Annotation Summary for Cell Line: EFM-192A  

Cell line primary name: EFM-192A
Cell line aliases:
Gender: F
Site Primary: breast
Histology: carcinoma
Hist Subtype1: NS
Notes:
Source: DSMZ
Expression arrays: METIS_p_NCLE_RNA1_Human_U133_Plus_2.0_B11_240894
SNP arrays: LIMPS_p_NCLE_DNA2N_GenomeWideSNP_6_H09_246794
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in EFM-192A

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 EFM192A_BREAST 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABL2 1 179086419 179086420 EFM192A_BREAST 37 Intron Ins - A rs72207641 uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap...
ACACA 17 35766564 35766564 EFM192A_BREAST 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAM28 8 24211994 24211997 EFM192A_BREAST 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 EFM192A_BREAST 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP6 p.A2067P 14 33293218 33293218 EFM192A_BREAST 37 Missense_Mutation SNP G C uc001wrq.2 Hybrid_Cap... view
ALPK1 4 113347609 113347610 EFM192A_BREAST 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 EFM192A_BREAST 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
AURKC 19 57742494 57742507 EFM192A_BREAST 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
CD40LG p.H125N X 135738541 135738541 EFM192A_BREAST 37 Missense_Mutation SNP C A uc004faa.2 CD40LG_uc010nsd... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 EFM192A_BREAST 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 EFM192A_BREAST 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CXCL12 10 44873992 44873993 EFM192A_BREAST 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
CYP27B1 12 58159068 58159068 EFM192A_BREAST 37 Intron SNP C T uc001spz.1 CYP27B1_uc001sq... Hybrid_Cap... view
DDR2 1 162750211 162750212 EFM192A_BREAST 37 3'UTR Del TT - uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap...
EP300 22 41574970 41574972 EFM192A_BREAST 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA6 3 97467610 97467611 EFM192A_BREAST 37 3'UTR Ins - CT uc010how.1 Hybrid_Cap...
EPHA7 p.Y365* 6 94066664 94066664 EFM192A_BREAST 37 Nonsense_Mutation SNP G T uc003poe.2 EPHA7_uc003pof.... Hybrid_Cap... view
FAM123B p.D233G X 63412469 63412469 EFM192A_BREAST 37 Missense_Mutation SNP T C uc004dvo.2 Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 EFM192A_BREAST 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 EFM192A_BREAST 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 EFM192A_BREAST 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNA X 153577132 153577133 EFM192A_BREAST 37 3'UTR Ins - CA rs10692455;rs71733538 uc004fkk.2 FLNA_uc004fki.2... Hybrid_Cap...
GRIA3 X 122318386 122318387 EFM192A_BREAST 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 EFM192A_BREAST 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 EFM192A_BREAST 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 EFM192A_BREAST 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 EFM192A_BREAST 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
KLK7 19 51480672 51480675 EFM192A_BREAST 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LMTK3 19 48988901 48988901 EFM192A_BREAST 37 3'UTR SNP G A uc002pjk.2 Hybrid_Cap... view
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 EFM192A_BREAST 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 EFM192A_BREAST 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 EFM192A_BREAST 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 EFM192A_BREAST 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K14 p.E767G 17 43344799 43344799 EFM192A_BREAST 37 Missense_Mutation SNP T C uc002iiw.1 LOC100133991_uc... Hybrid_Cap... view
NCAM1 11 112832307 112832308 EFM192A_BREAST 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 EFM192A_BREAST 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 EFM192A_BREAST 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NCOA3 20 46282339 46282340 EFM192A_BREAST 37 3'UTR Ins - AT uc002xtk.2 NCOA3_uc002xtl.... Hybrid_Cap...
