Annotation Summary for Cell Line: EFM-19  

Cell line primary name: EFM-19
Cell line aliases:
Gender: F
Site Primary: breast
Histology: carcinoma
Hist Subtype1: ductal_carcinoma
Notes:
Source: DSMZ
Expression arrays: NIECE_p_NCLE_RNA3_HG-U133_Plus_2_A05_295998
SNP arrays: LIMPS_p_NCLE_DNA2N_GenomeWideSNP_6_E11_246726
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in EFM-19

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 EFM19_BREAST 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ACACA p.I981M 17 35598958 35598958 EFM19_BREAST 37 Missense_Mutation SNP G C uc002hno.2 ACACA_uc002hnk.... Hybrid_Cap... view
ADAM28 8 24211994 24211997 EFM19_BREAST 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAM32 p.S727I 8 39128412 39128412 EFM19_BREAST 37 Missense_Mutation SNP G T uc003xmt.3 ADAM32_uc011lch... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 EFM19_BREAST 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 EFM19_BREAST 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK2 p.1388_1389FF>F 18 56203253 56203255 EFM19_BREAST 37 In_Frame_Del Del AAG - uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ALS2 2 202587706 202587707 EFM19_BREAST 37 Intron Ins - A rs3219165 uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap...
ANKK1 p.I401V 11 113269892 113269892 EFM19_BREAST 37 Missense_Mutation SNP A G uc001pny.2 Hybrid_Cap... view
AURKC 19 57742494 57742507 EFM19_BREAST 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BMP4 14 54416601 54416602 EFM19_BREAST 37 3'UTR Ins - A rs74495140;rs76335800 uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap...
CACNB2 10 18828721 18828722 EFM19_BREAST 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CDH1 p.N674Y 16 68857385 68857385 EFM19_BREAST 37 Missense_Mutation SNP A T uc002ewg.1 CDH1_uc010vlj.1... Hybrid_Cap... view
CEP110 9 123939727 123939728 EFM19_BREAST 37 3'UTR Ins - A uc004bkx.1 CEP110_uc004blb... Hybrid_Cap...
CHD1 p.P1684del 5 98192165 98192167 EFM19_BREAST 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHIC2 4 54876132 54876132 EFM19_BREAST 37 3'UTR Del C - rs4437313 uc003haj.1 PDGFRA_uc003haa... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 EFM19_BREAST 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 22 19196673 19196674 EFM19_BREAST 37 Intron Ins - A uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CSMD3 p.D2510Y 8 113326679 113326679 EFM19_BREAST 37 Missense_Mutation SNP C A uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 p.I1644V 8 113516172 113516172 EFM19_BREAST 37 Missense_Mutation SNP T C uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
DACH1 13 72014625 72014626 EFM19_BREAST 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DDR2 1 162750211 162750212 EFM19_BREAST 37 3'UTR Del TT - uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap...
DGKB 7 14216205 14216205 EFM19_BREAST 37 Intron SNP G A uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap... view
EDN1 6 12290729 12290729 EFM19_BREAST 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EPHA6 3 97367230 97367231 EFM19_BREAST 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHB6 7 142568771 142568771 EFM19_BREAST 37 3'UTR Del C - uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap...
ERCC6 p.E1406K 10 50667127 50667127 EFM19_BREAST 37 Missense_Mutation SNP C T uc001jhs.3 ERCC6_uc009xod.... Hybrid_Cap... view
ETV1 7 14028708 14028708 EFM19_BREAST 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FBN2 5 127595046 127595048 EFM19_BREAST 37 3'UTR Del TTA - uc003kuu.2 Hybrid_Cap...
FGFR1OP 6 167453519 167453520 EFM19_BREAST 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR2 p.K660E 10 123247516 123247516 EFM19_BREAST 37 Missense_Mutation SNP T C uc010qtj.1 FGFR2_uc010qtg.... Hybrid_Cap... view
FLI1 11 128638217 128638217 EFM19_BREAST 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FMN2 1 240637606 240637606 EFM19_BREAST 37 3'UTR SNP T G uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap... view
FN1 2 216244182 216244185 EFM19_BREAST 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GMPS p.L401V 3 155633970 155633970 EFM19_BREAST 37 Missense_Mutation SNP T G uc003faq.2 GMPS_uc011bom.1... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 EFM19_BREAST 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 EFM19_BREAST 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIA3 p.S115F X 122387229 122387229 EFM19_BREAST 37 Missense_Mutation SNP C T uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap... view
GUCY1A2 p.A314V 11 106810451 106810451 EFM19_BREAST 37 Missense_Mutation SNP G A uc009yxn.1 GUCY1A2_uc001pj... Hybrid_Cap... view
HDAC4 p.S512R 2 240036991 240036991 EFM19_BREAST 37 Missense_Mutation SNP T G uc002vyk.3 HDAC4_uc010fyz.... Hybrid_Cap... view
HIF1A 14 62213929 62213930 EFM19_BREAST 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 EFM19_BREAST 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSPA1B 6 31797769 31797770 EFM19_BREAST 37 3'UTR Ins - AAGTT rs67206812 uc003nxk.2 Hybrid_Cap...
