Annotation Summary for Cell Line: KNS-42  

Cell line primary name: KNS-42
Cell line aliases:
Gender: M
Site Primary: central_nervous_system
Histology: glioma
Hist Subtype1: NS
Notes:
Source: HSRRB
Expression arrays: CASED_p_NCLE_RNA4_HG-U133_Plus_2_F05_383662
SNP arrays: FIEFS_p_NCLE_DNA_Affy5_GenomeWideSNP_6_E05_411002
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in KNS-42

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 KNS42_CENTRAL_N... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM28 8 24211994 24211997 KNS42_CENTRAL_N... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAM29 p.Q794* 4 175899056 175899056 KNS42_CENTRAL_N... 37 Nonsense_Mutation SNP C T uc003iuc.2 ADAM29_uc003iud... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 KNS42_CENTRAL_N... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK1 4 113347609 113347610 KNS42_CENTRAL_N... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 KNS42_CENTRAL_N... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ATR p.H2517L 3 142176551 142176551 KNS42_CENTRAL_N... 37 Missense_Mutation SNP T A uc003eux.3 ATR_uc003euy.1_... Hybrid_Cap... view
BCL3 19 45262965 45262967 KNS42_CENTRAL_N... 37 3'UTR Del CCC - uc010xxe.1 Hybrid_Cap...
BIRC2 p.S152A 11 102221039 102221039 KNS42_CENTRAL_N... 37 Missense_Mutation SNP T G uc001pgy.2 BIRC2_uc010ruq.... Hybrid_Cap... view
BLM p.186_187SK>* 15 91293055 91293057 KNS42_CENTRAL_N... 37 In_Frame_Del Del CAA - uc002bpr.2 BLM_uc010uqh.1_... Hybrid_Cap...
BRIP1 p.G481C 17 59870990 59870990 KNS42_CENTRAL_N... 37 Missense_Mutation SNP C A uc002izk.1 Hybrid_Cap... view
BTG1 12 92537706 92537707 KNS42_CENTRAL_N... 37 3'UTR Ins - T rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
CACNB2 10 18828721 18828722 KNS42_CENTRAL_N... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CDH1 16 68867566 68867566 KNS42_CENTRAL_N... 37 3'UTR SNP C T uc002ewg.1 CDH1_uc010vlj.1... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 KNS42_CENTRAL_N... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 KNS42_CENTRAL_N... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CYP1B1 2 38297654 38297655 KNS42_CENTRAL_N... 37 3'UTR Ins - A rs9341258 uc002rqo.2 Hybrid_Cap...
CYP27B1 p.R153L 12 58159211 58159211 KNS42_CENTRAL_N... 37 Missense_Mutation SNP C A uc001spz.1 CYP27B1_uc001sq... Hybrid_Cap... view
EDN1 6 12290729 12290729 KNS42_CENTRAL_N... 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EPHA3 p.G353D 3 89390992 89390992 KNS42_CENTRAL_N... 37 Missense_Mutation SNP G A uc003dqy.2 EPHA3_uc003dqx.... Hybrid_Cap... view
ETV1 7 14028708 14028708 KNS42_CENTRAL_N... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 KNS42_CENTRAL_N... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 KNS42_CENTRAL_N... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 KNS42_CENTRAL_N... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNC p.R2228Q 7 128494226 128494226 KNS42_CENTRAL_N... 37 Missense_Mutation SNP G A uc003vnz.3 FLNC_uc003voa.3... Hybrid_Cap... view
FN1 2 216244182 216244185 KNS42_CENTRAL_N... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FRS2 12 69962808 69962808 KNS42_CENTRAL_N... 37 5'UTR SNP G A uc001suy.2 FRS2_uc001suz.2... Hybrid_Cap... view
GLI1 p.R541C 12 57864144 57864144 KNS42_CENTRAL_N... 37 Missense_Mutation SNP C T uc001snx.2 GLI1_uc009zpq.2... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 KNS42_CENTRAL_N... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 KNS42_CENTRAL_N... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
HERC2 15 28362342 28362342 KNS42_CENTRAL_N... 37 Intron SNP G C uc001zbj.2 HERC2_uc001zbi.... Hybrid_Cap... view
HNF1A 12 121434630 121434631 KNS42_CENTRAL_N... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSF1 8 145538019 145538019 KNS42_CENTRAL_N... 37 3'UTR SNP G A uc003zbt.3 HSF1_uc003zbu.3... Hybrid_Cap... view
ILK 11 6630029 6630029 KNS42_CENTRAL_N... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGB1 10 33197131 33197134 KNS42_CENTRAL_N... 37 Intron Del CTTT - rs116966876 uc001iwq.3 ITGB1_uc001iwp.... Hybrid_Cap...
