Annotation Summary for Cell Line: NCI-H2227  

Cell line primary name: NCI-H2227
Cell line aliases: H2227
Gender: M
Site Primary: lung
Histology: carcinoma
Hist Subtype1: small_cell_carcinoma
Notes:
Source: ATCC
Expression arrays: AGENT_p_NCLE_RNA6_HG-U133_Plus_2_B03_436620
SNP arrays: PODIA_p_NCLE_DNAAffy7_GenomeWideSNP_6_A02_437560
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in NCI-H2227

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 NCIH2227_LUNG 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM17 2 9630245 9630245 NCIH2227_LUNG 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 NCIH2227_LUNG 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 NCIH2227_LUNG 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP4 p.Q771P X 49957052 49957052 NCIH2227_LUNG 37 Missense_Mutation SNP T G rs61751432 uc004dow.1 AKAP4_uc004dov.... Hybrid_Cap... view
AKAP9 p.1335_1336insQ 7 91652178 91652179 NCIH2227_LUNG 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ATF2 p.H331L 2 175957982 175957982 NCIH2227_LUNG 37 Missense_Mutation SNP T A uc002ujl.2 ATF2_uc010fqv.2... Hybrid_Cap... view
ATF2 p.K4R 2 176001161 176001161 NCIH2227_LUNG 37 Missense_Mutation SNP T C uc002ujl.2 ATF2_uc010fqv.2... Hybrid_Cap... view
ATP11A p.H1146fs 13 113536240 113536241 NCIH2227_LUNG 37 Frame_Shift_Del Del CT - uc001vsj.3 ATP11A_uc001vsi... Hybrid_Cap...
AURKC 19 57742494 57742507 NCIH2227_LUNG 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BMP4 14 54416602 54416602 NCIH2227_LUNG 37 3'UTR Del T - rs76335800 uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap...
BRAF p.A320S 7 140500184 140500184 NCIH2227_LUNG 37 Missense_Mutation SNP C A uc003vwc.3 Hybrid_Cap... view
CABC1 1 227171585 227171585 NCIH2227_LUNG 37 Intron Del T - uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CDK11B 1 1654066 1654068 NCIH2227_LUNG 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 NCIH2227_LUNG 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN5 p.P906S 11 100179186 100179186 NCIH2227_LUNG 37 Missense_Mutation SNP C T uc001pga.2 CNTN5_uc001pfz.... Hybrid_Cap... view
CNTN6 3 1339681 1339686 NCIH2227_LUNG 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 NCIH2227_LUNG 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CSNK1G1 15 64506332 64506332 NCIH2227_LUNG 37 Intron SNP G C uc002anh.1 CSNK1G1_uc002an... Hybrid_Cap... view
CSNK1G2 19 1980360 1980361 NCIH2227_LUNG 37 3'UTR Del CA - uc002lul.3 CSNK1G2_uc010ds... Hybrid_Cap...
