Annotation Summary for Cell Line: CHP-212  

Cell line primary name: CHP-212
Cell line aliases:
Gender:
Site Primary: autonomic_ganglia
Histology: neuroblastoma
Hist Subtype1: NS
Notes:
Source: ATCC
Expression arrays: NIECE_p_NCLE_RNA3_HG-U133_Plus_2_G10_296152
SNP arrays: FASTS_p_NCLE_DNAAffy4_S_GenomeWideSNP_6_D02_335262
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in CHP-212

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ACACA 17 35766564 35766564 CHP212_AUTONOMI... 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAM10 15 59041864 59041864 CHP212_AUTONOMI... 37 5'UTR SNP C T uc002afd.1 ADAM10_uc010bgc... Hybrid_Cap... view
ADAM17 2 9630245 9630245 CHP212_AUTONOMI... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 CHP212_AUTONOMI... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 CHP212_AUTONOMI... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 CHP212_AUTONOMI... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 CHP212_AUTONOMI... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ATP13A5 p.W57fs 3 193081962 193081962 CHP212_AUTONOMI... 37 Frame_Shift_Del Del C - uc011bsq.1 Hybrid_Cap...
CACNA1F p.815_815E>EE X 49076224 49076225 CHP212_AUTONOMI... 37 In_Frame_Ins Ins - TCC uc004dnb.2 CACNA1F_uc010ni... Hybrid_Cap...
CACNB2 10 18828721 18828722 CHP212_AUTONOMI... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CDC42BPG 11 64591857 64591857 CHP212_AUTONOMI... 37 3'UTR SNP C T uc001obs.3 Hybrid_Cap... view
CDH3 16 68732390 68732390 CHP212_AUTONOMI... 37 3'UTR SNP G C uc002ewf.2 CDH3_uc010vli.1... Hybrid_Cap... view
CHIC2 4 54876132 54876132 CHP212_AUTONOMI... 37 3'UTR Del C - rs4437313 uc003haj.1 PDGFRA_uc003haa... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 CHP212_AUTONOMI... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 CHP212_AUTONOMI... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
DDR2 1 162750211 162750212 CHP212_AUTONOMI... 37 3'UTR Del TT - uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap...
EDN1 6 12290729 12290729 CHP212_AUTONOMI... 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EEF1D p.A692T 8 144661982 144661982 CHP212_AUTONOMI... 37 Missense_Mutation SNP C T uc003yyq.1 NAPRT1_uc003yym... Hybrid_Cap... view
EP300 22 41574970 41574972 CHP212_AUTONOMI... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA5 4 66189753 66189754 CHP212_AUTONOMI... 37 3'UTR Ins - T rs67487372 uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap...
EPHA6 3 97367230 97367231 CHP212_AUTONOMI... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHB6 7 142568771 142568771 CHP212_AUTONOMI... 37 3'UTR Del C - uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap...
ETV1 7 14028708 14028708 CHP212_AUTONOMI... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FER p.S65S 5 108134078 108134078 CHP212_AUTONOMI... 37 Silent SNP C T uc003kop.1 FER_uc011cve.1_... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 CHP212_AUTONOMI... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 CHP212_AUTONOMI... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 CHP212_AUTONOMI... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 CHP212_AUTONOMI... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 CHP212_AUTONOMI... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 CHP212_AUTONOMI... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 CHP212_AUTONOMI... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
ICK p.PSPL369del 6 52878495 52878506 CHP212_AUTONOMI... 37 In_Frame_Del Del GCAAC... - uc003pbh.2 ICK_uc003pbi.2_... Hybrid_Cap...
ILK 11 6630029 6630029 CHP212_AUTONOMI... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 CHP212_AUTONOMI... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAG1 20 10620140 10620140 CHP212_AUTONOMI... 37 3'UTR SNP G A uc002wnw.2 Hybrid_Cap... view
KLK7 19 51480672 51480675 CHP212_AUTONOMI... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 CHP212_AUTONOMI... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 CHP212_AUTONOMI... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 CHP212_AUTONOMI... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MECOM 3 169381319 169381319 CHP212_AUTONOMI... 37 5'UTR SNP C T uc011bpj.1 MECOM_uc011bpk.... Hybrid_Cap... view
MLLT6 17 36881962 36881962 CHP212_AUTONOMI... 37 3'UTR SNP G C uc002hqi.3 MLLT6_uc002hqk.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 CHP212_AUTONOMI... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 CHP212_AUTONOMI... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAPD3 11 134093835 134093835 CHP212_AUTONOMI... 37 5'UTR SNP G C uc001qhd.1 NCAPD3_uc010scm... Hybrid_Cap... view
NLK p.HH32del 17 26369987 26369992 CHP212_AUTONOMI... 37 In_Frame_Del Del CACCA... - uc010crj.2 NLK_uc010cri.1_... Hybrid_Cap...
