Annotation Summary for Cell Line: RL  

Cell line primary name: RL
Cell line aliases:
Gender: M
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: B_cell_lymphoma_unspecified
Notes:
Source: ATCC
Expression arrays: NIECE_p_NCLE_RNA3_HG-U133_Plus_2_A07_296002
SNP arrays: LIMPS_p_NCLE_DNA2N_GenomeWideSNP_6_D07_246694
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in RL

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ADAM17 2 9630245 9630245 RL_HAEMATOPOIET... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM18 8 39468365 39468365 RL_HAEMATOPOIET... 37 Intron SNP G T uc003xni.2 ADAM18_uc003xnh... Hybrid_Cap... view
ADAM28 8 24211994 24211997 RL_HAEMATOPOIET... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AFF1 4 88056987 88056987 RL_HAEMATOPOIET... 37 3'UTR SNP T C uc011ccz.1 AFF1_uc003hqj.3... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 RL_HAEMATOPOIET... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 RL_HAEMATOPOIET... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
AKAP9 p.P3117T 7 91718834 91718834 RL_HAEMATOPOIET... 37 Missense_Mutation SNP C A uc003ulg.2 AKAP9_uc003ulf.... Hybrid_Cap... view
ALPK2 p.EDTST1006del 18 56204388 56204402 RL_HAEMATOPOIET... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ATP13A5 p.P503fs 3 193044800 193044800 RL_HAEMATOPOIET... 37 Frame_Shift_Del Del G - uc011bsq.1 Hybrid_Cap...
BMP4 14 54416601 54416602 RL_HAEMATOPOIET... 37 3'UTR Ins - A rs74495140;rs76335800 uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap...
BTG1 12 92537706 92537707 RL_HAEMATOPOIET... 37 3'UTR Ins - TT rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
BUB1B 15 40513090 40513090 RL_HAEMATOPOIET... 37 3'UTR SNP G A uc001zkx.3 PAK6_uc010bbl.2... Hybrid_Cap... view
CACNB2 10 18828721 18828722 RL_HAEMATOPOIET... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CDH2 p.D296N 18 25583095 25583095 RL_HAEMATOPOIET... 37 Missense_Mutation SNP C T uc002kwg.2 CDH2_uc010xbn.1... Hybrid_Cap... view
CDK11B 1 1654066 1654068 RL_HAEMATOPOIET... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 RL_HAEMATOPOIET... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CXCR7 p.Y143C 2 237489536 237489536 RL_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc010fyq.2 CXCR7_uc002vwd.... Hybrid_Cap... view
CYP1A2 p.D152G 15 75042534 75042534 RL_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc002ayr.1 Hybrid_Cap... view
DLC1 8 12943307 12943307 RL_HAEMATOPOIET... 37 3'UTR SNP G A uc003wwm.2 DLC1_uc003wwk.1... Hybrid_Cap... view
DLC1 p.E1301* 8 12947934 12947934 RL_HAEMATOPOIET... 37 Nonsense_Mutation SNP C A uc003wwm.2 DLC1_uc003wwk.1... Hybrid_Cap... view
DPYD p.A777Y 1 97700520 97700521 RL_HAEMATOPOIET... 37 Missense_Mutation DNP GC TA uc001drv.2 Hybrid_Cap...
DYRK1A 21 38884966 38884967 RL_HAEMATOPOIET... 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EDN1 6 12290729 12290729 RL_HAEMATOPOIET... 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EIF2AK4 p.N469H 15 40259932 40259932 RL_HAEMATOPOIET... 37 Missense_Mutation SNP A C uc001zkm.1 EIF2AK4_uc001zk... Hybrid_Cap... view
EP300 p.E1011* 22 41548243 41548243 RL_HAEMATOPOIET... 37 Nonsense_Mutation SNP G T uc003azl.3 Hybrid_Cap... view
EP300 p.H1415P 22 41565578 41565578 RL_HAEMATOPOIET... 37 Missense_Mutation SNP A C uc003azl.3 Hybrid_Cap... view
ERC1 12 1599454 1599454 RL_HAEMATOPOIET... 37 3'UTR SNP C T uc001qjb.2 ERC1_uc001qiz.2... Hybrid_Cap... view
ETV1 7 14028708 14028708 RL_HAEMATOPOIET... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FBN1 p.M1576T 15 48760155 48760155 RL_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc001zwx.1 FBN1_uc010beo.1... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 RL_HAEMATOPOIET... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 RL_HAEMATOPOIET... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 RL_HAEMATOPOIET... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FMN2 1 240637486 240637486 RL_HAEMATOPOIET... 37 3'UTR SNP G A uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap... view
FN1 2 216244182 216244185 RL_HAEMATOPOIET... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FRK p.D489G 6 116263629 116263629 RL_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc003pwi.1 Hybrid_Cap... view
GCNT2 6 10530117 10530117 RL_HAEMATOPOIET... 37 Intron SNP T A uc010joo.2 GCNT2_uc010jol.... Hybrid_Cap... view
GLI2 p.H752Y 2 121744151 121744151 RL_HAEMATOPOIET... 37 Missense_Mutation SNP C T uc010flp.2 GLI2_uc002tmq.1... Hybrid_Cap... view
GRIA3 X 122318386 122318387 RL_HAEMATOPOIET... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 RL_HAEMATOPOIET... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 RL_HAEMATOPOIET... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 RL_HAEMATOPOIET... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 RL_HAEMATOPOIET... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INPP4B p.32_33IQ>M* 4 143350365 143350366 RL_HAEMATOPOIET... 37 Nonsense_Mutation DNP GG AC uc003iix.3 INPP4B_uc003iiw... Hybrid_Cap...
