126_CENTRAL_N... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 SF126_CENTRAL_N... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 SF126_CENTRAL_N... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HECW1 p.R525Q 7 43484345 43484345 SF126_CENTRAL_N... 37 Missense_Mutation SNP G A uc003tid.1 HECW1_uc011kbi.... Hybrid_Cap... view
HNF1A 12 121434630 121434631 SF126_CENTRAL_N... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSPB1 p.R188W 7 75933433 75933434 SF126_CENTRAL_N... 37 Missense_Mutation DNP GC TT uc003uew.2 HSPB1_uc010ldj.... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 SF126_CENTRAL_N... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAK3 p.I991V 19 17942044 17942044 SF126_CENTRAL_N... 37 Missense_Mutation SNP T C uc002nhn.3 JAK3_uc010ebh.2... Hybrid_Cap... view
JUND p.S251N 19 18391543 18391543 SF126_CENTRAL_N... 37 Missense_Mutation SNP C T uc002nip.2 Hybrid_Cap... view
KIAA2022 p.Q476H X 73962964 73962964 SF126_CENTRAL_N... 37 Missense_Mutation SNP C A uc004eby.2 Hybrid_Cap... view
KLK7 19 51480672 51480675 SF126_CENTRAL_N... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KSR1 p.G206R 17 25915542 25915542 SF126_CENTRAL_N... 37 Missense_Mutation SNP G A uc010crg.2 KSR1_uc002gzj.1... Hybrid_Cap... view
LDLR p.T761R 19 11233991 11233991 SF126_CENTRAL_N... 37 Missense_Mutation SNP C G uc002mqk.3 LDLR_uc010xlk.1... Hybrid_Cap... view
LRP1 p.V1293L 12 57569775 57569775 SF126_CENTRAL_N... 37 Missense_Mutation SNP G T uc001snd.2 Hybrid_Cap... view
LTK p.R673W 15 41797171 41797171 SF126_CENTRAL_N... 37 Missense_Mutation SNP G A uc001zoa.3 LTK_uc001zob.3_... Hybrid_Cap... view
MAF 16 79628537 79628537 SF126_CENTRAL_N... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAF 16 79628325 79628325 SF126_CENTRAL_N... 37 3'UTR Del A - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 SF126_CENTRAL_N... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 SF126_CENTRAL_N... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 SF126_CENTRAL_N... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 SF126_CENTRAL_N... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MST1R p.R142C 3 49940619 49940619 SF126_CENTRAL_N... 37 Missense_Mutation SNP G A uc003cxy.3 MST1R_uc011bdd.... Hybrid_Cap... view
N4BP2 p.H782R 4 40122076 40122076 SF126_CENTRAL_N... 37 Missense_Mutation SNP A G uc003guy.3 N4BP2_uc010ifq.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 SF126_CENTRAL_N... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SF126_CENTRAL_N... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NFATC1 18 77287653 77287654 SF126_CENTRAL_N... 37 3'UTR Del AA - uc010xfg.1 NFATC1_uc002lnd... Hybrid_Cap...
NPR1 1 153665919 153665920 SF126_CENTRAL_N... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 SF126_CENTRAL_N... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUP214 p.R1338W 9 134072893 134072893 SF126_CENTRAL_N... 37 Missense_Mutation SNP C T uc004cag.2 NUP214_uc004cah... Hybrid_Cap... view
PASK p.I1152fs 2 242051752 242051753 SF126_CENTRAL_N... 37 Frame_Shift_Ins Ins - T uc010fzl.1 PASK_uc010zol.1... Hybrid_Cap...
PAX3 2 223158653 223158653 SF126_CENTRAL_N... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.Q1665fs 1 144873963 144873963 SF126_CENTRAL_N... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 SF126_CENTRAL_N... 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 SF126_CENTRAL_N... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3C2G 12 18800990 18800990 SF126_CENTRAL_N... 37 3'UTR Del A - rs16914368 uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 SF126_CENTRAL_N... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKG1 10 52751088 52751089 SF126_CENTRAL_N... 37 5'UTR Ins - GCT rs67900156;rs71029335 uc001jjm.2 PRKG1_uc010qhp.... Hybrid_Cap...
PTEN p.G129R 10 89692901 89692901 SF126_CENTRAL_N... 37 Missense_Mutation SNP G A uc001kfb.2 Hybrid_Cap... view
RAPGEF2 4 160189200 160189201 SF126_CENTRAL_N... 37 5'UTR Ins - T rs72011511 uc003iqg.3 Hybrid_Cap...
RBPJ 4 26431822 26431822 SF126_CENTRAL_N... 37 Intron Del A - rs76214390 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 SF126_CENTRAL_N... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RIPK4 p.R699Q 21 43161257 43161257 SF126_CENTRAL_N... 37 Missense_Mutation SNP C T uc002yzn.1 Hybrid_Cap... view
RPS6KA4 p.R499W 11 64136984 64136984 SF126_CENTRAL_N... 37 Missense_Mutation SNP C T uc001oae.2 RPS6KA4_uc001oa... Hybrid_Cap... view
SLC22A3 p.P203Q 6 160828147 160828147 SF126_CENTRAL_N... 37 Missense_Mutation SNP C A uc003qti.2 SLC22A3_uc011ef... Hybrid_Cap... view
TCF21 6 134210497 134210498 SF126_CENTRAL_N... 37 5'UTR Ins - TCTC rs35199378 uc003qei.3 TCF21_uc003qej.... Hybrid_Cap...
TLE1 9 84202842 84202843 SF126_CENTRAL_N... 37 Intron Ins - CATCCC uc004alz.2 TLE1_uc004aly.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 SF126_CENTRAL_N... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TP63 3 189507518 189507519 SF126_CENTRAL_N... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TP63 3 189612392 189612392 SF126_CENTRAL_N... 37 3'UTR SNP C T uc003fry.2 TP63_uc003frz.2... Hybrid_Cap... view
TRIM33 1 114940215 114940216 SF126_CENTRAL_N... 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRPM6 9 77442621 77442621 SF126_CENTRAL_N... 37 Intron SNP G C uc004ajl.1 TRPM6_uc004ajk.... Hybrid_Cap... view
TRPS1 8 116635872 116635873 SF126_CENTRAL_N... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
UBR5 p.L710fs 8 103324592 103324592 SF126_CENTRAL_N... 37 Frame_Shift_Del Del A - uc003ykr.1 UBR5_uc003yks.1... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 SF126_CENTRAL_N... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WNK1 p.TSS1848del 12 1003758 1003766 SF126_CENTRAL_N... 37 In_Frame_Del Del CAACT... - uc001qio.3 WNK1_uc001qip.3... Hybrid_Cap...