Annotation Summary for Cell Line: NCI-H2030  

Cell line primary name: NCI-H2030
Cell line aliases: H2030
Gender: M
Site Primary: lung
Histology: carcinoma
Hist Subtype1: non_small_cell_carcinoma
Notes:
Source: ATCC
Expression arrays: METIS_p_NCLE_RNA1_Human_U133_Plus_2.0_E08_240960
SNP arrays: LIMPS_p_NCLE_DNA2N_GenomeWideSNP_6_G06_246764
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in NCI-H2030

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ADAM17 2 9630245 9630245 NCIH2030_LUNG 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 NCIH2030_LUNG 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 NCIH2030_LUNG 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK1 4 113347609 113347610 NCIH2030_LUNG 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ASPH p.A264_splice 8 62550924 62550925 NCIH2030_LUNG 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
BAI3 p.M722I 6 69758135 69758135 NCIH2030_LUNG 37 Missense_Mutation SNP G T uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BCR 22 23631813 23631814 NCIH2030_LUNG 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BMPR2 p.R259L 2 203383699 203383699 NCIH2030_LUNG 37 Missense_Mutation SNP G T uc002uzf.3 BMPR2_uc010ftr.... Hybrid_Cap... view
C15ORF2 p.S747I 15 24923254 24923254 NCIH2030_LUNG 37 Missense_Mutation SNP G T uc001ywo.2 Hybrid_Cap... view
CACNB2 10 18828721 18828722 NCIH2030_LUNG 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CARD11 p.H606N 7 2963991 2963991 NCIH2030_LUNG 37 Missense_Mutation SNP G T uc003smv.2 Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 NCIH2030_LUNG 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHD5 p.E1633* 1 6181180 6181180 NCIH2030_LUNG 37 Nonsense_Mutation SNP C A rs35026547 uc001amb.1 CHD5_uc001alz.1... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 NCIH2030_LUNG 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CSMD3 p.C1939W 8 113403010 113403010 NCIH2030_LUNG 37 Missense_Mutation SNP A C uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CUBN p.L1095F 10 17089457 17089457 NCIH2030_LUNG 37 Missense_Mutation SNP C A uc001ioo.2 Hybrid_Cap... view
CXCL12 10 44873992 44873993 NCIH2030_LUNG 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DCLK1 p.P609T 13 36382399 36382399 NCIH2030_LUNG 37 Missense_Mutation SNP G T uc001uvf.2 DCLK1_uc001uve.... Hybrid_Cap... view
DDX6 p.M12I 11 118656925 118656925 NCIH2030_LUNG 37 Missense_Mutation SNP C G uc001pub.2 DDX6_uc001puc.2... Hybrid_Cap... view
DIABLO 12 122692850 122692850 NCIH2030_LUNG 37 3'UTR SNP C T uc010tab.1 DIABLO_uc010taa... Hybrid_Cap... view
DMPK 19 46281936 46281937 NCIH2030_LUNG 37 Intron Del CT - uc002pdi.1 DMPK_uc010xxs.1... Hybrid_Cap...
DYRK1A 21 38884966 38884967 NCIH2030_LUNG 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
DYRK2 p.T281R 12 68051529 68051529 NCIH2030_LUNG 37 Missense_Mutation SNP C G uc001str.3 DYRK2_uc001sts.... Hybrid_Cap... view
EHBP1 p.D196N 2 63058245 63058245 NCIH2030_LUNG 37 Missense_Mutation SNP G A uc002sby.2 EHBP1_uc010fcp.... Hybrid_Cap... view
EIF4E 4 99808137 99808141 NCIH2030_LUNG 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
ERBB2 17 37868564 37868564 NCIH2030_LUNG 37 Intron SNP C T uc002hso.2 ERBB2_uc002hsm.... Hybrid_Cap... view
EXT2 p.Q411H 11 44151649 44151649 NCIH2030_LUNG 37 Missense_Mutation SNP G T uc001mya.2 EXT2_uc010rfo.1... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 NCIH2030_LUNG 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 NCIH2030_LUNG 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 NCIH2030_LUNG 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 NCIH2030_LUNG 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GMPS p.N556S 3 155649660 155649660 NCIH2030_LUNG 37 Missense_Mutation SNP A G uc003faq.2 GMPS_uc011bom.1... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 NCIH2030_LUNG 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 NCIH2030_LUNG 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 NCIH2030_LUNG 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 NCIH2030_LUNG 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