NF1 p.Q347H 17 29527592 29527592 EFM192A_BREAST 37 Missense_Mutation SNP G T uc002hgg.2 NF1_uc002hge.1_... Hybrid_Cap... view
NOTCH2 p.D661E 1 120502058 120502058 EFM192A_BREAST 37 Missense_Mutation SNP A T uc001eik.2 NOTCH2_uc001eil... Hybrid_Cap... view
NPAT p.S726del 11 108043536 108043538 EFM192A_BREAST 37 In_Frame_Del Del AGA - uc001pjz.3 NPAT_uc010rvv.1... Hybrid_Cap...
NPM1 5 170837734 170837734 EFM192A_BREAST 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 EFM192A_BREAST 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAX3 2 223158653 223158653 EFM192A_BREAST 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.L601fs 1 144915624 144915624 EFM192A_BREAST 37 Frame_Shift_Del Del G - rs1778112 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.E243fs 1 144923729 144923729 EFM192A_BREAST 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP 1 144931785 144931785 EFM192A_BREAST 37 Intron SNP G A uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDGFRA 4 55131002 55131002 EFM192A_BREAST 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PIK3C2B p.L1283* 1 204402549 204402549 EFM192A_BREAST 37 Nonsense_Mutation SNP A T uc001haw.2 PIK3C2B_uc010pq... Hybrid_Cap... view
PIK3CA p.C420R 3 178927980 178927980 EFM192A_BREAST 37 Missense_Mutation SNP T C uc003fjk.2 Hybrid_Cap... view
PLCG2 16 81954996 81954997 EFM192A_BREAST 37 Intron Ins - T uc002fgt.2 PLCG2_uc010chg.... Hybrid_Cap...
PMS1 2 190670539 190670540 EFM192A_BREAST 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PREX2 8 69143713 69143714 EFM192A_BREAST 37 3'UTR Del TT - uc003xxv.1 Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 EFM192A_BREAST 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTPRU p.R618C 1 29606637 29606637 EFM192A_BREAST 37 Missense_Mutation SNP C T uc001bru.2 PTPRU_uc001brv.... Hybrid_Cap... view
RBPJ p.R238* 4 26426291 26426291 EFM192A_BREAST 37 Nonsense_Mutation SNP C T rs5007634 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 EFM192A_BREAST 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RGL2 6 33261348 33261348 EFM192A_BREAST 37 Intron SNP A G uc003odv.2 RGL2_uc003odu.2... Hybrid_Cap... view
RPS6KB1 17 58024224 58024225 EFM192A_BREAST 37 3'UTR Ins - AA rs67846207 uc002ixy.2 RPS6KB1_uc010dd... Hybrid_Cap...
SLC29A1 p.R307C 6 44198397 44198397 EFM192A_BREAST 37 Missense_Mutation SNP C T uc003oww.1 SLC29A1_uc003ow... Hybrid_Cap... view
STK32C p.P272P 10 134038836 134038836 EFM192A_BREAST 37 Silent SNP C T uc010quu.1 STK32C_uc001lld... Hybrid_Cap... view
TFDP1 p.P389P 13 114294516 114294516 EFM192A_BREAST 37 Silent SNP G A uc001vtw.2 TFDP1_uc010tkd.... Hybrid_Cap... view
TGFB2 1 218519928 218519929 EFM192A_BREAST 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TLK1 2 171850178 171850179 EFM192A_BREAST 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TP53 p.F270fs 17 7577127 7577128 EFM192A_BREAST 37 Frame_Shift_Ins Ins - A rs67389650 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap...
TP63 3 189507518 189507519 EFM192A_BREAST 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIM33 1 114940215 114940216 EFM192A_BREAST 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRPM6 p.P1951S 9 77343239 77343239 EFM192A_BREAST 37 Missense_Mutation SNP G A uc004ajl.1 TRPM6_uc004ajk.... Hybrid_Cap... view
TRPS1 8 116635872 116635873 EFM192A_BREAST 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 EFM192A_BREAST 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
ZNF217 p.Y17F 20 52199316 52199316 EFM192A_BREAST 37 Missense_Mutation SNP T A uc002xwq.3 ZNF217_uc010gij... Hybrid_Cap... view