Annotation Summary for Cell Line: RD  

Cell line primary name: RD
Cell line aliases:
Gender: F
Site Primary: soft_tissue
Histology: rhabdomyosarcoma
Hist Subtype1: embryonal
Notes:
Source: ATCC
Expression arrays: SILOS_p_NCLE_RNA9_HG-U133_Plus_2_B06_523544
SNP arrays: AWASH_p_NCLE_DNAAffy10_GenomeWideSNP_6_D11_542974
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in RD

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ACACA 17 35766564 35766564 RD_SOFT_TISSUE 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAM28 8 24211994 24211997 RD_SOFT_TISSUE 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 RD_SOFT_TISSUE 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
AKAP9 p.K1894E 7 91690652 91690652 RD_SOFT_TISSUE 37 Missense_Mutation SNP A G uc003ulg.2 AKAP9_uc003ulf.... Hybrid_Cap... view
ALPK1 4 113347609 113347610 RD_SOFT_TISSUE 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.1388_1389FF>F 18 56203253 56203255 RD_SOFT_TISSUE 37 In_Frame_Del Del AAG - uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ATM p.D273N 11 108115669 108115669 RD_SOFT_TISSUE 37 Missense_Mutation SNP G A uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap... view
BRD2 6 32948599 32948599 RD_SOFT_TISSUE 37 3'UTR Del C - uc010juh.2 BRD2_uc003ocn.3... Hybrid_Cap...
CARD10 p.KE272del 22 37906309 37906314 RD_SOFT_TISSUE 37 In_Frame_Del Del CTCCT... - uc003asx.1 CARD10_uc003ast... Hybrid_Cap...
CDK11B 1 1654066 1654068 RD_SOFT_TISSUE 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CHD1 p.P1684del 5 98192165 98192167 RD_SOFT_TISSUE 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHL1 p.E145K 3 382524 382524 RD_SOFT_TISSUE 37 Missense_Mutation SNP G A uc003bot.2 CHL1_uc003bou.2... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 RD_SOFT_TISSUE 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 RD_SOFT_TISSUE 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
DDR2 1 162750211 162750212 RD_SOFT_TISSUE 37 3'UTR Del TT - uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap...
DIP2C p.Q1493K 10 323459 323459 RD_SOFT_TISSUE 37 Missense_Mutation SNP G T uc001ifp.2 Hybrid_Cap... view
EP300 22 41574970 41574972 RD_SOFT_TISSUE 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
ERLIN2 8 37602269 37602269 RD_SOFT_TISSUE 37 Intron SNP C T uc003xke.3 ERLIN2_uc003xkc... Hybrid_Cap... view
ETV4 p.Q239R 17 41610137 41610137 RD_SOFT_TISSUE 37 Missense_Mutation SNP T C uc002idw.2 ETV4_uc002idv.2... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 RD_SOFT_TISSUE 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLT4 5 180035183 180035185 RD_SOFT_TISSUE 37 Intron Del AGT - uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap...
FOXP1 p.A571T 3 71019898 71019898 RD_SOFT_TISSUE 37 Missense_Mutation SNP C T uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap... view
GLYAT p.T244M 11 58477399 58477399 RD_SOFT_TISSUE 37 Missense_Mutation SNP G A uc001nnb.2 Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 RD_SOFT_TISSUE 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 RD_SOFT_TISSUE 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 RD_SOFT_TISSUE 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HNF1A 12 121434630 121434631 RD_SOFT_TISSUE 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 RD_SOFT_TISSUE 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INSR 19 7116965 7116965 RD_SOFT_TISSUE 37 3'UTR SNP G T uc002mgd.1 INSR_uc002mge.1... Hybrid_Cap... view
ISG15 p.F149S 1 949806 949806 RD_SOFT_TISSUE 37 Missense_Mutation SNP T C uc001acj.3 Hybrid_Cap... view
KIAA2022 p.S1148I X 73960949 73960949 RD_SOFT_TISSUE 37 Missense_Mutation SNP C A uc004eby.2 Hybrid_Cap... view
KLK7 19 51480672 51480675 RD_SOFT_TISSUE 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KSR1 p.F351C 17 25924457 25924457 RD_SOFT_TISSUE 37 Missense_Mutation SNP T G uc010crg.2 KSR1_uc002gzj.1... Hybrid_Cap... view
LDLR p.D589Y 19 11227594 11227594 RD_SOFT_TISSUE 37 Missense_Mutation SNP G T uc002mqk.3 LDLR_uc010xlk.1... Hybrid_Cap... view
LRP2 p.E59* 2 170177299 170177299 RD_SOFT_TISSUE 37 Nonsense_Mutation SNP C A uc002ues.2 LRP2_uc010zdf.1... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 RD_SOFT_TISSUE 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 RD_SOFT_TISSUE 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 RD_SOFT_TISSUE 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 RD_SOFT_TISSUE 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MASTL 10 27475535 27475535 RD_SOFT_TISSUE 37 3'UTR SNP A T uc001itm.2 MASTL_uc001itl.... Hybrid_Cap... view
MLH1 p.S193S 3 37053344 37053344 RD_SOFT_TISSUE 37 Silent SNP A G uc003cgl.2 MLH1_uc011aye.1... Hybrid_Cap... view
MLLT6 17 36881873 36881873 RD_SOFT_TISSUE 37 3'UTR Del C - uc002hqi.3 MLLT6_uc002hqk.... Hybrid_Cap...
