Annotation Summary for Cell Line: RERF-LC-Sq1  

Cell line primary name: RERF-LC-Sq1
Cell line aliases:
Gender: F
Site Primary: lung
Histology: carcinoma
Hist Subtype1: squamous_cell_carcinoma
Notes:
Source: HSRRB
Expression arrays: METIS_p_NCLE_RNA1_Human_U133_Plus_2.0_E07_240958
SNP arrays: LOBBY_p_NCLE_DNAAffy6_GenomeWideSNP_6_A09_437332
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in RERF-LC-Sq1

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
AAK1 2 69702913 69702913 RERFLCSQ1_LUNG 37 3'UTR SNP T A rs60198736 uc002sfp.2 Hybrid_Cap... view
ABCA3 p.V781M 16 2345664 2345664 RERFLCSQ1_LUNG 37 Missense_Mutation SNP C T uc002cpy.1 ABCA3_uc010bsk.... Hybrid_Cap... view
ABL2 1 179086419 179086420 RERFLCSQ1_LUNG 37 Intron Ins - A rs72207641 uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 RERFLCSQ1_LUNG 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTS18 p.G892_splice 16 77331314 77331314 RERFLCSQ1_LUNG 37 Splice_Site_SNP SNP T C uc002ffc.3 ADAMTS18_uc010c... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 RERFLCSQ1_LUNG 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALS2 2 202587706 202587707 RERFLCSQ1_LUNG 37 Intron Ins - A rs3219165 uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap...
AURKC 19 57742494 57742507 RERFLCSQ1_LUNG 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BCL9 p.M1013T 1 147094207 147094207 RERFLCSQ1_LUNG 37 Missense_Mutation SNP T C uc001epq.2 BCL9_uc010ozr.1... Hybrid_Cap... view
BMP2K p.QQQ484del 4 79792137 79792145 RERFLCSQ1_LUNG 37 In_Frame_Del Del CAGCA... - rs17855588 uc003hlk.2 BMP2K_uc010ijl.... Hybrid_Cap...
CACNB2 10 18828721 18828722 RERFLCSQ1_LUNG 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAMKK2 12 121698269 121698269 RERFLCSQ1_LUNG 37 Intron SNP A G uc001tzu.2 CAMKK2_uc001tzt... Hybrid_Cap... view
CDH11 p.G787C 16 64981538 64981538 RERFLCSQ1_LUNG 37 Missense_Mutation SNP C A uc002eoi.2 CDH11_uc010cdn.... Hybrid_Cap... view
CDH11 p.D790E 16 64981527 64981527 RERFLCSQ1_LUNG 37 Missense_Mutation SNP G T uc002eoi.2 CDH11_uc010cdn.... Hybrid_Cap... view
CDK11B 1 1654066 1654068 RERFLCSQ1_LUNG 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CHD8 14 21853630 21853630 RERFLCSQ1_LUNG 37 3'UTR Del T - rs78520772 uc001was.1 CHD8_uc001war.1... Hybrid_Cap...
CLP1 p.E175Q 11 57427471 57427471 RERFLCSQ1_LUNG 37 Missense_Mutation SNP G C uc001nkw.2 CLP1_uc010rjw.1... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 RERFLCSQ1_LUNG 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CSMD3 p.S3306I 8 113267602 113267602 RERFLCSQ1_LUNG 37 Missense_Mutation SNP C A uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
DACH1 13 72014625 72014626 RERFLCSQ1_LUNG 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DGKB 7 14216345 14216346 RERFLCSQ1_LUNG 37 Intron Ins - AGACT uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap...
DYRK1A 21 38884966 38884967 RERFLCSQ1_LUNG 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EP300 22 41575059 41575060 RERFLCSQ1_LUNG 37 3'UTR Del AC - uc003azl.3 Hybrid_Cap...