DACH1 13 72014625 72014626 NCIH2227_LUNG 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DYRK1A 21 38884966 38884967 NCIH2227_LUNG 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
ETV1 7 14028708 14028708 NCIH2227_LUNG 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FBN1 p.K2460R 15 48717640 48717640 NCIH2227_LUNG 37 Missense_Mutation SNP T C uc001zwx.1 FBN1_uc010beo.1... Hybrid_Cap... view
FBN2 p.W1033R 5 127681169 127681169 NCIH2227_LUNG 37 Missense_Mutation SNP A T uc003kuu.2 FBN2_uc003kuv.2... Hybrid_Cap... view
FGFR1 8 38281806 38281806 NCIH2227_LUNG 37 Intron SNP A T uc003xlp.2 FGFR1_uc011lbo.... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 NCIH2227_LUNG 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 NCIH2227_LUNG 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 NCIH2227_LUNG 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNC p.E2265V 7 128494533 128494533 NCIH2227_LUNG 37 Missense_Mutation SNP A T uc003vnz.3 FLNC_uc003voa.3... Hybrid_Cap... view
FN1 2 216244182 216244185 NCIH2227_LUNG 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GH1 p.P159T 17 61994848 61994848 NCIH2227_LUNG 37 Missense_Mutation SNP G T uc002jdj.2 GH1_uc002jdi.2_... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 NCIH2227_LUNG 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 NCIH2227_LUNG 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 NCIH2227_LUNG 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HECW1 7 43477800 43477800 NCIH2227_LUNG 37 Intron SNP C A uc003tid.1 HECW1_uc011kbi.... Hybrid_Cap... view
HGF p.R328H 7 81358978 81358978 NCIH2227_LUNG 37 Missense_Mutation SNP C T uc003uhl.2 HGF_uc003uhm.2_... Hybrid_Cap... view
HNF1A 12 121434630 121434631 NCIH2227_LUNG 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 12 104341645 104341648 NCIH2227_LUNG 37 3'UTR Del ACTG - rs2307842 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
ILK 11 6630029 6630029 NCIH2227_LUNG 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INSRR p.V1156M 1 156811518 156811518 NCIH2227_LUNG 37 Missense_Mutation SNP C T uc010pht.1 NTRK1_uc001fqf.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 NCIH2227_LUNG 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAG1 p.E70D 20 10653526 10653526 NCIH2227_LUNG 37 Missense_Mutation SNP C A uc002wnw.2 Hybrid_Cap... view
KALRN p.R2411L 3 124397075 124397075 NCIH2227_LUNG 37 Missense_Mutation SNP G T rs35729834 uc003ehg.2 KALRN_uc003ehk.... Hybrid_Cap... view
KDSR 18 60998948 60998948 NCIH2227_LUNG 37 3'UTR SNP T A uc010dpw.2 KDSR_uc010xem.1... Hybrid_Cap... view
KLK7 19 51480672 51480675 NCIH2227_LUNG 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LATS1 p.P250S 6 150005477 150005477 NCIH2227_LUNG 37 Missense_Mutation SNP G A uc003qmu.1 LATS1_uc010kif.... Hybrid_Cap... view
LMNB1 5 126172240 126172240 NCIH2227_LUNG 37 3'UTR SNP T G uc003kud.1 LMNB1_uc010jdb.... Hybrid_Cap... view
LRRK1 p.A537_splice 15 101561256 101561256 NCIH2227_LUNG 37 Splice_Site_SNP SNP A C uc002bwr.2 LRRK1_uc010usb.... Hybrid_Cap... view
MAF 16 79628325 79628325 NCIH2227_LUNG 37 3'UTR Del A - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 NCIH2227_LUNG 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 NCIH2227_LUNG 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 NCIH2227_LUNG 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 NCIH2227_LUNG 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MARK1 p.A728P 1 220835299 220835299 NCIH2227_LUNG 37 Missense_Mutation SNP G C uc009xdw.2 MARK1_uc001hmn.... Hybrid_Cap... view
MAST1 p.R940* 19 12979924 12979924 NCIH2227_LUNG 37 Nonsense_Mutation SNP C T uc002mvm.2 Hybrid_Cap... view
MCM3AP 21 47666925 47666925 NCIH2227_LUNG 37 Intron SNP G C uc002zir.1 MCM3APAS_uc002z... Hybrid_Cap... view
MCM3APAS 21 47671275 47671276 NCIH2227_LUNG 37 3'UTR Ins - AAT rs67797185 uc002zin.2 MCM3APAS_uc002z... Hybrid_Cap...
MMP2 16 55539562 55539562 NCIH2227_LUNG 37 3'UTR SNP C T uc002ehz.3 MMP2_uc010vhd.1... Hybrid_Cap... view
MSH3 p.PPA66del 5 79950742 79950750 NCIH2227_LUNG 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MTUS2 p.R892_splice 13 29855840 29855840 NCIH2227_LUNG 37 Splice_Site_SNP SNP G T uc001usl.3 Hybrid_Cap... view
MYH10 p.V684I 17 8424511 8424511 NCIH2227_LUNG 37 Missense_Mutation SNP C T uc002glm.2 MYH10_uc002gll.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 NCIH2227_LUNG 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 NCIH2227_LUNG 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 NCIH2227_LUNG 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 NCIH2227_LUNG 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NOTCH4 p.16_16L>LL 6 32191658 32191659 NCIH2227_LUNG 37 In_Frame_Ins Ins - AGC rs67287835 uc003obb.2 NOTCH4_uc011dpu... Hybrid_Cap...
