Annotation Summary for Cell Line: RMG-I  

Cell line primary name: RMG-I
Cell line aliases: RMG-1
Gender: F
Site Primary: ovary
Histology: carcinoma
Hist Subtype1: clear_cell_carcinoma
Notes:
Source: HSRRB
Expression arrays: PARES_p_NCLE_RNA_Redo_HG-U133_Plus_2_B10_257640
SNP arrays: LIMPS_p_NCLE_DNA2N_GenomeWideSNP_6_F10_246748
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in RMG-I

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 RMGI_OVARY 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAMTSL3 p.R1139Q 15 84651796 84651796 RMGI_OVARY 37 Missense_Mutation SNP G A uc002bjz.3 ADAMTSL3_uc010b... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 RMGI_OVARY 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK1 4 113347609 113347610 RMGI_OVARY 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 RMGI_OVARY 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ASPH p.R369C 8 62489375 62489375 RMGI_OVARY 37 Missense_Mutation SNP G A uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap... view
ATIC p.Y494H 2 216211641 216211641 RMGI_OVARY 37 Missense_Mutation SNP T C uc002vex.3 ATIC_uc010zjo.1... Hybrid_Cap... view
AURKC 19 57742494 57742507 RMGI_OVARY 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BCL10 p.T162M 1 85733527 85733527 RMGI_OVARY 37 Missense_Mutation SNP G A uc001dkz.2 Hybrid_Cap... view
CCNT1 p.A263S 12 49088210 49088210 RMGI_OVARY 37 Missense_Mutation SNP C A uc001rse.1 LOC144438_uc001... Hybrid_Cap... view
CDK18 p.R289H 1 205496968 205496968 RMGI_OVARY 37 Missense_Mutation SNP G A uc001hcr.2 CDK18_uc001hcp.... Hybrid_Cap... view
CHRNA5 15 78885615 78885616 RMGI_OVARY 37 3'UTR Ins - TA rs72534078 uc002bdy.2 CHRNA3_uc002bea... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 RMGI_OVARY 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CSPP1 p.P549L 8 68030542 68030542 RMGI_OVARY 37 Missense_Mutation SNP C T uc003xxi.2 CSPP1_uc003xxg.... Hybrid_Cap... view
CXCL12 10 44873992 44873993 RMGI_OVARY 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DMPK p.V206G 19 46281793 46281793 RMGI_OVARY 37 Missense_Mutation SNP A C uc002pdi.1 DMPK_uc010xxs.1... Hybrid_Cap... view
EP300 22 41574970 41574972 RMGI_OVARY 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
ETV1 7 14028708 14028708 RMGI_OVARY 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FBN2 p.R1742Q 5 127645067 127645067 RMGI_OVARY 37 Missense_Mutation SNP C T uc003kuu.2 Hybrid_Cap... view
FGFR3 4 1809128 1809131 RMGI_OVARY 37 3'UTR Del GTGT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
GNAS 20 57478508 57478508 RMGI_OVARY 37 Intron SNP C T uc002xzw.2 GNAS_uc002xzt.2... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 RMGI_OVARY 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KDR p.G99A 4 55984833 55984833 RMGI_OVARY 37 Missense_Mutation SNP C G uc003has.2 KDR_uc003hat.1_... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 RMGI_OVARY 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 RMGI_OVARY 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 RMGI_OVARY 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K4 p.D531Y 6 161470895 161470895 RMGI_OVARY 37 Missense_Mutation SNP G T uc003qtn.2 MAP3K4_uc010kkc... Hybrid_Cap... view
MASTL p.S320N 10 27456178 27456178 RMGI_OVARY 37 Missense_Mutation SNP G A uc001itm.2 MASTL_uc001itl.... Hybrid_Cap... view
MECOM 3 169381200 169381201 RMGI_OVARY 37 5'UTR Ins - T uc011bpj.1 MECOM_uc011bpk.... Hybrid_Cap...