EPHA6 3 97367230 97367231 RERFLCSQ1_LUNG 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
FBN2 p.S2512C 5 127611790 127611790 RERFLCSQ1_LUNG 37 Missense_Mutation SNP T A uc003kuu.2 Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 RERFLCSQ1_LUNG 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR4 5 176524798 176524798 RERFLCSQ1_LUNG 37 3'UTR SNP G A uc003mfl.2 FGFR4_uc003mfm.... Hybrid_Cap... view
FLI1 11 128638217 128638217 RERFLCSQ1_LUNG 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNC p.G1891S 7 128491511 128491511 RERFLCSQ1_LUNG 37 Missense_Mutation SNP G A uc003vnz.3 FLNC_uc003voa.3... Hybrid_Cap... view
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 RERFLCSQ1_LUNG 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FN1 2 216244182 216244185 RERFLCSQ1_LUNG 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FOXP1 3 71008341 71008342 RERFLCSQ1_LUNG 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 RERFLCSQ1_LUNG 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 RERFLCSQ1_LUNG 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRK7 p.G201fs 3 141497729 141497729 RERFLCSQ1_LUNG 37 Frame_Shift_Del Del T - uc011bnd.1 Hybrid_Cap...
GUCY2C 12 14827464 14827466 RERFLCSQ1_LUNG 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 RERFLCSQ1_LUNG 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 RERFLCSQ1_LUNG 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 RERFLCSQ1_LUNG 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
ID1 p.N70D 20 30193398 30193398 RERFLCSQ1_LUNG 37 Missense_Mutation SNP A G uc002wwg.1 ID1_uc002wwh.1_... Hybrid_Cap... view
ILK 11 6630029 6630029 RERFLCSQ1_LUNG 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
IRAK3 p.L281P 12 66622105 66622105 RERFLCSQ1_LUNG 37 Missense_Mutation SNP T C uc001sth.2 IRAK3_uc010ssy.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 RERFLCSQ1_LUNG 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KALRN p.L452Q 3 124048784 124048784 RERFLCSQ1_LUNG 37 Missense_Mutation SNP T A uc003ehg.2 KALRN_uc010hrv.... Hybrid_Cap... view
KLK7 19 51480672 51480675 RERFLCSQ1_LUNG 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LRP2 p.N1280S 2 170097704 170097704 RERFLCSQ1_LUNG 37 Missense_Mutation SNP T C uc002ues.2 LRP2_uc010zdf.1... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 RERFLCSQ1_LUNG 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 RERFLCSQ1_LUNG 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K1 p.I1216T 5 56178674 56178674 RERFLCSQ1_LUNG 37 Missense_Mutation SNP T C uc003jqw.3 Hybrid_Cap... view
MAP3K14 p.R218_splice 17 43364293 43364294 RERFLCSQ1_LUNG 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MEF2A p.QQP429del 15 100252736 100252744 RERFLCSQ1_LUNG 37 In_Frame_Del Del GCAGC... - uc010urw.1 MEF2A_uc010urv.... Hybrid_Cap...
MLL3 p.Y816fs 7 151945071 151945072 RERFLCSQ1_LUNG 37 Frame_Shift_Ins Ins - T uc003wla.2 Hybrid_Cap...