NPR1 1 153665919 153665920 NCIH2227_LUNG 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 NCIH2227_LUNG 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NTRK3 p.V704D 15 88472444 88472444 NCIH2227_LUNG 37 Missense_Mutation SNP A T uc002bme.1 NTRK3_uc002bmh.... Hybrid_Cap... view
ODZ1 p.R2696L X 123514497 123514498 NCIH2227_LUNG 37 Missense_Mutation DNP CC AA uc010nqy.2 ODZ1_uc011muj.1... Hybrid_Cap...
PASK p.E1060K 2 242054723 242054723 NCIH2227_LUNG 37 Missense_Mutation SNP C T uc010fzl.1 PASK_uc010zol.1... Hybrid_Cap... view
PASK p.S783C 2 242065983 242065983 NCIH2227_LUNG 37 Missense_Mutation SNP T A uc010fzl.1 PASK_uc010zol.1... Hybrid_Cap... view
PAX3 2 223158653 223158653 NCIH2227_LUNG 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDCD11 p.R1530W 10 105201613 105201613 NCIH2227_LUNG 37 Missense_Mutation SNP C T uc001kwy.1 Hybrid_Cap... view
PDGFRA p.P577T 4 55141083 55141083 NCIH2227_LUNG 37 Missense_Mutation SNP C A uc003han.3 PDGFRA_uc003haa... Hybrid_Cap... view
PDGFRB p.S280R 5 149513243 149513243 NCIH2227_LUNG 37 Missense_Mutation SNP A T uc003lro.2 PDGFRB_uc010jhd... Hybrid_Cap... view
PER1 p.P871L 17 8047044 8047044 NCIH2227_LUNG 37 Missense_Mutation SNP G A uc002gkd.2 PER1_uc010cns.2... Hybrid_Cap... view
PGR 11 100933598 100933599 NCIH2227_LUNG 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3R4 p.V290I 3 130452974 130452974 NCIH2227_LUNG 37 Missense_Mutation SNP C T uc003enj.2 Hybrid_Cap... view
PNCK X 152938410 152938411 NCIH2227_LUNG 37 Intron Del AC - uc011myu.1 PNCK_uc011myt.1... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 NCIH2227_LUNG 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKG2 p.F323V 4 82074821 82074821 NCIH2227_LUNG 37 Missense_Mutation SNP A C uc003hmh.2 PRKG2_uc011ccf.... Hybrid_Cap... view
PSKH2 p.G33fs 8 87081752 87081753 NCIH2227_LUNG 37 Frame_Shift_Ins Ins - C uc011lfy.1 Hybrid_Cap...
PTPN11 p.T553M 12 112940006 112940006 NCIH2227_LUNG 37 Missense_Mutation SNP C T uc001ttx.2 Hybrid_Cap... view
RAD50 p.V323G 5 131923698 131923698 NCIH2227_LUNG 37 Missense_Mutation SNP T G uc003kxi.2 RAD50_uc003kxh.... Hybrid_Cap... view
RALBP1 18 9535951 9535951 NCIH2227_LUNG 37 3'UTR SNP G A uc002kob.2 RALBP1_uc002koc... Hybrid_Cap... view
RB1 p.E166* 13 48919331 48919331 NCIH2227_LUNG 37 Nonsense_Mutation SNP G T uc001vcb.2 RB1_uc010acs.1_... Hybrid_Cap... view
ROBO1 p.N391_splice 3 78735069 78735069 NCIH2227_LUNG 37 Splice_Site_SNP SNP T C uc003dqe.2 ROBO1_uc003dqb.... Hybrid_Cap... view
ROS1 p.E290* 6 117715890 117715890 NCIH2227_LUNG 37 Nonsense_Mutation SNP C A uc003pxp.1 ROS1_uc011ebi.1... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 NCIH2227_LUNG 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
SACS p.H3178R 13 23908482 23908482 NCIH2227_LUNG 37 Missense_Mutation SNP T C uc001uon.2 SACS_uc001uoo.2... Hybrid_Cap... view
SRPK1 6 35802954 35802955 NCIH2227_LUNG 37 3'UTR Ins - A uc003olj.2 SRPK1_uc011dtg.... Hybrid_Cap...
