Annotation Summary for Cell Line: ABC-1  

Cell line primary name: ABC-1
Cell line aliases:
Gender: M
Site Primary: lung
Histology: carcinoma
Hist Subtype1: non_small_cell_carcinoma
Notes:
Source: HSRRB
Expression arrays: NIECE_p_NCLE_RNA3_HG-U133_Plus_2_D12_296084
SNP arrays: FASTS_p_NCLE_DNAAffy4_S_GenomeWideSNP_6_B08_335226
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in ABC-1

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 ABC1_LUNG 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ACACA p.N362H 17 35627677 35627677 ABC1_LUNG 37 Missense_Mutation SNP T G uc002hno.2 ACACA_uc002hnk.... Hybrid_Cap... view
ACVR1C p.V435F 2 158395138 158395138 ABC1_LUNG 37 Missense_Mutation SNP C A uc002tzk.3 ACVR1C_uc002tzl... Hybrid_Cap... view
ADAM17 p.E583* 2 9637279 9637279 ABC1_LUNG 37 Nonsense_Mutation SNP C A uc002qzu.2 ADAM17_uc010ewy... Hybrid_Cap... view
ADAM28 8 24211994 24211997 ABC1_LUNG 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 ABC1_LUNG 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK1 4 113347609 113347610 ABC1_LUNG 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALS2 p.G901E 2 202593785 202593785 ABC1_LUNG 37 Missense_Mutation SNP C T uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap... view
ARID1A 1 27107264 27107264 ABC1_LUNG 37 3'UTR Del C - uc001bmv.1 ARID1A_uc001bmu... Hybrid_Cap...
ARNT p.S585F 1 150789312 150789312 ABC1_LUNG 37 Missense_Mutation SNP G A uc001evr.1 ARNT_uc010pck.1... Hybrid_Cap... view
ATP11A p.R140G 13 113465017 113465017 ABC1_LUNG 37 Missense_Mutation SNP C G uc001vsj.3 ATP11A_uc001vsi... Hybrid_Cap... view
AURKC 19 57742494 57742507 ABC1_LUNG 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
CACNB2 10 18828721 18828722 ABC1_LUNG 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CASC5 p.P257L 15 40913154 40913154 ABC1_LUNG 37 Missense_Mutation SNP C T uc010bbs.1 CASC5_uc010ucq.... Hybrid_Cap... view
CBL p.D772E 11 119169132 119169132 ABC1_LUNG 37 Missense_Mutation SNP T G uc001pwe.2 Hybrid_Cap... view
CCNT1 p.Q18L 12 49110406 49110406 ABC1_LUNG 37 Missense_Mutation SNP T A uc001rse.1 CCNT1_uc009zkz.... Hybrid_Cap... view
CD79B 17 62006529 62006529 ABC1_LUNG 37 3'UTR SNP C T uc002jdp.1 CD79B_uc002jdo.... Hybrid_Cap... view
CDC73 1 193219882 193219882 ABC1_LUNG 37 3'UTR SNP C G uc001gtb.2 Hybrid_Cap... view
CHD9 p.S232A 16 53190695 53190695 ABC1_LUNG 37 Missense_Mutation SNP T G uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CHIC2 4 54876132 54876132 ABC1_LUNG 37 3'UTR Del C - rs4437313 uc003haj.1 PDGFRA_uc003haa... Hybrid_Cap...
CHRNA5 15 78885615 78885616 ABC1_LUNG 37 3'UTR Ins - TA rs72534078 uc002bdy.2 CHRNA3_uc002bea... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 ABC1_LUNG 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 3 1339681 1339686 ABC1_LUNG 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 ABC1_LUNG 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CYP27B1 12 58160834 58160834 ABC1_LUNG 37 5'UTR SNP C A uc001spz.1 CYP27B1_uc001sq... Hybrid_Cap... view
DGKB 7 14216345 14216346 ABC1_LUNG 37 Intron Ins - AGACT uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap...
DYRK1A 21 38884966 38884967 ABC1_LUNG 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EGF p.E1134fs 4 110932389 110932390 ABC1_LUNG 37 Frame_Shift_Ins Ins - C rs11569144 uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap...