ILK 11 6630029 6630029 EFM19_BREAST 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 EFM19_BREAST 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
LZTR1 p.T181P 22 21343109 21343109 EFM19_BREAST 37 Missense_Mutation SNP A C uc002zto.2 LZTR1_uc002ztn.... Hybrid_Cap... view
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 EFM19_BREAST 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 EFM19_BREAST 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 15 66679649 66679650 EFM19_BREAST 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 EFM19_BREAST 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MLH1 3 37092174 37092176 EFM19_BREAST 37 3'UTR Del TTC - uc003cgl.2 MLH1_uc011aye.1... Hybrid_Cap...
MYST4 p.E1104del 10 76781906 76781908 EFM19_BREAST 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
MYST4 10 76790935 76790936 EFM19_BREAST 37 3'UTR Ins - A rs3832681 uc001jwn.1 MYST4_uc001jwo.... Hybrid_Cap...
NCAM1 11 112832307 112832308 EFM19_BREAST 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 EFM19_BREAST 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 EFM19_BREAST 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 EFM19_BREAST 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NPR1 1 153665919 153665920 EFM19_BREAST 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 EFM19_BREAST 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUMA1 p.Q684L 11 71726498 71726498 EFM19_BREAST 37 Missense_Mutation SNP T A uc001orl.1 NUMA1_uc009ysw.... Hybrid_Cap... view
PAX3 2 223158653 223158653 EFM19_BREAST 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PGR 11 100933598 100933599 EFM19_BREAST 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PHKG2 16 30768493 30768499 EFM19_BREAST 37 3'UTR Del CTCTG... - rs77175815 uc002dzi.1 PHKG2_uc002dzj.... Hybrid_Cap...
PIK3CA p.H1047L 3 178952085 178952085 EFM19_BREAST 37 Missense_Mutation SNP A T uc003fjk.2 Hybrid_Cap... view
PREX2 p.E1357* 8 69050734 69050734 EFM19_BREAST 37 Nonsense_Mutation SNP G T uc003xxv.1 Hybrid_Cap... view
PRKCQ p.R736Q 10 6470182 6470182 EFM19_BREAST 37 Missense_Mutation SNP C T uc001iji.1 PRKCQ_uc009xim.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 EFM19_BREAST 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTPN11 p.R512P 12 112926915 112926915 EFM19_BREAST 37 Missense_Mutation SNP G C uc001ttx.2 Hybrid_Cap... view
RBM15 p.A430T 1 110883315 110883315 EFM19_BREAST 37 Missense_Mutation SNP G A uc001dzl.1 RBM15_uc001dzm.... Hybrid_Cap... view
ROS1 p.S551F 6 117710620 117710620 EFM19_BREAST 37 Missense_Mutation SNP G A uc003pxp.1 ROS1_uc011ebi.1... Hybrid_Cap... view
RPS6 p.L15L 9 19379578 19379578 EFM19_BREAST 37 Silent SNP G A uc003znv.1 RPS6_uc003znu.1... Hybrid_Cap... view
SLCO4A1 p.H350Y 20 61292454 61292454 EFM19_BREAST 37 Missense_Mutation SNP C T uc002ydb.1 SLCO4A1_uc002yd... Hybrid_Cap... view
SP140 2 231177564 231177564 EFM19_BREAST 37 3'UTR SNP C A uc002vql.2 SP140_uc010zma.... Hybrid_Cap... view
STAT5A p.A603T 17 40459642 40459642 EFM19_BREAST 37 Missense_Mutation SNP G A uc002hzj.1 STAT5A_uc010cya... Hybrid_Cap... view
STAT5A 17 40460605 40460605 EFM19_BREAST 37 Intron SNP G C uc002hzj.1 STAT5A_uc010cya... Hybrid_Cap... view
STAT5A 17 40462740 40462740 EFM19_BREAST 37 3'UTR SNP G A uc002hzj.1 STAT5A_uc010cya... Hybrid_Cap... view
TEC 4 48139307 48139310 EFM19_BREAST 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TLN1 p.A640T 9 35718886 35718886 EFM19_BREAST 37 Missense_Mutation SNP C T uc003zxt.2 Hybrid_Cap... view
TP53 p.H193R 17 7578271 7578271 EFM19_BREAST 37 Missense_Mutation SNP T C uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TPM3 1 154131266 154131266 EFM19_BREAST 37 3'UTR SNP T G uc001fdz.1 TPM3_uc001fdx.1... Hybrid_Cap... view
TRIM37 p.E100* 17 57161434 57161434 EFM19_BREAST 37 Nonsense_Mutation SNP C A uc002iwy.3 TRIM37_uc002iwz... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 EFM19_BREAST 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
ZNF423 p.R1115W 16 49669720 49669720 EFM19_BREAST 37 Missense_Mutation SNP G A uc002efs.2 ZNF423_uc010vgn... Hybrid_Cap... view