MLLT10 p.R330R 10 21959572 21959572 RERFLCSQ1_LUNG 37 Silent SNP A G uc001iqs.2 MLLT10_uc001iqt... Hybrid_Cap... view
MSH3 p.PPA66del 5 79950742 79950750 RERFLCSQ1_LUNG 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MYLK p.E1066del 3 123419117 123419119 RERFLCSQ1_LUNG 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
MYLK p.P443T 3 123451932 123451932 RERFLCSQ1_LUNG 37 Missense_Mutation SNP G T rs35156360 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap... view
MYST4 p.E1104del 10 76781906 76781908 RERFLCSQ1_LUNG 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
NCAM1 11 112832307 112832308 RERFLCSQ1_LUNG 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 RERFLCSQ1_LUNG 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.M1362V 20 46281287 46281287 RERFLCSQ1_LUNG 37 Missense_Mutation SNP A G uc002xtk.2 NCOA3_uc002xtl.... Hybrid_Cap... view
NEK1 p.K200E 4 170508718 170508718 RERFLCSQ1_LUNG 37 Missense_Mutation SNP T C uc003isd.1 NEK1_uc003isb.1... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 RERFLCSQ1_LUNG 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NF1 p.I1482T 17 29587401 29587401 RERFLCSQ1_LUNG 37 Missense_Mutation SNP T C uc002hgg.2 NF1_uc002hgh.2_... Hybrid_Cap... view
NFIA 1 61921185 61921186 RERFLCSQ1_LUNG 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NPR1 1 153665919 153665920 RERFLCSQ1_LUNG 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 RERFLCSQ1_LUNG 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAX3 2 223066017 223066018 RERFLCSQ1_LUNG 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 RERFLCSQ1_LUNG 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.E243fs 1 144923729 144923729 RERFLCSQ1_LUNG 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PGR 11 100933598 100933599 RERFLCSQ1_LUNG 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2A 11 17111198 17111199 RERFLCSQ1_LUNG 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PIK3CA p.E545K 3 178936091 178936091 RERFLCSQ1_LUNG 37 Missense_Mutation SNP G A rs104886003 uc003fjk.2 Hybrid_Cap... view
PIK3CG p.I220M 7 106508666 106508666 RERFLCSQ1_LUNG 37 Missense_Mutation SNP C G uc003vdv.3 PIK3CG_uc003vdu... Hybrid_Cap... view
PLEKHA5 p.K428Q 12 19427886 19427886 RERFLCSQ1_LUNG 37 Missense_Mutation SNP A C uc010sie.1 PLEKHA5_uc001re... Hybrid_Cap... view
PMS1 2 190670539 190670540 RERFLCSQ1_LUNG 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PRKDC p.E1715Q 8 48792144 48792144 RERFLCSQ1_LUNG 37 Missense_Mutation SNP C G uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 RERFLCSQ1_LUNG 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 RERFLCSQ1_LUNG 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
SEPT3 22 42390746 42390746 RERFLCSQ1_LUNG 37 Intron SNP G A uc003bbr.3 WBP2NL_uc011ape... Hybrid_Cap... view
STARD3 17 37814383 37814383 RERFLCSQ1_LUNG 37 Intron SNP G A rs75931434 uc002hsd.2 STARD3_uc010weg... Hybrid_Cap... view
STK31 7 23872024 23872025 RERFLCSQ1_LUNG 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STK4 p.R117Q 20 43610574 43610574 RERFLCSQ1_LUNG 37 Missense_Mutation SNP G A uc002xnb.2 STK4_uc010ggx.2... Hybrid_Cap... view
TEC 4 48139307 48139310 RERFLCSQ1_LUNG 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TGFB2 1 218519928 218519929 RERFLCSQ1_LUNG 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TIE1 p.V413M 1 43775107 43775107 RERFLCSQ1_LUNG 37 Missense_Mutation SNP G A uc001ciu.2 TIE1_uc010okd.1... Hybrid_Cap... view
TMEM123 11 102269398 102269398 RERFLCSQ1_LUNG 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TP63 3 189507518 189507519 RERFLCSQ1_LUNG 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRPS1 8 116635872 116635873 RERFLCSQ1_LUNG 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN 2 179391639 179391640 RERFLCSQ1_LUNG 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.T13425N 2 179481638 179481638 RERFLCSQ1_LUNG 37 Missense_Mutation SNP G T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.S2337R 2 179638980 179638980 RERFLCSQ1_LUNG 37 Missense_Mutation SNP G C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
UBE3B 12 109947357 109947358 RERFLCSQ1_LUNG 37 Intron Ins - T uc001top.2 UBE3B_uc001toq.... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 RERFLCSQ1_LUNG 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VPS13B p.K3931T 8 100883897 100883897 RERFLCSQ1_LUNG 37 Missense_Mutation SNP A C uc003yiv.2 VPS13B_uc003yiw... Hybrid_Cap... view
ZNF276 16 89805210 89805210 RERFLCSQ1_LUNG 37 3'UTR SNP C G rs34602467 uc002fos.3 ZNF276_uc010ciq... Hybrid_Cap... view