KSR1 p.G37R 17 25904665 25904665 KNS42_CENTRAL_N... 37 Missense_Mutation SNP G A uc010crg.2 KSR1_uc002gzj.1... Hybrid_Cap... view
LATS2 13 21620222 21620223 KNS42_CENTRAL_N... 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
MAMDC4 p.D416Y 9 139749754 139749754 KNS42_CENTRAL_N... 37 Missense_Mutation SNP G T uc004cjs.2 MAMDC4_uc011mej... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 KNS42_CENTRAL_N... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 KNS42_CENTRAL_N... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K10 p.T745fs 19 40719820 40719820 KNS42_CENTRAL_N... 37 Frame_Shift_Del Del C - uc002ona.2 MAP3K10_uc002on... Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 KNS42_CENTRAL_N... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K3 17 61771344 61771344 KNS42_CENTRAL_N... 37 3'UTR SNP T C uc002jbe.2 MAP3K3_uc002jbf... Hybrid_Cap... view
MAP3K9 p.R445C 14 71209302 71209302 KNS42_CENTRAL_N... 37 Missense_Mutation SNP G A uc001xml.2 MAP3K9_uc010ttk... Hybrid_Cap... view
MMP20 p.L407F 11 102464198 102464198 KNS42_CENTRAL_N... 37 Missense_Mutation SNP G A uc001phc.2 Hybrid_Cap... view
MYLK p.E1066del 3 123419117 123419119 KNS42_CENTRAL_N... 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
NACA p.P583T 12 57113567 57113567 KNS42_CENTRAL_N... 37 Missense_Mutation SNP G T uc009zoy.1 NACA_uc001slz.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 KNS42_CENTRAL_N... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 KNS42_CENTRAL_N... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 KNS42_CENTRAL_N... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 KNS42_CENTRAL_N... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NPRL2 3 50384978 50384978 KNS42_CENTRAL_N... 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NPRL2 p.G272R 3 50385748 50385748 KNS42_CENTRAL_N... 37 Missense_Mutation SNP C T uc003daj.1 ZMYND10_uc003da... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881820 50881821 KNS42_CENTRAL_N... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR4A3 9 102596058 102596058 KNS42_CENTRAL_N... 37 Intron SNP A C uc004bai.2 NR4A3_uc004bae.... Hybrid_Cap... view
NUP153 p.G1466C 6 17616798 17616798 KNS42_CENTRAL_N... 37 Missense_Mutation SNP C A uc011dje.1 NUP153_uc003ncd... Hybrid_Cap... view
P2RX7 p.I315T 12 121613253 121613253 KNS42_CENTRAL_N... 37 Missense_Mutation SNP T C uc001tzm.2 P2RX7_uc001tzn.... Hybrid_Cap... view
PAX3 2 223158653 223158653 KNS42_CENTRAL_N... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDCD11 p.P1487L 10 105200510 105200510 KNS42_CENTRAL_N... 37 Missense_Mutation SNP C T uc001kwy.1 Hybrid_Cap... view
PDE4DIP p.L601fs 1 144915624 144915624 KNS42_CENTRAL_N... 37 Frame_Shift_Del Del G - rs1778112 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.E243fs 1 144923729 144923729 KNS42_CENTRAL_N... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PGR 11 100933598 100933599 KNS42_CENTRAL_N... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PHIP p.V825I 6 79695133 79695133 KNS42_CENTRAL_N... 37 Missense_Mutation SNP C T uc003pir.2 PHIP_uc003piq.2... Hybrid_Cap... view
PKHD1 p.V142A 6 51941097 51941097 KNS42_CENTRAL_N... 37 Missense_Mutation SNP A G uc003pah.1 PKHD1_uc003pai.... Hybrid_Cap... view