EIF3H p.P309L 8 117658787 117658787 ABC1_LUNG 37 Missense_Mutation SNP G A rs1804928 uc003yob.2 EIF3H_uc003yoa.... Hybrid_Cap... view
EML4 2 42488567 42488567 ABC1_LUNG 37 Intron SNP G T uc002rsi.2 EML4_uc002rsh.3... Hybrid_Cap... view
EPHA6 3 97367230 97367231 ABC1_LUNG 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ERCC3 p.D10_splice 2 128051296 128051296 ABC1_LUNG 37 Splice_Site_SNP SNP T G uc002toh.1 ERCC3_uc002toe.... Hybrid_Cap... view
ETV1 7 14028708 14028708 ABC1_LUNG 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FANCM p.G1958C 14 45668002 45668002 ABC1_LUNG 37 Missense_Mutation SNP G T uc001wwd.3 FANCM_uc010anf.... Hybrid_Cap... view
FLI1 11 128638217 128638217 ABC1_LUNG 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT3 p.E661V 13 28602386 28602386 ABC1_LUNG 37 Missense_Mutation SNP T A uc001urw.2 FLT3_uc010aao.2... Hybrid_Cap... view
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 ABC1_LUNG 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
GH1 p.V136L 17 61995170 61995170 ABC1_LUNG 37 Missense_Mutation SNP C G rs5388 uc002jdj.2 GH1_uc002jdi.2_... Hybrid_Cap... view
GLI1 p.L322V 12 57861167 57861167 ABC1_LUNG 37 Missense_Mutation SNP C G uc001snx.2 GLI1_uc009zpq.2... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 ABC1_LUNG 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 ABC1_LUNG 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIN2A p.R1241Q 16 9857679 9857679 ABC1_LUNG 37 Missense_Mutation SNP C T uc002czo.3 GRIN2A_uc010uym... Hybrid_Cap... view
GRK7 p.R388* 3 141526598 141526598 ABC1_LUNG 37 Nonsense_Mutation SNP C T uc011bnd.1 Hybrid_Cap... view
GSK3A p.D255E 19 42738732 42738732 ABC1_LUNG 37 Missense_Mutation SNP G C uc002otb.1 GSK3A_uc002ota.... Hybrid_Cap... view
HNF1A 12 121434630 121434631 ABC1_LUNG 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 ABC1_LUNG 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGB4 p.I434M 17 73727979 73727979 ABC1_LUNG 37 Missense_Mutation SNP C G uc002jpg.2 ITGB4_uc002jph.... Hybrid_Cap... view
ITGB6 p.L551F 2 160993954 160993954 ABC1_LUNG 37 Missense_Mutation SNP G A uc002ubh.2 ITGB6_uc010fou.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 ABC1_LUNG 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KDM5A p.I123_splice 12 475272 475272 ABC1_LUNG 37 Splice_Site_SNP SNP T A uc001qif.1 KDM5A_uc001qie.... Hybrid_Cap... view
KIAA1804 p.S413F 1 233490684 233490684 ABC1_LUNG 37 Missense_Mutation SNP C T uc001hvt.3 KIAA1804_uc001h... Hybrid_Cap... view
KLK7 19 51480672 51480675 ABC1_LUNG 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LATS2 13 21620222 21620223 ABC1_LUNG 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
LRP1B p.R2165W 2 141458125 141458125 ABC1_LUNG 37 Missense_Mutation SNP G A uc002tvj.1 Hybrid_Cap... view
MAF 16 79628537 79628537 ABC1_LUNG 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 ABC1_LUNG 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 ABC1_LUNG 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 ABC1_LUNG 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K14 17 43341939 43341939 ABC1_LUNG 37 3'UTR SNP C A uc002iiw.1 LOC100133991_uc... Hybrid_Cap... view
MAPK14 6 36076345 36076354 ABC1_LUNG 37 3'UTR Del GTGTG... - rs80147786 uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MSH3 p.Q794E 5 80074600 80074600 ABC1_LUNG 37 Missense_Mutation SNP C G uc003kgz.2 Hybrid_Cap... view
MTOR p.A1134V 1 11272529 11272529 ABC1_LUNG 37 Missense_Mutation SNP G A rs28730685 uc001asd.2 Hybrid_Cap... view
MYST4 p.E1104del 10 76781906 76781908 ABC1_LUNG 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
NCAM1 11 112832307 112832308 ABC1_LUNG 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 ABC1_LUNG 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.QQQ1272del 20 46279815 46279823 ABC1_LUNG 37 In_Frame_Del Del GCAGC... - uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK11 3 130852810 130852810 ABC1_LUNG 37 Intron SNP C A rs77486257 uc003eny.2 NEK11_uc003enx.... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 ABC1_LUNG 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NF1 p.E1043* 17 29557873 29557873 ABC1_LUNG 37 Nonsense_Mutation SNP G T uc002hgg.2 NF1_uc002hgh.2_... Hybrid_Cap... view
NLK p.H227Q 17 26488222 26488222 ABC1_LUNG 37 Missense_Mutation SNP T A uc010crj.2 NLK_uc010cri.1_... Hybrid_Cap... view
NOTCH2 1 120493307 120493307 ABC1_LUNG 37 Intron SNP A T uc001eik.2 NOTCH2_uc001eil... Hybrid_Cap... view
NOTCH4 6 32170465 32170465 ABC1_LUNG 37 Intron Del G - uc003obb.2 NOTCH4_uc003oba... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 ABC1_LUNG 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NSD1 p.R941C 5 176638221 176638221 ABC1_LUNG 37 Missense_Mutation SNP C T uc003mfr.3 NSD1_uc003mft.3... Hybrid_Cap... view
OXSR1 3 38294426 38294426 ABC1_LUNG 37 3'UTR SNP C T uc003chy.2 OXSR1_uc010hhb.... Hybrid_Cap... view
PASK p.C1211G 2 242047639 242047639 ABC1_LUNG 37 Missense_Mutation SNP A C uc010fzl.1 PASK_uc010zol.1... Hybrid_Cap... view
PAX3 2 223066017 223066018 ABC1_LUNG 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PCDH15 p.A746fs 10 55782957 55782957 ABC1_LUNG 37 Frame_Shift_Del Del C - uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap...