MLL3 p.A221D 7 152008960 152008960 RMGI_OVARY 37 Missense_Mutation SNP G T uc003wla.2 Hybrid_Cap... view
MYO3B p.A94V 2 171056754 171056754 RMGI_OVARY 37 Missense_Mutation SNP C T uc002ufy.2 MYO3B_uc002ufv.... Hybrid_Cap... view
NCAM1 11 112832340 112832340 RMGI_OVARY 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCKIPSD p.R391H 3 48717583 48717583 RMGI_OVARY 37 Missense_Mutation SNP C T uc003cun.2 NCKIPSD_uc003cu... Hybrid_Cap... view
NPR1 1 153665919 153665920 RMGI_OVARY 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPRL2 3 50384978 50384978 RMGI_OVARY 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 RMGI_OVARY 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAX3 2 223066017 223066018 RMGI_OVARY 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PBK p.A201D 8 27668678 27668678 RMGI_OVARY 37 Missense_Mutation SNP G T uc011lap.1 ESCO2_uc010luy.... Hybrid_Cap... view
PCNA 20 5099361 5099361 RMGI_OVARY 37 Intron SNP C T uc002wlp.2 PCNA_uc002wlq.2... Hybrid_Cap... view
PDE4DIP p.L601fs 1 144915624 144915624 RMGI_OVARY 37 Frame_Shift_Del Del G - rs1778112 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.E243fs 1 144923729 144923729 RMGI_OVARY 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 RMGI_OVARY 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PML 15 74327776 74327776 RMGI_OVARY 37 Intron SNP G A uc002awv.2 PML_uc002awm.2_... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 RMGI_OVARY 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PSEN1 p.E123K 14 73640302 73640302 RMGI_OVARY 37 Missense_Mutation SNP G A rs63750378 uc001xnr.2 PSEN1_uc001xnv.... Hybrid_Cap... view
ROBO2 3 77666937 77666937 RMGI_OVARY 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 RMGI_OVARY 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
RRM2 p.M332T 2 10269259 10269259 RMGI_OVARY 37 Missense_Mutation SNP T C uc002rah.2 Hybrid_Cap... view
SCD5 4 83581986 83581986 RMGI_OVARY 37 Intron SNP C T uc003hna.2 SCD5_uc003hnb.3... Hybrid_Cap... view
SERPINB4 p.G44E 18 61310681 61310681 RMGI_OVARY 37 Missense_Mutation SNP C T uc002ljf.2 SERPINB4_uc002l... Hybrid_Cap... view
SIRT1 10 69676381 69676381 RMGI_OVARY 37 3'UTR Del C - uc001jnd.2 SIRT1_uc010qis.... Hybrid_Cap...
TAF1L p.R1454C 9 32631218 32631218 RMGI_OVARY 37 Missense_Mutation SNP G A uc003zrg.1 Hybrid_Cap... view
TLR3 4 187003379 187003385 RMGI_OVARY 37 Intron Del AAAAA... - rs71665989;rs36208995 uc003iyq.2 TLR3_uc011ckz.1... Hybrid_Cap...
TRIM33 1 114940211 114940212 RMGI_OVARY 37 3'UTR Ins - T rs66490349 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRPS1 8 116635872 116635873 RMGI_OVARY 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 RMGI_OVARY 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WDHD1 p.A70V 14 55477159 55477159 RMGI_OVARY 37 Missense_Mutation SNP G A uc001xbm.1 WDHD1_uc001xbn.... Hybrid_Cap... view
WNK2 p.E1735D 9 96054841 96054841 RMGI_OVARY 37 Missense_Mutation SNP A T uc004ati.1 WNK2_uc011lud.1... Hybrid_Cap... view
WNK3 p.N1323K X 54264820 54264820 RMGI_OVARY 37 Missense_Mutation SNP A T uc004dtc.1 WNK3_uc004dtd.1... Hybrid_Cap... view