PRKCA 17 64298959 64298960 KNS42_CENTRAL_N... 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKCB p.Q433H 16 24183650 24183650 KNS42_CENTRAL_N... 37 Missense_Mutation SNP G C uc002dme.2 PRKCB_uc002dmd.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 KNS42_CENTRAL_N... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTPRC p.R671Q 1 198701472 198701472 KNS42_CENTRAL_N... 37 Missense_Mutation SNP G A uc001gur.1 PTPRC_uc001gus.... Hybrid_Cap... view
RAG1 p.R112C 11 36595188 36595188 KNS42_CENTRAL_N... 37 Missense_Mutation SNP C T uc001mwu.3 RAG1_uc001mwt.2... Hybrid_Cap... view
RET p.V637M 10 43609957 43609957 KNS42_CENTRAL_N... 37 Missense_Mutation SNP G A uc001jal.2 RET_uc001jak.1_... Hybrid_Cap... view
RGL2 6 33259806 33259806 KNS42_CENTRAL_N... 37 3'UTR SNP T G uc003odv.2 WDR46_uc003ods.... Hybrid_Cap... view
RNASEL 1 182556057 182556057 KNS42_CENTRAL_N... 37 5'UTR SNP A G uc001gpj.1 RNASEL_uc009wxz... Hybrid_Cap... view
RPN1 3 128369705 128369705 KNS42_CENTRAL_N... 37 5'UTR SNP C T uc003ekr.1 RPN1_uc011bkq.1... Hybrid_Cap... view
RPS6KL1 14 75373626 75373627 KNS42_CENTRAL_N... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SMARCA4 p.P285T 19 11097673 11097673 KNS42_CENTRAL_N... 37 Missense_Mutation SNP C A uc010dxo.2 SMARCA4_uc002mq... Hybrid_Cap... view
SPEN p.K962T 1 16255620 16255620 KNS42_CENTRAL_N... 37 Missense_Mutation SNP A C uc001axk.1 SPEN_uc010obp.1... Hybrid_Cap... view
STK25 2 242435659 242435662 KNS42_CENTRAL_N... 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 KNS42_CENTRAL_N... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STK4 p.R117Q 20 43610574 43610574 KNS42_CENTRAL_N... 37 Missense_Mutation SNP G A uc002xnb.2 STK4_uc010ggx.2... Hybrid_Cap... view
TAF1L p.G1740R 9 32630360 32630360 KNS42_CENTRAL_N... 37 Missense_Mutation SNP C T uc003zrg.1 Hybrid_Cap... view
TBCK p.A463V 4 107156487 107156487 KNS42_CENTRAL_N... 37 Missense_Mutation SNP G A uc010ilv.2 TBCK_uc003hyb.2... Hybrid_Cap... view
TEC 4 48139307 48139310 KNS42_CENTRAL_N... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TGFB2 1 218519928 218519929 KNS42_CENTRAL_N... 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TMEM123 11 102269398 102269398 KNS42_CENTRAL_N... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TP53 p.R342* 17 7574003 7574003 KNS42_CENTRAL_N... 37 Nonsense_Mutation SNP G A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 KNS42_CENTRAL_N... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TTN p.R29992C 2 179406126 179406126 KNS42_CENTRAL_N... 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
UBE3B 12 109947357 109947358 KNS42_CENTRAL_N... 37 Intron Ins - T uc001top.2 UBE3B_uc001toq.... Hybrid_Cap...
VDR p.M246I 12 48249580 48249580 KNS42_CENTRAL_N... 37 Missense_Mutation SNP C T uc001rql.2 VDR_uc001rqm.2_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 KNS42_CENTRAL_N... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
ZNF217 p.P823L 20 52192835 52192835 KNS42_CENTRAL_N... 37 Missense_Mutation SNP G A uc002xwq.3 ZNF217_uc010gij... Hybrid_Cap... view
ZNF276 16 89806550 89806550 KNS42_CENTRAL_N... 37 3'UTR SNP T G uc002fos.3 ZNF276_uc010ciq... Hybrid_Cap... view
ZNF384 p.A554V 12 6776953 6776953 KNS42_CENTRAL_N... 37 Missense_Mutation SNP G A uc010sfh.1 ZNF384_uc001qpz... Hybrid_Cap... view