STK25 2 242435659 242435662 NCIH2227_LUNG 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 NCIH2227_LUNG 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STK38 6 36508145 36508145 NCIH2227_LUNG 37 5'UTR SNP T C uc003omg.2 STK38_uc003omh.... Hybrid_Cap... view
TBCK p.I690T 4 107092418 107092418 NCIH2227_LUNG 37 Missense_Mutation SNP A G uc010ilv.2 TBCK_uc003hyb.2... Hybrid_Cap... view
TCERG1L p.R303Q 10 132965097 132965097 NCIH2227_LUNG 37 Missense_Mutation SNP C T uc001lkp.2 TCERG1L_uc009ya... Hybrid_Cap... view
TEC p.S152_splice 4 48170644 48170644 NCIH2227_LUNG 37 Splice_Site_SNP SNP C A uc003gxz.2 Hybrid_Cap... view
TGFB2 1 218519928 218519929 NCIH2227_LUNG 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TGFB2 1 218614839 218614839 NCIH2227_LUNG 37 3'UTR SNP G C rs61762489 uc001hln.2 TGFB2_uc001hlm.... Hybrid_Cap... view
TLK1 2 171850178 171850179 NCIH2227_LUNG 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TLK2 p.K323_splice 17 60642499 60642499 NCIH2227_LUNG 37 Splice_Site_SNP SNP G A uc010ddp.2 TLK2_uc002izx.3... Hybrid_Cap... view
TMPO p.R650C 12 98927983 98927983 NCIH2227_LUNG 37 Missense_Mutation SNP C T uc001tfh.1 TMPO_uc001tfi.1... Hybrid_Cap... view
TNN p.Q261L 1 175048841 175048841 NCIH2227_LUNG 37 Missense_Mutation SNP A T uc001gkl.1 TNN_uc010pmx.1_... Hybrid_Cap... view
TNN p.D798Y 1 175087702 175087702 NCIH2227_LUNG 37 Missense_Mutation SNP G T uc001gkl.1 Hybrid_Cap... view
TNN p.C1237* 1 175113638 175113638 NCIH2227_LUNG 37 Nonsense_Mutation SNP C A uc001gkl.1 Hybrid_Cap... view
TNRC6B p.Q1328del 22 40697177 40697179 NCIH2227_LUNG 37 In_Frame_Del Del GCA - rs114291931 uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap...
TP53 p.S261_splice 17 7577157 7577157 NCIH2227_LUNG 37 Splice_Site_SNP SNP T G uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TTN p.C27451W 2 179417570 179417570 NCIH2227_LUNG 37 Missense_Mutation SNP A C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.C11861F 2 179497447 179497447 NCIH2227_LUNG 37 Missense_Mutation SNP C A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.E10815D 2 179514961 179514961 NCIH2227_LUNG 37 Missense_Mutation SNP T A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.V904G 2 179648861 179648861 NCIH2227_LUNG 37 Missense_Mutation SNP A C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TUFT1 p.E218* 1 151546803 151546803 NCIH2227_LUNG 37 Nonsense_Mutation SNP G T uc001eyl.2 TUFT1_uc001eym.... Hybrid_Cap... view
UBE3B p.G944C 12 109968371 109968371 NCIH2227_LUNG 37 Missense_Mutation SNP G T uc001top.2 UBE3B_uc001toq.... Hybrid_Cap... view
VPS13B p.C445F 8 100147274 100147275 NCIH2227_LUNG 37 Missense_Mutation DNP GC TT uc003yiv.2 VPS13B_uc003yiw... Hybrid_Cap...