Annotation Summary for Cell Line: NCI-H520  

Cell line primary name: NCI-H520
Cell line aliases: H520
Gender: M
Site Primary: lung
Histology: carcinoma
Hist Subtype1: squamous_cell_carcinoma
Notes:
Source: ATCC
Expression arrays: BRAKE_p_NCLE_RNA2_HG-U133_Plus_2_D02_241116
SNP arrays: LIMPS_p_NCLE_DNA2N_GenomeWideSNP_6_H02_246780
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in NCI-H520

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 NCIH520_LUNG 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ACVR1B p.A423T 12 52380609 52380609 NCIH520_LUNG 37 Missense_Mutation SNP G A uc010snn.1 ACVR1B_uc001rzl... Hybrid_Cap... view
ADAM17 2 9630245 9630245 NCIH520_LUNG 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 NCIH520_LUNG 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AFF3 p.R60K 2 100625344 100625344 NCIH520_LUNG 37 Missense_Mutation SNP C T uc002taf.2 AFF3_uc002tag.2... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 NCIH520_LUNG 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.K267I 7 91624984 91624984 NCIH520_LUNG 37 Missense_Mutation SNP A T uc003ulg.2 AKAP9_uc003uld.... Hybrid_Cap... view
AKAP9 p.1335_1336insQ 7 91652178 91652179 NCIH520_LUNG 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 NCIH520_LUNG 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
AMHR2 p.G103V 12 53818568 53818568 NCIH520_LUNG 37 Missense_Mutation SNP G T uc001scx.1 AMHR2_uc009zmy.... Hybrid_Cap... view
ATM p.P383A 11 108119741 108119741 NCIH520_LUNG 37 Missense_Mutation SNP C G uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap... view
CARD11 p.H527N 7 2969700 2969700 NCIH520_LUNG 37 Missense_Mutation SNP G T uc003smv.2 Hybrid_Cap... view
CDH11 p.V634V 16 64981995 64981995 NCIH520_LUNG 37 Silent SNP T A uc002eoi.2 CDH11_uc010cdn.... Hybrid_Cap... view
CDK11B 1 1654066 1654068 NCIH520_LUNG 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDKN2A 9 21974693 21974693 NCIH520_LUNG 37 Intron Del C - uc003zpl.2 MTAP_uc003zpi.1... Hybrid_Cap...
CHD9 p.S2872L 16 53358728 53358728 NCIH520_LUNG 37 Missense_Mutation SNP C T uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 NCIH520_LUNG 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 3 1339681 1339686 NCIH520_LUNG 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CREBBP p.R1446C 16 3788618 3788618 NCIH520_LUNG 37 Missense_Mutation SNP G A uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CSMD3 p.P2727T 8 113317037 113317037 NCIH520_LUNG 37 Missense_Mutation SNP G T uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSNK1A1 p.R214* 5 148892673 148892673 NCIH520_LUNG 37 Nonsense_Mutation SNP G A uc003lqw.1 CSNK1A1_uc011dc... Hybrid_Cap... view
DACH1 13 72014625 72014626 NCIH520_LUNG 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DNAH8 p.Q1047K 6 38791407 38791407 NCIH520_LUNG 37 Missense_Mutation SNP C A uc003ooe.1 Hybrid_Cap... view
EHBP1 2 62998744 62998744 NCIH520_LUNG 37 Intron SNP G A uc002sby.2 EHBP1_uc010fcp.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 NCIH520_LUNG 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ETV1 7 14028708 14028708 NCIH520_LUNG 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FLI1 11 128638222 128638223 NCIH520_LUNG 37 Intron Ins - T uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNC p.G722S 7 128482327 128482327 NCIH520_LUNG 37 Missense_Mutation SNP G A uc003vnz.3 FLNC_uc003voa.3... Hybrid_Cap... view
FN1 2 216244182 216244185 NCIH520_LUNG 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GLYATL2 11 58601858 58601858 NCIH520_LUNG 37 3'UTR Del T - uc001nnd.3 GLYATL2_uc009ym... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 NCIH520_LUNG 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 NCIH520_LUNG 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIN2B p.K1156E 12 13716706 13716706 NCIH520_LUNG 37 Missense_Mutation SNP T C uc001rbt.2 Hybrid_Cap... view
GUCY2C 12 14827464 14827466 NCIH520_LUNG 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
ILK 11 6630029 6630029 NCIH520_LUNG 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
IRAK3 p.R56H 12 66597524 66597524 NCIH520_LUNG 37 Missense_Mutation SNP G A uc001sth.2 IRAK3_uc010ssy.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 NCIH520_LUNG 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
LRP1B p.L509F 2 141812710 141812710 NCIH520_LUNG 37 Missense_Mutation SNP C A uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
MAF 16 79628537 79628537 NCIH520_LUNG 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 NCIH520_LUNG 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K7 6 91246267 91246267 NCIH520_LUNG 37 Intron SNP G A rs114677180 uc003pnz.1 MAP3K7_uc003pny... Hybrid_Cap... view
MAPK14 6 36076345 36076354 NCIH520_LUNG 37 3'UTR Del GTGTG... - rs80147786 uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MAPK4 18 48190307 48190307 NCIH520_LUNG 37 5'UTR SNP G C uc002lev.2 MAPK4_uc010xdm.... Hybrid_Cap... view
MDM4 p.V226M 1 204513666 204513666 NCIH520_LUNG 37 Missense_Mutation SNP G A uc001hba.2 MDM4_uc001hbd.1... Hybrid_Cap... view
MLH1 3 37092174 37092176 NCIH520_LUNG 37 3'UTR Del TTC - uc003cgl.2 MLH1_uc011aye.1... Hybrid_Cap...
