Annotation Summary for Cell Line: NCI-H716  

Cell line primary name: NCI-H716
Cell line aliases: H716
Gender:
Site Primary: large_intestine
Histology: carcinoma
Hist Subtype1: adenocarcinoma
Notes:
Source: ATCC
Expression arrays: AGENT_p_NCLE_RNA6_HG-U133_Plus_2_E02_436548
SNP arrays: BOWER_p_NCLE_DNAAffy8_GenomeWideSNP_6_F08_464696
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in NCI-H716

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ABCC3 p.G1378V 17 48762089 48762089 NCIH716_LARGE_I... 37 Missense_Mutation SNP G T uc002isl.2 ABCC3_uc002isn.... Hybrid_Cap... view
ACACA 17 35766564 35766564 NCIH716_LARGE_I... 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAM17 2 9630245 9630245 NCIH716_LARGE_I... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM22 p.P272R 7 87754955 87754955 NCIH716_LARGE_I... 37 Missense_Mutation SNP C G uc003ujp.1 ADAM22_uc003uji... Hybrid_Cap... view
ADAM28 8 24211994 24211997 NCIH716_LARGE_I... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 NCIH716_LARGE_I... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 NCIH716_LARGE_I... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 NCIH716_LARGE_I... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ALPK2 p.P682fs 18 56205373 56205374 NCIH716_LARGE_I... 37 Frame_Shift_Ins Ins - G uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ALPK2 p.N2137K 18 56149157 56149157 NCIH716_LARGE_I... 37 Missense_Mutation SNP G T uc002lhj.3 Hybrid_Cap... view
ALS2 2 202587706 202587707 NCIH716_LARGE_I... 37 Intron Ins - A rs3219165 uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap...
ASPH p.A264_splice 8 62550924 62550925 NCIH716_LARGE_I... 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
ATR p.M328V 3 142281262 142281262 NCIH716_LARGE_I... 37 Missense_Mutation SNP T C uc003eux.3 Hybrid_Cap... view
AURKC 19 57742494 57742507 NCIH716_LARGE_I... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BRD2 6 32948526 32948526 NCIH716_LARGE_I... 37 3'UTR SNP C T uc010juh.2 BRD2_uc003ocn.3... Hybrid_Cap... view
BTG1 12 92537706 92537707 NCIH716_LARGE_I... 37 3'UTR Ins - T rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
CACNB2 10 18828721 18828722 NCIH716_LARGE_I... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CDH1 p.R224C 16 68842734 68842734 NCIH716_LARGE_I... 37 Missense_Mutation SNP C T uc002ewg.1 CDH1_uc010vlj.1... Hybrid_Cap... view
CDK11B 1 1654066 1654068 NCIH716_LARGE_I... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK11B p.K127_splice 1 1647893 1647894 NCIH716_LARGE_I... 37 Splice_Site_Ins Ins - TTTCTT rs114930018 uc001agv.1 CDK11B_uc001ags... Hybrid_Cap...
CIC p.P1148L 19 42796985 42796985 NCIH716_LARGE_I... 37 Missense_Mutation SNP C T uc002otf.1 Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 NCIH716_LARGE_I... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 NCIH716_LARGE_I... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
DACH1 13 72014625 72014626 NCIH716_LARGE_I... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DBF4 p.K191T 7 87517349 87517349 NCIH716_LARGE_I... 37 Missense_Mutation SNP A C uc003ujf.1 DBF4_uc003ujh.1... Hybrid_Cap... view
EDN1 6 12290729 12290729 NCIH716_LARGE_I... 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EDN1 6 12296150 12296151 NCIH716_LARGE_I... 37 Intron Ins - T rs66570617 uc003nae.3 EDN1_uc003nad.2... Hybrid_Cap...
EIF4A2 3 186505689 186505690 NCIH716_LARGE_I... 37 Intron Del TG - uc003fqu.2 EIF4A2_uc003fqs... Hybrid_Cap...
EIF4E 4 99808137 99808141 NCIH716_LARGE_I... 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
EP300 22 41574970 41574972 NCIH716_LARGE_I... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHB4 p.R923G 7 100402855 100402855 NCIH716_LARGE_I... 37 Missense_Mutation SNP T C uc003uwn.1 EPHB4_uc003uwm.... Hybrid_Cap... view
EPS15 1 51822220 51822220 NCIH716_LARGE_I... 37 3'UTR Del A - uc001csq.1 EPS15_uc009vyz.... Hybrid_Cap...