MUSK p.P765S 9 113562951 113562951 RD_SOFT_TISSUE 37 Missense_Mutation SNP C T uc004bey.2 MUSK_uc004bez.1... Hybrid_Cap... view
MYO18B p.V618V 22 26168462 26168462 RD_SOFT_TISSUE 37 Silent SNP G A uc003abz.1 MYO18B_uc003aca... Hybrid_Cap... view
MYT1 p.A571S 20 62848499 62848499 RD_SOFT_TISSUE 37 Missense_Mutation SNP G T uc002yii.2 MYT1_uc002yih.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 RD_SOFT_TISSUE 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 RD_SOFT_TISSUE 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAPD3 p.L1227V 11 134031681 134031681 RD_SOFT_TISSUE 37 Missense_Mutation SNP G C uc001qhd.1 NCAPD3_uc010scm... Hybrid_Cap... view
NCOA3 20 46282339 46282340 RD_SOFT_TISSUE 37 3'UTR Ins - AT uc002xtk.2 NCOA3_uc002xtl.... Hybrid_Cap...
NEK1 p.A320S 4 170498141 170498141 RD_SOFT_TISSUE 37 Missense_Mutation SNP C A uc003isd.1 NEK1_uc003isb.1... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 RD_SOFT_TISSUE 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NF1 p.E977* 17 29556931 29556931 RD_SOFT_TISSUE 37 Nonsense_Mutation SNP G T uc002hgg.2 NF1_uc002hgh.2_... Hybrid_Cap... view
NFIA 1 61921185 61921186 RD_SOFT_TISSUE 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NPR1 1 153665919 153665920 RD_SOFT_TISSUE 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 RD_SOFT_TISSUE 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NRAS p.Q61H 1 115256528 115256528 RD_SOFT_TISSUE 37 Missense_Mutation SNP T A uc009wgu.2 Hybrid_Cap... view
NUP210 p.A1527fs 3 13367359 13367360 RD_SOFT_TISSUE 37 Frame_Shift_Ins Ins - C uc003bxv.1 Hybrid_Cap...
OBSCN p.G2058V 1 228463680 228463680 RD_SOFT_TISSUE 37 Missense_Mutation SNP G T uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
PAX3 2 223158653 223158653 RD_SOFT_TISSUE 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 RD_SOFT_TISSUE 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PHKG1 p.M252T 7 56149719 56149719 RD_SOFT_TISSUE 37 Missense_Mutation SNP A G uc011kdb.1 PSPH_uc003trj.2... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 RD_SOFT_TISSUE 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PKHD1 p.S2973C 6 51618031 51618031 RD_SOFT_TISSUE 37 Missense_Mutation SNP G C uc003pah.1 PKHD1_uc010jzn.... Hybrid_Cap... view
PLCG2 16 81954996 81954997 RD_SOFT_TISSUE 37 Intron Ins - T uc002fgt.2 PLCG2_uc010chg.... Hybrid_Cap...
PRKCG 19 54396712 54396712 RD_SOFT_TISSUE 37 Intron SNP C A uc010yeg.1 PRKCG_uc010eqz.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 RD_SOFT_TISSUE 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTK2B p.D424Y 8 27293794 27293794 RD_SOFT_TISSUE 37 Missense_Mutation SNP G T uc003xfn.1 PTK2B_uc003xfo.... Hybrid_Cap... view
RASGRF1 15 79277150 79277151 RD_SOFT_TISSUE 37 Intron Ins - C rs67045840;rs77640668 uc002beq.2 RASGRF1_uc002be... Hybrid_Cap...
RCBTB2 p.C421Y 13 49073894 49073894 RD_SOFT_TISSUE 37 Missense_Mutation SNP C T uc010tgg.1 RCBTB2_uc001vch... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 RD_SOFT_TISSUE 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RIPK4 p.D436N 21 43162047 43162047 RD_SOFT_TISSUE 37 Missense_Mutation SNP C T uc002yzn.1 Hybrid_Cap... view
RUNX2 p.AAAAAA79del 6 45390487 45390504 RD_SOFT_TISSUE 37 In_Frame_Del Del GGCGG... - uc011dvx.1 RUNX2_uc011dvy.... Hybrid_Cap...
SRF 6 43147138 43147138 RD_SOFT_TISSUE 37 3'UTR SNP G A uc003oui.2 SRF_uc011dvf.1_... Hybrid_Cap... view
STAT5B 17 40370087 40370087 RD_SOFT_TISSUE 37 Intron SNP G A uc002hzh.2 STAT5B_uc002hzi... Hybrid_Cap... view
STK25 2 242435659 242435662 RD_SOFT_TISSUE 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 RD_SOFT_TISSUE 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TCF21 p.R101K 6 134210837 134210837 RD_SOFT_TISSUE 37 Missense_Mutation SNP G A uc003qei.3 TCF21_uc003qej.... Hybrid_Cap... view
TLK1 2 171850178 171850179 RD_SOFT_TISSUE 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269461 102269461 RD_SOFT_TISSUE 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TOPBP1 p.A160G 3 133375586 133375586 RD_SOFT_TISSUE 37 Missense_Mutation SNP G C uc003eps.2 Hybrid_Cap... view
TP53 p.R248W 17 7577539 7577539 RD_SOFT_TISSUE 37 Missense_Mutation SNP G A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TTN 2 179391639 179391640 RD_SOFT_TISSUE 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 RD_SOFT_TISSUE 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
YSK4 p.K270M 2 135745633 135745633 RD_SOFT_TISSUE 37 Missense_Mutation SNP T A uc002tue.1 YSK4_uc002tuf.1... Hybrid_Cap... view
ZNF423 p.I536V 16 49671457 49671457 RD_SOFT_TISSUE 37 Missense_Mutation SNP T C uc002efs.2 ZNF423_uc010vgn... Hybrid_Cap... view