MLL3 p.Y816fs 7 151945071 151945072 NCIH520_LUNG 37 Frame_Shift_Ins Ins - T uc003wla.2 Hybrid_Cap...
MLL3 p.A334V 7 151970801 151970801 NCIH520_LUNG 37 Missense_Mutation SNP G A uc003wla.2 Hybrid_Cap... view
MYO3A p.N839H 10 26436368 26436368 NCIH520_LUNG 37 Missense_Mutation SNP A C uc001isn.2 MYO3A_uc009xko.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 NCIH520_LUNG 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 NCIH520_LUNG 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NPR1 1 153665919 153665920 NCIH520_LUNG 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 NCIH520_LUNG 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NTRK3 p.L5F 15 88799372 88799372 NCIH520_LUNG 37 Missense_Mutation SNP G A uc002bme.1 NTRK3_uc002bmh.... Hybrid_Cap... view
PAX3 2 223158653 223158653 NCIH520_LUNG 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAXIP1 p.Q437* 7 154760602 154760602 NCIH520_LUNG 37 Nonsense_Mutation SNP G A uc003wlp.2 PAXIP1_uc003wlq... Hybrid_Cap... view
PDE4DIP p.E243fs 1 144923729 144923729 NCIH520_LUNG 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PI4KA p.R1964Q 22 21065005 21065005 NCIH520_LUNG 37 Missense_Mutation SNP C T uc002zsz.3 PI4KA_uc010gsp.... Hybrid_Cap... view
PIK3C2B p.L555V 1 204426906 204426906 NCIH520_LUNG 37 Missense_Mutation SNP G C uc001haw.2 PIK3C2B_uc010pq... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 NCIH520_LUNG 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3C2G 12 18800990 18800990 NCIH520_LUNG 37 3'UTR Del A - rs16914368 uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PKN1 p.V838F 19 14581444 14581444 NCIH520_LUNG 37 Missense_Mutation SNP G T uc002myq.2 PKN1_uc002myp.2... Hybrid_Cap... view
PPP3R1 2 68408023 68408023 NCIH520_LUNG 37 3'UTR SNP C A uc002sei.1 Hybrid_Cap... view
PRKCG p.G588_splice 19 54407997 54407997 NCIH520_LUNG 37 Splice_Site_SNP SNP G C uc010yeg.1 PRKCG_uc002qcq.... Hybrid_Cap... view
RIMS2 p.M388I 8 104927740 104927740 NCIH520_LUNG 37 Missense_Mutation SNP G A uc003yls.2 RIMS2_uc003ylp.... Hybrid_Cap... view
ROCK2 p.G267D 2 11367448 11367448 NCIH520_LUNG 37 Missense_Mutation SNP C T uc002rbd.1 Hybrid_Cap... view
RPGRIP1 p.E236A 14 21771609 21771609 NCIH520_LUNG 37 Missense_Mutation SNP A C uc001wag.2 Hybrid_Cap... view
RPS6KB1 17 58024224 58024225 NCIH520_LUNG 37 3'UTR Ins - AA rs67846207 uc002ixy.2 RPS6KB1_uc010dd... Hybrid_Cap...
RPS6KB2 p.Y291F 11 67200884 67200884 NCIH520_LUNG 37 Missense_Mutation SNP A T uc001old.2 RPS6KB2_uc001ol... Hybrid_Cap... view
RPS6KL1 14 75373626 75373627 NCIH520_LUNG 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
RUNX2 6 45515110 45515113 NCIH520_LUNG 37 3'UTR Del AGAG - uc011dvx.1 RUNX2_uc011dvy.... Hybrid_Cap...
SMC2 p.K177R 9 106862423 106862423 NCIH520_LUNG 37 Missense_Mutation SNP A G uc004bbv.2 SMC2_uc004bbu.1... Hybrid_Cap... view
SSU72 1 1500054 1500054 NCIH520_LUNG 37 Intron SNP C T uc001agd.2 SSU72_uc009vkg.... Hybrid_Cap... view
STK31 7 23872024 23872025 NCIH520_LUNG 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TGFB2 1 218520021 218520021 NCIH520_LUNG 37 5'UTR Del T - uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TMEM123 11 102269398 102269398 NCIH520_LUNG 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TP53 p.W146* 17 7578492 7578492 NCIH520_LUNG 37 Nonsense_Mutation SNP C T uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP73 p.D50Y 1 3599706 3599706 NCIH520_LUNG 37 Missense_Mutation SNP G T uc001akp.2 TP73_uc001akq.2... Hybrid_Cap... view
TPM4 19 16212251 16212251 NCIH520_LUNG 37 3'UTR SNP G A uc002ndi.2 TPM4_uc002ndj.2... Hybrid_Cap... view
TRIM42 p.M219R 3 140401618 140401618 NCIH520_LUNG 37 Missense_Mutation SNP T G uc003eto.1 Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 NCIH520_LUNG 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VEGFC p.L56P 4 177650881 177650881 NCIH520_LUNG 37 Missense_Mutation SNP A G uc003ius.1 Hybrid_Cap... view
VPS13B p.R2126T 8 100712008 100712008 NCIH520_LUNG 37 Missense_Mutation SNP G C uc003yiv.2 VPS13B_uc003yiw... Hybrid_Cap... view
WNK1 p.M540_splice 12 968631 968631 NCIH520_LUNG 37 Splice_Site_SNP SNP G A uc001qio.3 WNK1_uc001qip.3... Hybrid_Cap... view
ZNF331 p.R197Q 19 54080404 54080404 NCIH520_LUNG 37 Missense_Mutation SNP G A uc002qbx.1 ZNF331_uc002qby... Hybrid_Cap... view