ESR2 14 64694504 64694504 NCIH716_LARGE_I... 37 3'UTR SNP T C uc001xgy.1 ESR2_uc001xgu.2... Hybrid_Cap... view
ETV1 7 14028708 14028708 NCIH716_LARGE_I... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FADD p.D111H 11 70052283 70052283 NCIH716_LARGE_I... 37 Missense_Mutation SNP G C uc001opm.2 Hybrid_Cap... view
FANCD2 3 10083106 10083106 NCIH716_LARGE_I... 37 Intron SNP A T uc003buw.2 FANCD2_uc003bux... Hybrid_Cap... view
FANCE p.G340R 6 35426122 35426122 NCIH716_LARGE_I... 37 Missense_Mutation SNP G C rs45524646 uc003oko.1 FANCE_uc010jvw.... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 NCIH716_LARGE_I... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 NCIH716_LARGE_I... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 NCIH716_LARGE_I... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 NCIH716_LARGE_I... 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FN1 2 216244182 216244185 NCIH716_LARGE_I... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FZD1 p.93_94insP 7 90894459 90894460 NCIH716_LARGE_I... 37 In_Frame_Ins Ins - CCG uc003ula.2 Hybrid_Cap...
GLI2 p.D1435E 2 121747795 121747795 NCIH716_LARGE_I... 37 Missense_Mutation SNP C G uc010flp.2 GLI2_uc002tmq.1... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 NCIH716_LARGE_I... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 NCIH716_LARGE_I... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY1A2 p.N417Y 11 106681162 106681162 NCIH716_LARGE_I... 37 Missense_Mutation SNP T A uc009yxn.1 GUCY1A2_uc001pj... Hybrid_Cap... view
GUCY2C 12 14827464 14827466 NCIH716_LARGE_I... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HNF1A 12 121434630 121434631 NCIH716_LARGE_I... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
IL6ST p.M867T 5 55237067 55237067 NCIH716_LARGE_I... 37 Missense_Mutation SNP A G uc003jqq.2 IL6ST_uc010iwb.... Hybrid_Cap... view
ILK 11 6630029 6630029 NCIH716_LARGE_I... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
IRS1 p.S686del 2 227661396 227661398 NCIH716_LARGE_I... 37 In_Frame_Del Del TGC - uc002voh.3 Hybrid_Cap...
ITGB1 10 33190348 33190348 NCIH716_LARGE_I... 37 3'UTR SNP T C uc001iwq.3 ITGB1_uc001iwp.... Hybrid_Cap... view
KLK7 19 51480672 51480675 NCIH716_LARGE_I... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KRAS p.R97I 12 25380168 25380168 NCIH716_LARGE_I... 37 Missense_Mutation SNP C A uc001rgp.1 KRAS_uc001rgq.1... Hybrid_Cap... view
LRGUK 7 133948823 133948823 NCIH716_LARGE_I... 37 3'UTR SNP C G uc003vrm.1 Hybrid_Cap... view
MAF 16 79628537 79628537 NCIH716_LARGE_I... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 NCIH716_LARGE_I... 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 NCIH716_LARGE_I... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K6 17 67537943 67537943 NCIH716_LARGE_I... 37 3'UTR SNP G A uc002jij.2 Hybrid_Cap... view
MAP3K14 p.R218_splice 17 43364293 43364294 NCIH716_LARGE_I... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK14 6 36076345 36076354 NCIH716_LARGE_I... 37 3'UTR Del GTGTG... - rs80147786 uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 NCIH716_LARGE_I... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MAST4 p.R201C 5 66400215 66400215 NCIH716_LARGE_I... 37 Missense_Mutation SNP C T uc003jut.1 MAST4_uc003jus.... Hybrid_Cap... view
MAST4 p.S1104L 5 66458527 66458527 NCIH716_LARGE_I... 37 Missense_Mutation SNP C T uc003jut.1 MAST4_uc003juw.... Hybrid_Cap... view
MFSD2A 1 40435304 40435304 NCIH716_LARGE_I... 37 3'UTR SNP C T uc001cev.2 MFSD2A_uc001ceu... Hybrid_Cap... view
MLL3 p.Y816fs 7 151945071 151945072 NCIH716_LARGE_I... 37 Frame_Shift_Ins Ins - T uc003wla.2 Hybrid_Cap...
MMP2 p.N380H 16 55523694 55523694 NCIH716_LARGE_I... 37 Missense_Mutation SNP A C uc002ehz.3 MMP2_uc010vhd.1... Hybrid_Cap... view
MN1 p.G1131D 22 28193140 28193140 NCIH716_LARGE_I... 37 Missense_Mutation SNP C T uc003adj.2 Hybrid_Cap... view
MSH3 p.PPA66del 5 79950742 79950750 NCIH716_LARGE_I... 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MYLK 3 123332875 123332876 NCIH716_LARGE_I... 37 3'UTR Ins - T rs35930843;rs115544676 uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap...
NCAM1 11 112832307 112832308 NCIH716_LARGE_I... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 NCIH716_LARGE_I... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 20 46282339 46282340 NCIH716_LARGE_I... 37 3'UTR Ins - AT uc002xtk.2 NCOA3_uc002xtl.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 NCIH716_LARGE_I... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NIPBL p.H249N 5 36971112 36971112 NCIH716_LARGE_I... 37 Missense_Mutation SNP C A uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap... view
NPR1 1 153665919 153665920 NCIH716_LARGE_I... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 NCIH716_LARGE_I... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NTRK3 15 88420050 88420050 NCIH716_LARGE_I... 37 3'UTR SNP G C uc002bme.1 NTRK3_uc002bmh.... Hybrid_Cap... view
NUDT11 X 51234589 51234589 NCIH716_LARGE_I... 37 3'UTR SNP C A uc010njt.2 Hybrid_Cap... view
NUP214 9 134067556 134067557 NCIH716_LARGE_I... 37 Intron Ins - T rs66652901 uc004cag.2 NUP214_uc004cah... Hybrid_Cap...
