Annotation Summary for Cell Line: RERF-LC-MS  

Cell line primary name: RERF-LC-MS
Cell line aliases:
Gender:
Site Primary: lung
Histology: carcinoma
Hist Subtype1: non_small_cell_carcinoma
Notes:
Source: HSRRB
Expression arrays: BRAKE_p_NCLE_RNA2_HG-U133_Plus_2_G12_241208
SNP arrays: HONEY_p_NCLE_DNAAffy3_S_GenomeWideSNP_6_D12_293374
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in RERF-LC-MS

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 RERFLCMS_LUNG 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM28 8 24211994 24211997 RERFLCMS_LUNG 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AFF4 p.A1094T 5 132219116 132219116 RERFLCMS_LUNG 37 Missense_Mutation SNP C T uc003kyd.2 AFF4_uc011cxk.1... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 RERFLCMS_LUNG 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 RERFLCMS_LUNG 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK1 4 113347609 113347610 RERFLCMS_LUNG 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 RERFLCMS_LUNG 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
AURKC 19 57742531 57742532 RERFLCMS_LUNG 37 5'UTR Ins - C uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BLM 15 91303326 91303326 RERFLCMS_LUNG 37 Intron Del T - uc002bpr.2 BLM_uc010uqh.1_... Hybrid_Cap...
BLM p.R791C 15 91312426 91312426 RERFLCMS_LUNG 37 Missense_Mutation SNP C T rs55880859 uc002bpr.2 BLM_uc010uqh.1_... Hybrid_Cap... view
CACNB2 10 18828721 18828722 RERFLCMS_LUNG 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CARD10 p.KE272del 22 37906309 37906314 RERFLCMS_LUNG 37 In_Frame_Del Del CTCCT... - uc003asx.1 CARD10_uc003ast... Hybrid_Cap...
CCNA2 p.V72_splice 4 122743803 122743804 RERFLCMS_LUNG 37 Splice_Site_Ins Ins - A uc003iec.3 Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 RERFLCMS_LUNG 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 22 19196673 19196674 RERFLCMS_LUNG 37 Intron Ins - A uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CYP24A1 p.R120H 20 52789538 52789538 RERFLCMS_LUNG 37 Missense_Mutation SNP C T rs114476330 uc002xwv.2 CYP24A1_uc002xw... Hybrid_Cap... view
DAB1 p.V129I 1 57538009 57538009 RERFLCMS_LUNG 37 Missense_Mutation SNP C T uc001cys.1 DAB1_uc001cyt.1... Hybrid_Cap... view
DLC1 p.R338H 8 13356568 13356568 RERFLCMS_LUNG 37 Missense_Mutation SNP C T uc003wwm.2 DLC1_uc003wwn.2... Hybrid_Cap... view
EPHA6 3 97367230 97367231 RERFLCMS_LUNG 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHB6 p.A329D 7 142563269 142563269 RERFLCMS_LUNG 37 Missense_Mutation SNP C A uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap... view
EPS15 1 51887651 51887651 RERFLCMS_LUNG 37 Intron SNP T C uc001csq.1 EPS15_uc009vyz.... Hybrid_Cap... view
EXT2 11 44265966 44265966 RERFLCMS_LUNG 37 3'UTR SNP C G uc001mya.2 EXT2_uc010rfo.1... Hybrid_Cap... view
EXT2 11 44265976 44265976 RERFLCMS_LUNG 37 3'UTR SNP C G uc001mya.2 EXT2_uc010rfo.1... Hybrid_Cap... view
FANCD2 3 10143086 10143087 RERFLCMS_LUNG 37 3'UTR Ins - A uc003bux.1 FANCD2_uc003buy... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 RERFLCMS_LUNG 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FN1 2 216244182 216244185 RERFLCMS_LUNG 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 RERFLCMS_LUNG 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 RERFLCMS_LUNG 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 RERFLCMS_LUNG 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 RERFLCMS_LUNG 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
IL1R1 p.L560V 2 102793187 102793187 RERFLCMS_LUNG 37 Missense_Mutation SNP C G rs117919760 uc002tbq.2 IL1R1_uc010fix.... Hybrid_Cap... view
KLK7 19 51480672 51480675 RERFLCMS_LUNG 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LTK p.R569H 15 41797720 41797720 RERFLCMS_LUNG 37 Missense_Mutation SNP C T uc001zoa.3 LTK_uc001zob.3_... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 RERFLCMS_LUNG 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 RERFLCMS_LUNG 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 RERFLCMS_LUNG 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K5 6 136878752 136878752 RERFLCMS_LUNG 37 3'UTR Del T - rs79903899 uc003qhc.2 MAP3K5_uc011edj... Hybrid_Cap...
MAPK7 p.A296T 17 19284408 19284408 RERFLCMS_LUNG 37 Missense_Mutation SNP G A uc002gvn.2 B9D1_uc010cqm.1... Hybrid_Cap... view
MAPKAPK3 p.R360W 3 50685406 50685406 RERFLCMS_LUNG 37 Missense_Mutation SNP C T uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap... view
MECOM 3 169381200 169381201 RERFLCMS_LUNG 37 5'UTR Ins - T uc011bpj.1 MECOM_uc011bpk.... Hybrid_Cap...