ITGB6 p.N531D 2 160994014 160994014 RL_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc002ubh.2 ITGB6_uc010fou.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 RL_HAEMATOPOIET... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JARID2 p.V328I 6 15496438 15496438 RL_HAEMATOPOIET... 37 Missense_Mutation SNP G A uc003nbj.2 JARID2_uc011diu... Hybrid_Cap... view
KLK7 19 51480672 51480675 RL_HAEMATOPOIET... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
MAF 16 79628537 79628537 RL_HAEMATOPOIET... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 RL_HAEMATOPOIET... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAML3 p.T129A 4 141074097 141074097 RL_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc003ihz.1 MAML3_uc011chd.... Hybrid_Cap... view
MAP3K1 p.T949del 5 56177849 56177851 RL_HAEMATOPOIET... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 RL_HAEMATOPOIET... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K5 6 136878752 136878752 RL_HAEMATOPOIET... 37 3'UTR Del T - rs79903899 uc003qhc.2 MAP3K5_uc011edj... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 RL_HAEMATOPOIET... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MCF2 X 138724842 138724842 RL_HAEMATOPOIET... 37 Intron Del A - uc011mwo.1 MCF2_uc004fau.2... Hybrid_Cap...
MEF2A p.QQ428del 15 100252710 100252715 RL_HAEMATOPOIET... 37 In_Frame_Del Del CAGCA... - uc010urw.1 MEF2A_uc010urv.... Hybrid_Cap...
MLL3 p.Q4140* 7 151849898 151849898 RL_HAEMATOPOIET... 37 Nonsense_Mutation SNP G A uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap... view
MLL3 p.V692fs 7 151945444 151945445 RL_HAEMATOPOIET... 37 Frame_Shift_Del Del AC - uc003wla.2 Hybrid_Cap...
MSN p.V188F X 64951710 64951710 RL_HAEMATOPOIET... 37 Missense_Mutation SNP G T uc004dwf.2 Hybrid_Cap... view
MYO18B p.E862K 22 26219534 26219534 RL_HAEMATOPOIET... 37 Missense_Mutation SNP G A uc003abz.1 MYO18B_uc003aca... Hybrid_Cap... view
MYT1 p.EE304del 20 62839417 62839422 RL_HAEMATOPOIET... 37 In_Frame_Del Del GAGGA... - uc002yii.2 MYT1_uc002yih.2... Hybrid_Cap...
N4BP2 p.D687G 4 40121791 40121791 RL_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc003guy.3 N4BP2_uc010ifq.... Hybrid_Cap... view
NCAM1 11 112832299 112832299 RL_HAEMATOPOIET... 37 5'UTR SNP C T uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 RL_HAEMATOPOIET... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 RL_HAEMATOPOIET... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 20 46282339 46282340 RL_HAEMATOPOIET... 37 3'UTR Ins - AT uc002xtk.2 NCOA3_uc002xtl.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 RL_HAEMATOPOIET... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NEK5 13 52639305 52639305 RL_HAEMATOPOIET... 37 3'UTR SNP A G uc001vge.2 Hybrid_Cap... view
NPR1 1 153665919 153665920 RL_HAEMATOPOIET... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 RL_HAEMATOPOIET... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUAK1 p.S312G 12 106461632 106461632 RL_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc001tlj.1 Hybrid_Cap... view
OBSCN p.E5617V 1 228525694 228525694 RL_HAEMATOPOIET... 37 Missense_Mutation SNP A T uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
PARP9 3 122247145 122247145 RL_HAEMATOPOIET... 37 3'UTR SNP C T uc010hri.2 PARP9_uc003eff.... Hybrid_Cap... view
PAX3 2 223158653 223158653 RL_HAEMATOPOIET... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PCM1 8 17813218 17813218 RL_HAEMATOPOIET... 37 Intron Del T - uc003wyi.3 PCM1_uc011kyh.1... Hybrid_Cap...