ILK 11 6630029 6630029 NCIH2030_LUNG 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
KDR p.G152V 4 55981482 55981482 NCIH2030_LUNG 37 Missense_Mutation SNP C A uc003has.2 KDR_uc003hat.1_... Hybrid_Cap... view
KIAA1409 p.P1807S 14 94103612 94103612 NCIH2030_LUNG 37 Missense_Mutation SNP C T uc001ybv.1 KIAA1409_uc001y... Hybrid_Cap... view
KLK7 19 51480672 51480675 NCIH2030_LUNG 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KRAS p.G12C 12 25398285 25398285 NCIH2030_LUNG 37 Missense_Mutation SNP C A uc001rgp.1 KRAS_uc001rgq.1... Hybrid_Cap... view
LIFR p.G779_splice 5 38486084 38486084 NCIH2030_LUNG 37 Splice_Site_SNP SNP T C uc010ive.1 LIFR_uc003jli.2... Hybrid_Cap... view
LRP1B p.G513R 2 141812700 141812700 NCIH2030_LUNG 37 Missense_Mutation SNP C G uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
MAF 16 79628537 79628537 NCIH2030_LUNG 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 NCIH2030_LUNG 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 NCIH2030_LUNG 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K10 p.R857C 19 40720903 40720903 NCIH2030_LUNG 37 Missense_Mutation SNP C T uc002ona.2 MAP3K10_uc002on... Hybrid_Cap... view
MAP3K14 p.R218_splice 17 43364293 43364294 NCIH2030_LUNG 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K2 p.L89_splice 2 128088083 128088083 NCIH2030_LUNG 37 Splice_Site_SNP SNP T A uc002toj.1 MAP3K2_uc010flz... Hybrid_Cap... view
MAP4K3 p.F333_splice 2 39536662 39536662 NCIH2030_LUNG 37 Splice_Site_SNP SNP T A uc002rro.2 MAP4K3_uc002rrp... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 NCIH2030_LUNG 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MARK1 p.S546* 1 220825393 220825393 NCIH2030_LUNG 37 Nonsense_Mutation SNP C A uc009xdw.2 MARK1_uc001hmn.... Hybrid_Cap... view
MASTL 10 27444240 27444241 NCIH2030_LUNG 37 5'UTR Ins - G uc001itm.2 YME1L1_uc001iti... Hybrid_Cap...
MCF2 X 138724659 138724659 NCIH2030_LUNG 37 Intron SNP G A uc011mwo.1 MCF2_uc004fau.2... Hybrid_Cap... view
MCM3AP p.K362fs 21 47704116 47704116 NCIH2030_LUNG 37 Frame_Shift_Del Del T - uc002zir.1 C21orf57_uc002z... Hybrid_Cap...
MKRN3 p.Q390H 15 23812099 23812099 NCIH2030_LUNG 37 Missense_Mutation SNP A T uc001ywh.3 MKRN3_uc001ywi.... Hybrid_Cap... view
MLL3 p.V2216F 7 151878299 151878299 NCIH2030_LUNG 37 Missense_Mutation SNP C A uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap... view
MLL3 p.G906C 7 151932955 151932955 NCIH2030_LUNG 37 Missense_Mutation SNP C A uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap... view
MLL3 p.Y816fs 7 151945071 151945072 NCIH2030_LUNG 37 Frame_Shift_Ins Ins - T uc003wla.2 Hybrid_Cap...
MMP8 p.A379S 11 102585342 102585342 NCIH2030_LUNG 37 Missense_Mutation SNP C A uc001phe.2 MMP8_uc010rut.1... Hybrid_Cap... view
MSH3 p.PPA66del 5 79950742 79950750 NCIH2030_LUNG 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MYST3 p.G687C 8 41801435 41801435 NCIH2030_LUNG 37 Missense_Mutation SNP C A uc010lxb.2 MYST3_uc010lxc.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 NCIH2030_LUNG 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 NCIH2030_LUNG 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 NCIH2030_LUNG 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NCOA3 20 46282339 46282340 NCIH2030_LUNG 37 3'UTR Ins - AT uc002xtk.2 NCOA3_uc002xtl.... Hybrid_Cap...
NF1 p.T2444T 17 29677211 29677211 NCIH2030_LUNG 37 Silent SNP A T uc002hgg.2 NF1_uc002hgh.2_... Hybrid_Cap... view
NFATC1 18 77287653 77287654 NCIH2030_LUNG 37 3'UTR Del AA - uc010xfg.1 NFATC1_uc002lnd... Hybrid_Cap...
NLRP3 p.W243L 1 247587473 247587473 NCIH2030_LUNG 37 Missense_Mutation SNP G T uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap... view
NOTCH4 p.15_16LL>L 6 32191659 32191661 NCIH2030_LUNG 37 In_Frame_Del Del AGC - uc003obb.2 NOTCH4_uc011dpu... Hybrid_Cap...