MLH1 p.R217C 3 37053562 37053562 RERFLCMS_LUNG 37 Missense_Mutation SNP C T rs4986984 uc003cgl.2 MLH1_uc011aye.1... Hybrid_Cap... view
MSH2 p.A733T 2 47703697 47703697 RERFLCMS_LUNG 37 Missense_Mutation SNP G A uc002rvz.2 MSH2_uc010yoh.1... Hybrid_Cap... view
MYST4 p.E1104del 10 76781906 76781908 RERFLCMS_LUNG 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
NACA p.K1568R 12 57110611 57110611 RERFLCMS_LUNG 37 Missense_Mutation SNP T C uc009zoy.1 NACA_uc001slz.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 RERFLCMS_LUNG 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 RERFLCMS_LUNG 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NFIA 1 61921185 61921186 RERFLCMS_LUNG 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NOS3 p.R128Q 7 150693604 150693604 RERFLCMS_LUNG 37 Missense_Mutation SNP G A uc003wif.2 NOS3_uc011kuy.1... Hybrid_Cap... view
NOTCH4 p.15_16LL>L 6 32191659 32191661 RERFLCMS_LUNG 37 In_Frame_Del Del AGC - uc003obb.2 NOTCH4_uc011dpu... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 RERFLCMS_LUNG 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR3C1 5 142661420 142661420 RERFLCMS_LUNG 37 3'UTR SNP A G uc003lmy.2 NR3C1_uc003lmz.... Hybrid_Cap... view
NTRK3 p.V21F 15 88799324 88799324 RERFLCMS_LUNG 37 Missense_Mutation SNP C A uc002bme.1 NTRK3_uc002bmh.... Hybrid_Cap... view
NUP98 p.P1164H 11 3723714 3723714 RERFLCMS_LUNG 37 Missense_Mutation SNP G T uc001lyh.2 NUP98_uc001lyi.... Hybrid_Cap... view
PAK4 19 39660175 39660175 RERFLCMS_LUNG 37 5'UTR SNP G A uc002okj.1 PAK4_uc002okl.1... Hybrid_Cap... view
PAX3 2 223066017 223066018 RERFLCMS_LUNG 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 RERFLCMS_LUNG 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX5 p.T251N 9 36966574 36966574 RERFLCMS_LUNG 37 Missense_Mutation SNP G T uc003zzo.1 PAX5_uc011lpt.1... Hybrid_Cap... view
PDE4DIP p.L601fs 1 144915624 144915624 RERFLCMS_LUNG 37 Frame_Shift_Del Del G - rs1778112 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.E243fs 1 144923729 144923729 RERFLCMS_LUNG 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PGGT1B 5 114548071 114548072 RERFLCMS_LUNG 37 3'UTR Ins - C uc003kqw.3 PGGT1B_uc003kqx... Hybrid_Cap...
PIK3C2A 11 17111198 17111199 RERFLCMS_LUNG 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PRKCA 17 64298959 64298960 RERFLCMS_LUNG 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 RERFLCMS_LUNG 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 RERFLCMS_LUNG 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RHOH 4 40245660 40245660 RERFLCMS_LUNG 37 3'UTR SNP A G uc003guz.2 Hybrid_Cap... view
RNASEL p.A140S 1 182555524 182555524 RERFLCMS_LUNG 37 Missense_Mutation SNP C A uc001gpj.1 RNASEL_uc009wxz... Hybrid_Cap... view
ROBO2 3 77666937 77666937 RERFLCMS_LUNG 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
SLC45A3 1 205633796 205633796 RERFLCMS_LUNG 37 5'UTR SNP C T uc001hda.1 SLC45A3_uc010pr... Hybrid_Cap... view
TEC 4 48139307 48139310 RERFLCMS_LUNG 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TLR3 p.G12R 4 186997807 186997807 RERFLCMS_LUNG 37 Missense_Mutation SNP G C uc003iyq.2 Hybrid_Cap... view
TMEM123 11 102269398 102269398 RERFLCMS_LUNG 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNKS2 10 93622881 93622881 RERFLCMS_LUNG 37 3'UTR SNP A C uc001khp.2 Hybrid_Cap... view
TP53 p.F134fs 17 7578527 7578528 RERFLCMS_LUNG 37 Frame_Shift_Del Del AA - uc002gim.2 TP53_uc002gig.1... Hybrid_Cap...
TP63 3 189507518 189507519 RERFLCMS_LUNG 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRPS1 8 116635872 116635873 RERFLCMS_LUNG 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN 2 179391639 179391640 RERFLCMS_LUNG 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
UBR5 p.R1907H 8 103293724 103293724 RERFLCMS_LUNG 37 Missense_Mutation SNP C T uc003ykr.1 UBR5_uc003yks.1... Hybrid_Cap... view
ULK4 p.P124S 3 41977301 41977301 RERFLCMS_LUNG 37 Missense_Mutation SNP G A uc003ckv.3 ULK4_uc003ckw.2... Hybrid_Cap... view
VEGFC 4 177605074 177605074 RERFLCMS_LUNG 37 3'UTR SNP A G uc003ius.1 Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 RERFLCMS_LUNG 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
YSK4 p.R473K 2 135745024 135745024 RERFLCMS_LUNG 37 Missense_Mutation SNP C T uc002tue.1 YSK4_uc002tuf.1... Hybrid_Cap... view