PDGFRA 4 55131002 55131002 RL_HAEMATOPOIET... 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PEX5L p.E92V 3 179605496 179605496 RL_HAEMATOPOIET... 37 Missense_Mutation SNP T A uc003fki.1 PEX5L_uc011bqd.... Hybrid_Cap... view
PGR 11 100933598 100933599 RL_HAEMATOPOIET... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PHIP p.P942A 6 79688374 79688374 RL_HAEMATOPOIET... 37 Missense_Mutation SNP G C uc003pir.2 PHIP_uc003piq.2... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 RL_HAEMATOPOIET... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PRKAA2 p.M542T 1 57173352 57173352 RL_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc001cyk.3 Hybrid_Cap... view
PRKCB p.R624Q 16 24225986 24225986 RL_HAEMATOPOIET... 37 Missense_Mutation SNP G A uc002dme.2 PRKCB_uc002dmd.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 RL_HAEMATOPOIET... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTEN p.N276S 10 89720676 89720676 RL_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc001kfb.2 Hybrid_Cap... view
PTEN p.T277A 10 89720678 89720678 RL_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc001kfb.2 Hybrid_Cap... view
PTPRD 9 8733932 8733932 RL_HAEMATOPOIET... 37 5'UTR SNP G C uc003zkk.2 PTPRD_uc003zkp.... Hybrid_Cap... view
RAPGEF2 4 160189201 160189201 RL_HAEMATOPOIET... 37 5'UTR Del T - uc003iqg.3 Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 RL_HAEMATOPOIET... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RHPN2 p.I436T 19 33487045 33487045 RL_HAEMATOPOIET... 37 Missense_Mutation SNP A G uc002nuf.2 RHPN2_uc010xro.... Hybrid_Cap... view
RPL22 p.K15fs 1 6257785 6257785 RL_HAEMATOPOIET... 37 Frame_Shift_Del Del T - uc001amd.2 RPL22_uc001ame.... Hybrid_Cap...
RPN1 p.Y341D 3 128348809 128348809 RL_HAEMATOPOIET... 37 Missense_Mutation SNP A C uc003ekr.1 RPN1_uc011bkq.1... Hybrid_Cap... view
RYK p.R358I 3 133907711 133907711 RL_HAEMATOPOIET... 37 Missense_Mutation SNP C A uc003eqc.1 RYK_uc003eqd.1_... Hybrid_Cap... view
SACS p.D4256G 13 23905248 23905248 RL_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc001uon.2 SACS_uc001uoo.2... Hybrid_Cap... view
SRPK3 p.V482A X 153049848 153049848 RL_HAEMATOPOIET... 37 Missense_Mutation SNP T C uc004fik.2 SRPK3_uc010nul.... Hybrid_Cap... view
STK31 7 23872024 23872025 RL_HAEMATOPOIET... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TEC 4 48139307 48139310 RL_HAEMATOPOIET... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TGFBR2 3 30733177 30733177 RL_HAEMATOPOIET... 37 3'UTR SNP A G uc003cen.2 TGFBR2_uc003ceo... Hybrid_Cap... view
TGS1 8 56737320 56737320 RL_HAEMATOPOIET... 37 3'UTR SNP A G uc003xsj.3 TGS1_uc010lyh.2... Hybrid_Cap... view
TLK1 2 171850178 171850179 RL_HAEMATOPOIET... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 RL_HAEMATOPOIET... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNRC6B 22 40573953 40573953 RL_HAEMATOPOIET... 37 5'UTR SNP C T uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap... view
TP53 p.A138P 17 7578518 7578518 RL_HAEMATOPOIET... 37 Missense_Mutation SNP C G rs28934875 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 RL_HAEMATOPOIET... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIM33 1 114940215 114940216 RL_HAEMATOPOIET... 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRRAP p.D930N 7 98519541 98519541 RL_HAEMATOPOIET... 37 Missense_Mutation SNP G A uc003upp.2 TRRAP_uc011kis.... Hybrid_Cap... view
TTN 2 179391639 179391640 RL_HAEMATOPOIET... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TXK p.L90R 4 48114435 48114435 RL_HAEMATOPOIET... 37 Missense_Mutation SNP A C uc003gxx.3 TXK_uc003gxy.1_... Hybrid_Cap... view
UNC13C 15 54919410 54919410 RL_HAEMATOPOIET... 37 3'UTR SNP G T uc002ack.2 UNC13C_uc002acm... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 RL_HAEMATOPOIET... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WNK1 p.G1012V 12 990089 990089 RL_HAEMATOPOIET... 37 Missense_Mutation SNP G T uc001qio.3 WNK1_uc001qip.3... Hybrid_Cap... view