PCM1 p.A262T 8 17804695 17804695 ABC1_LUNG 37 Missense_Mutation SNP G A uc003wyi.3 PCM1_uc011kyh.1... Hybrid_Cap... view
PGR 11 100933598 100933599 ABC1_LUNG 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2A 11 17111198 17111199 ABC1_LUNG 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PMS1 2 190670539 190670540 ABC1_LUNG 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 ABC1_LUNG 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 ABC1_LUNG 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RGL4 22 24040905 24040905 ABC1_LUNG 37 Intron SNP C T uc002zxn.2 LOC91316_uc002z... Hybrid_Cap... view
RIOK1 6 7403041 7403041 ABC1_LUNG 37 Intron SNP T G uc003mxn.2 RIOK1_uc003mxm.... Hybrid_Cap... view
ROBO2 3 77666937 77666937 ABC1_LUNG 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
ROCK1 p.N64S 18 18629826 18629826 ABC1_LUNG 37 Missense_Mutation SNP T C uc002kte.2 Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 ABC1_LUNG 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KB1 17 58024224 58024225 ABC1_LUNG 37 3'UTR Ins - AA rs67846207 uc002ixy.2 RPS6KB1_uc010dd... Hybrid_Cap...
RRM2 p.R78C 2 10263571 10263571 ABC1_LUNG 37 Missense_Mutation SNP C T uc002rah.2 Hybrid_Cap... view
RYK p.A286T 3 133913951 133913951 ABC1_LUNG 37 Missense_Mutation SNP C T uc003eqc.1 RYK_uc003eqd.1_... Hybrid_Cap... view
SEPT9 p.I301V 17 75478405 75478405 ABC1_LUNG 37 Missense_Mutation SNP A G uc002jts.3 SEPT9_uc010wtk.... Hybrid_Cap... view
SLC22A15 p.A6G 1 116519265 116519265 ABC1_LUNG 37 Missense_Mutation SNP C G uc001egb.3 SLC22A15_uc001e... Hybrid_Cap... view
SLK p.E349D 10 105761983 105761983 ABC1_LUNG 37 Missense_Mutation SNP A T uc001kxo.1 SLK_uc001kxp.1_... Hybrid_Cap... view
STK31 7 23872024 23872025 ABC1_LUNG 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TCL6 14 96135734 96135735 ABC1_LUNG 37 Intron Ins - T uc001yeq.2 TCL6_uc001yep.1... Hybrid_Cap...
TIE1 p.M1120R 1 43788335 43788335 ABC1_LUNG 37 Missense_Mutation SNP T G uc001ciu.2 TIE1_uc010oke.1... Hybrid_Cap... view
TIE1 p.L1122Q 1 43788341 43788341 ABC1_LUNG 37 Missense_Mutation SNP T A uc001ciu.2 TIE1_uc010oke.1... Hybrid_Cap... view
TLK1 2 171850178 171850179 ABC1_LUNG 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 ABC1_LUNG 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNK2 3 195612200 195612200 ABC1_LUNG 37 Intron SNP C T uc003fvt.1 TNK2_uc003fvs.1... Hybrid_Cap... view
TP53 p.P278S 17 7577106 7577106 ABC1_LUNG 37 Missense_Mutation SNP G A rs17849781 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 ABC1_LUNG 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRADD p.G303V 16 67188583 67188583 ABC1_LUNG 37 Missense_Mutation SNP C A uc002eri.1 TRADD_uc002erh.... Hybrid_Cap... view
TRIM42 p.H139P 3 140401378 140401378 ABC1_LUNG 37 Missense_Mutation SNP A C uc003eto.1 Hybrid_Cap... view
TRIO p.Y2075C 5 14479440 14479440 ABC1_LUNG 37 Missense_Mutation SNP A G uc003jff.2 TRIO_uc003jfg.2... Hybrid_Cap... view
TTN 2 179391639 179391640 ABC1_LUNG 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.E2213G 2 179639800 179639800 ABC1_LUNG 37 Missense_Mutation SNP T C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.R1605_splice 2 179641777 179641777 ABC1_LUNG 37 Splice_Site_SNP SNP C A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 ABC1_LUNG 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VRK3 p.SCSPQKT127del 19 50510972 50510992 ABC1_LUNG 37 In_Frame_Del Del CTGGT... - rs117711287;rs117077533 uc002prg.2 VRK3_uc002prh.1... Hybrid_Cap...
ZNF423 p.R967G 16 49670164 49670164 ABC1_LUNG 37 Missense_Mutation SNP G C uc002efs.2 ZNF423_uc010vgn... Hybrid_Cap... view