NPR1 1 153665919 153665920 NCIH2030_LUNG 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 NCIH2030_LUNG 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR3C1 5 142780419 142780419 NCIH2030_LUNG 37 Splice_Site_SNP SNP T A uc003lmy.2 NR3C1_uc003lmz.... Hybrid_Cap... view
NTRK3 p.T563N 15 88483882 88483882 NCIH2030_LUNG 37 Missense_Mutation SNP G T uc002bme.1 NTRK3_uc002bmh.... Hybrid_Cap... view
NTRK3 15 88524513 88524513 NCIH2030_LUNG 37 Intron SNP T C uc002bme.1 NTRK3_uc002bmh.... Hybrid_Cap... view
NUP214 p.G1983W 9 134103591 134103591 NCIH2030_LUNG 37 Missense_Mutation SNP G T uc004cag.2 NUP214_uc004cah... Hybrid_Cap... view
PAX3 2 223158653 223158653 NCIH2030_LUNG 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PCM1 p.H81Y 8 17794787 17794787 NCIH2030_LUNG 37 Missense_Mutation SNP C T uc003wyi.3 PCM1_uc011kyh.1... Hybrid_Cap... view
PCM1 p.E627del 8 17815108 17815110 NCIH2030_LUNG 37 In_Frame_Del Del GAG - uc003wyi.3 PCM1_uc011kyh.1... Hybrid_Cap...
PCM1 p.M663T 8 17815232 17815232 NCIH2030_LUNG 37 Missense_Mutation SNP T C uc003wyi.3 PCM1_uc011kyh.1... Hybrid_Cap... view
PCM1 p.A1282T 8 17830097 17830097 NCIH2030_LUNG 37 Missense_Mutation SNP G A uc003wyi.3 PCM1_uc011kyh.1... Hybrid_Cap... view
PCM1 p.D1842H 8 17871485 17871485 NCIH2030_LUNG 37 Missense_Mutation SNP G C uc003wyi.3 PCM1_uc011kyh.1... Hybrid_Cap... view
PPARD p.T376S 6 35393656 35393656 NCIH2030_LUNG 37 Missense_Mutation SNP A T uc003okm.2 PPARD_uc003okn.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 NCIH2030_LUNG 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PSKH2 p.S241C 8 87076325 87076325 NCIH2030_LUNG 37 Missense_Mutation SNP T A uc011lfy.1 Hybrid_Cap... view
PTGS2 p.R585C 1 186643547 186643547 NCIH2030_LUNG 37 Missense_Mutation SNP G A uc001gsb.2 PTGS2_uc009wyo.... Hybrid_Cap... view
PTPRU p.P532L 1 29605999 29605999 NCIH2030_LUNG 37 Missense_Mutation SNP C T uc001bru.2 PTPRU_uc001brv.... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 NCIH2030_LUNG 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
REM1 p.D198Y 20 30070258 30070258 NCIH2030_LUNG 37 Missense_Mutation SNP G T uc002wwa.2 Hybrid_Cap... view
RPS6KL1 14 75373626 75373627 NCIH2030_LUNG 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
STK11 p.E317* 19 1223012 1223012 NCIH2030_LUNG 37 Nonsense_Mutation SNP G T uc002lrl.1 Hybrid_Cap... view
STK11 p.E357K 19 1223132 1223132 NCIH2030_LUNG 37 Missense_Mutation SNP G A uc002lrl.1 Hybrid_Cap... view
STK31 7 23872024 23872025 NCIH2030_LUNG 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
SULF2 p.R37S 20 46385997 46385997 NCIH2030_LUNG 37 Missense_Mutation SNP C G uc002xto.2 SULF2_uc002xtr.... Hybrid_Cap... view
TAF15 p.GGYGGDRG477del 17 34171660 34171683 NCIH2030_LUNG 37 In_Frame_Del Del GGTGG... - uc002hkd.2 TAF15_uc002hkc.... Hybrid_Cap...
TBX18 p.A541V 6 85446605 85446605 NCIH2030_LUNG 37 Missense_Mutation SNP G A uc003pkl.1 TBX18_uc010kbq.... Hybrid_Cap... view
TIE1 1 43779724 43779725 NCIH2030_LUNG 37 Intron Ins - TG uc001ciu.2 TIE1_uc010oke.1... Hybrid_Cap...
TMEM123 11 102269398 102269398 NCIH2030_LUNG 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNK1 p.F317Y 17 7287886 7287886 NCIH2030_LUNG 37 Missense_Mutation SNP T A uc002ggi.3 TNK1_uc002ggj.3... Hybrid_Cap... view
TP53 p.G262V 17 7577153 7577153 NCIH2030_LUNG 37 Missense_Mutation SNP C A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TRPS1 8 116635872 116635873 NCIH2030_LUNG 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN 2 179391639 179391640 NCIH2030_LUNG 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 NCIH2030_LUNG 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...