ODZ1 p.R774Q X 123695634 123695634 NCIH716_LARGE_I... 37 Missense_Mutation SNP C T uc010nqy.2 ODZ1_uc011muj.1... Hybrid_Cap... view
PAX3 2 223158653 223158653 NCIH716_LARGE_I... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PCDH15 p.P1442L 10 55587210 55587210 NCIH716_LARGE_I... 37 Missense_Mutation SNP G A uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap... view
PDE4DIP p.Q1665fs 1 144873963 144873963 NCIH716_LARGE_I... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PLK1 p.S107N 16 23690573 23690573 NCIH716_LARGE_I... 37 Missense_Mutation SNP G A uc002dlz.1 Hybrid_Cap... view
PPP3R1 p.F15_splice 2 68415824 68415824 NCIH716_LARGE_I... 37 Splice_Site_SNP SNP T A uc002sei.1 Hybrid_Cap... view
PRKCQ 10 6470046 6470046 NCIH716_LARGE_I... 37 3'UTR SNP T G uc001iji.1 PRKCQ_uc009xim.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 NCIH716_LARGE_I... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTPRD p.K1070N 9 8484322 8484322 NCIH716_LARGE_I... 37 Missense_Mutation SNP C G uc003zkk.2 PTPRD_uc003zkp.... Hybrid_Cap... view
RAPGEF2 4 160189200 160189201 NCIH716_LARGE_I... 37 5'UTR Ins - T rs72011511 uc003iqg.3 Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 NCIH716_LARGE_I... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RIF1 p.S511A 2 152295245 152295245 NCIH716_LARGE_I... 37 Missense_Mutation SNP T G uc002txm.2 RIF1_uc002txl.2... Hybrid_Cap... view
RPS6KL1 p.R361Q 14 75376434 75376434 NCIH716_LARGE_I... 37 Missense_Mutation SNP C T uc010tux.1 RPS6KL1_uc001xq... Hybrid_Cap... view
SSU72 1 1477324 1477325 NCIH716_LARGE_I... 37 3'UTR Del CA - rs72502747 uc001agd.2 C1orf70_uc009vk... Hybrid_Cap...
STK31 7 23872024 23872025 NCIH716_LARGE_I... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STK40 p.K212N 1 36819967 36819967 NCIH716_LARGE_I... 37 Missense_Mutation SNP C G uc001cal.1 STK40_uc001cak.... Hybrid_Cap... view
TAOK3 p.K543N 12 118615072 118615072 NCIH716_LARGE_I... 37 Missense_Mutation SNP T A uc001twx.2 TAOK3_uc001twv.... Hybrid_Cap... view
TBCK p.D371G 4 107163685 107163685 NCIH716_LARGE_I... 37 Missense_Mutation SNP T C uc010ilv.2 TBCK_uc003hyb.2... Hybrid_Cap... view
TMEM123 11 102269398 102269398 NCIH716_LARGE_I... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNRC6B p.Q1328del 22 40697177 40697179 NCIH716_LARGE_I... 37 In_Frame_Del Del GCA - rs114291931 uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap...
TP53 p.E224D 17 7578177 7578177 NCIH716_LARGE_I... 37 Missense_Mutation SNP C A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 NCIH716_LARGE_I... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TTBK1 p.E771del 6 43250726 43250728 NCIH716_LARGE_I... 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
TTN p.S27081L 2 179418892 179418892 NCIH716_LARGE_I... 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.K533I 2 179656863 179656863 NCIH716_LARGE_I... 37 Missense_Mutation SNP T A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
UBE3B p.S624N 12 109949023 109949023 NCIH716_LARGE_I... 37 Missense_Mutation SNP G A uc001top.2 UBE3B_uc001toq.... Hybrid_Cap... view
ULK4 p.V1273I 3 41288431 41288431 NCIH716_LARGE_I... 37 Missense_Mutation SNP C T uc003ckv.3 ULK4_uc003cku.3... Hybrid_Cap... view
USP6 p.E1011G 17 5066295 5066295 NCIH716_LARGE_I... 37 Missense_Mutation SNP A G uc002gau.1 USP6_uc002gav.1... Hybrid_Cap... view
VEGFC p.K375T 4 177608362 177608362 NCIH716_LARGE_I... 37 Missense_Mutation SNP T G uc003ius.1 Hybrid_Cap... view
ZBTB16 p.T189A 11 113934587 113934587 NCIH716_LARGE_I... 37 Missense_Mutation SNP A G rs111746546 uc001pop.2 ZBTB16_uc001poo... Hybrid_Cap... view