NPM1 5 170837734 170837734 CHP212_AUTONOMI... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 CHP212_AUTONOMI... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 CHP212_AUTONOMI... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR3C1 5 142780419 142780419 CHP212_AUTONOMI... 37 Splice_Site_SNP SNP T A uc003lmy.2 NR3C1_uc003lmz.... Hybrid_Cap... view
NRAS p.Q61K 1 115256530 115256530 CHP212_AUTONOMI... 37 Missense_Mutation SNP G T uc009wgu.2 Hybrid_Cap... view
PASK p.P860fs 2 242065751 242065751 CHP212_AUTONOMI... 37 Frame_Shift_Del Del G - uc010fzl.1 PASK_uc010zol.1... Hybrid_Cap...
PAX3 2 223158653 223158653 CHP212_AUTONOMI... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP 1 144852451 144852451 CHP212_AUTONOMI... 37 3'UTR SNP G A uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 CHP212_AUTONOMI... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PPAPDC1B 8 38124630 38124630 CHP212_AUTONOMI... 37 Intron SNP C A uc003xlf.3 PPAPDC1B_uc003x... Hybrid_Cap... view
PPP3R1 p.F15_splice 2 68415824 68415824 CHP212_AUTONOMI... 37 Splice_Site_SNP SNP T A uc002sei.1 Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 CHP212_AUTONOMI... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RARB 3 25638184 25638184 CHP212_AUTONOMI... 37 3'UTR SNP C G uc011awl.1 RARB_uc003cdi.1... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 CHP212_AUTONOMI... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RECQL4 p.R248C 8 145741761 145741761 CHP212_AUTONOMI... 37 Missense_Mutation SNP G A uc003zdj.2 LRRC14_uc003zdk... Hybrid_Cap... view
RPS6KB1 17 58024224 58024225 CHP212_AUTONOMI... 37 3'UTR Ins - AA rs67846207 uc002ixy.2 RPS6KB1_uc010dd... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 CHP212_AUTONOMI... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SEPT9 17 75494787 75494788 CHP212_AUTONOMI... 37 3'UTR Ins - C rs5822173 uc002jts.3 SEPT9_uc010wtk.... Hybrid_Cap...
SPTAN1 p.D2444N 9 131395509 131395509 CHP212_AUTONOMI... 37 Missense_Mutation SNP G A uc004bvm.3 SPTAN1_uc004bvl... Hybrid_Cap... view
STK25 2 242435659 242435662 CHP212_AUTONOMI... 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 CHP212_AUTONOMI... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STK32B p.R27R 4 5141660 5141660 CHP212_AUTONOMI... 37 Silent SNP G A uc003gih.1 STK32B_uc010ida... Hybrid_Cap... view
TAB1 22 39826472 39826472 CHP212_AUTONOMI... 37 3'UTR SNP C T uc003axr.2 TAB1_uc003axt.2... Hybrid_Cap... view
TGFB2 1 218519928 218519929 CHP212_AUTONOMI... 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TP63 p.I675I 3 189612273 189612273 CHP212_AUTONOMI... 37 Silent SNP C A uc003fry.2 TP63_uc003frz.2... Hybrid_Cap... view
TRIM33 1 114940215 114940216 CHP212_AUTONOMI... 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRPS1 8 116635872 116635873 CHP212_AUTONOMI... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN p.R18371H 2 179453636 179453636 CHP212_AUTONOMI... 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN 2 179603903 179603903 CHP212_AUTONOMI... 37 Intron SNP G T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 CHP212_AUTONOMI... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
XPO4 p.S498_splice 13 21382722 21382722 CHP212_AUTONOMI... 37 Splice_Site_SNP SNP T A uc001unq.3 Hybrid_Cap... view