Annotation Summary for Cell Line: MCAS  

Cell line primary name: MCAS
Cell line aliases:
Gender: F
Site Primary: ovary
Histology: carcinoma
Hist Subtype1: adenocarcinoma
Notes:
Source: HSRRB
Expression arrays: METIS_p_NCLE_RNA1_Human_U133_Plus_2.0_B02_240876
SNP arrays: LIMPS_p_NCLE_DNA2N_GenomeWideSNP_6_C08_246672
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in MCAS

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 MCAS_OVARY 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABL2 1 179086419 179086420 MCAS_OVARY 37 Intron Ins - A rs72207641 uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 MCAS_OVARY 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADCK1 14 78390632 78390637 MCAS_OVARY 37 Intron Del AAACT... - rs78274857;rs74969652 uc001xui.2 ADCK1_uc010tvo.... Hybrid_Cap...
ALPK1 4 113347609 113347610 MCAS_OVARY 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
APC p.L2345I 5 112178324 112178324 MCAS_OVARY 37 Missense_Mutation SNP C A uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
ASPH p.A264_splice 8 62550924 62550925 MCAS_OVARY 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
AURKC 19 57742494 57742507 MCAS_OVARY 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BAI3 p.K125R 6 69348941 69348941 MCAS_OVARY 37 Missense_Mutation SNP A G uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BCL11B 14 99640468 99640468 MCAS_OVARY 37 3'UTR SNP G T uc001yga.2 BCL11B_uc001ygb... Hybrid_Cap... view
BRD2 6 32948607 32948608 MCAS_OVARY 37 3'UTR Ins - T rs1049414;rs114195059 uc010juh.2 BRD2_uc003ocn.3... Hybrid_Cap...
BTRC p.L95S 10 103239174 103239174 MCAS_OVARY 37 Missense_Mutation SNP T C uc001kta.2 BTRC_uc001ksz.1... Hybrid_Cap... view
CDK18 1 205500768 205500768 MCAS_OVARY 37 3'UTR SNP G C uc001hcr.2 CDK18_uc001hcp.... Hybrid_Cap... view
CDKN1A 6 36653580 36653580 MCAS_OVARY 37 3'UTR SNP C T uc011dtq.1 CDKN1A_uc003omm... Hybrid_Cap... view
CDKN2A p.P135L 9 21971120 21971120 MCAS_OVARY 37 Missense_Mutation SNP G A uc003zpl.2 MTAP_uc003zpi.1... Hybrid_Cap... view
CHRNB4 p.T328N 15 78921664 78921664 MCAS_OVARY 37 Missense_Mutation SNP G T uc002bed.1 CHRNB4_uc002bee... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 MCAS_OVARY 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 p.K951R 22 19207461 19207461 MCAS_OVARY 37 Missense_Mutation SNP T C uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap... view
CNTN6 3 1339681 1339686 MCAS_OVARY 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 MCAS_OVARY 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CSF1R 5 149433400 149433401 MCAS_OVARY 37 3'UTR Ins - C rs66970099;rs78449650 uc003lrl.2 CSF1R_uc011dcd.... Hybrid_Cap...
CUBN p.I962M 10 17110185 17110185 MCAS_OVARY 37 Missense_Mutation SNP T C uc001ioo.2 Hybrid_Cap... view
CXCL12 10 44873992 44873993 MCAS_OVARY 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
CXCR4 p.E19* 2 136873455 136873455 MCAS_OVARY 37 Nonsense_Mutation SNP C A uc002tuy.2 CXCR4_uc010fnk.... Hybrid_Cap... view
CYP3A4 p.P218R 7 99365994 99365994 MCAS_OVARY 37 Missense_Mutation SNP G C rs55901263 uc003urv.1 CYP3A4_uc003urw... Hybrid_Cap... view
DACH1 13 72014625 72014626 MCAS_OVARY 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DDX10 p.788_789insDD 11 108788634 108788635 MCAS_OVARY 37 In_Frame_Ins Ins - TGATGA uc001pkm.2 DDX10_uc001pkl.... Hybrid_Cap...
EIF2B5 3 183862919 183862919 MCAS_OVARY 37 3'UTR SNP T G uc003fmp.2 EIF2B5_uc003fmq... Hybrid_Cap... view
EIF3A 10 120797649 120797649 MCAS_OVARY 37 Intron SNP G A uc001ldu.2 EIF3A_uc010qsu.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 MCAS_OVARY 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHA8 1 22915922 22915922 MCAS_OVARY 37 Intron SNP C T uc001bfx.1 EPHA8_uc001bfw.... Hybrid_Cap... view
FANCE 6 35434338 35434338 MCAS_OVARY 37 3'UTR Del C - rs79295372 uc003oko.1 FANCE_uc010jvw.... Hybrid_Cap...
FBN2 p.R654H 5 127712435 127712435 MCAS_OVARY 37 Missense_Mutation SNP C T uc003kuu.2 FBN2_uc003kuv.2... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 MCAS_OVARY 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 MCAS_OVARY 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 MCAS_OVARY 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 MCAS_OVARY 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GNAS p.R960C 20 57485115 57485115 MCAS_OVARY 37 Missense_Mutation SNP C T uc002xzw.2 GNAS_uc002xzt.2... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 MCAS_OVARY 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 MCAS_OVARY 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 MCAS_OVARY 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 MCAS_OVARY 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HIPK2 p.G1115S 7 139257927 139257927 MCAS_OVARY 37 Missense_Mutation SNP C T uc003vvf.3 HIPK2_uc003vvd.... Hybrid_Cap... view
HNF1A 12 121434630 121434631 MCAS_OVARY 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSF1 p.D460N 8 145537711 145537711 MCAS_OVARY 37 Missense_Mutation SNP G A uc003zbt.3 HSF1_uc003zbu.3... Hybrid_Cap... view
ILK 11 6630029 6630029 MCAS_OVARY 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 MCAS_OVARY 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JUN 1 59247584 59247584 MCAS_OVARY 37 3'UTR SNP A C uc001cze.2 Hybrid_Cap... view
KLF6 p.E246K 10 3822362 3822362 MCAS_OVARY 37 Missense_Mutation SNP C T uc001iha.2 KLF6_uc010qaj.1... Hybrid_Cap... view
KRAS p.G12D 12 25398284 25398284 MCAS_OVARY 37 Missense_Mutation SNP C T uc001rgp.1 KRAS_uc001rgq.1... Hybrid_Cap... view
LPP p.T198I 3 188327112 188327112 MCAS_OVARY 37 Missense_Mutation SNP C T uc003frs.1 LPP_uc011bsg.1_... Hybrid_Cap... view
LRP1B p.D2829N 2 141264401 141264401 MCAS_OVARY 37 Missense_Mutation SNP C T uc002tvj.1 Hybrid_Cap... view
LRRK1 p.C1165Y 15 101591970 101591970 MCAS_OVARY 37 Missense_Mutation SNP G A uc002bwr.2 LRRK1_uc010usb.... Hybrid_Cap... view
LRRK2 p.D1420V 12 40702977 40702977 MCAS_OVARY 37 Missense_Mutation SNP A T uc001rmg.3 LRRK2_uc009zjw.... Hybrid_Cap... view
MAF 16 79632480 79632480 MCAS_OVARY 37 Intron SNP T G uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap... view
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 MCAS_OVARY 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 MCAS_OVARY 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 15 66679649 66679650 MCAS_OVARY 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MAP2K6 17 67517037 67517037 MCAS_OVARY 37 Intron SNP A C uc002jij.2 MAP2K6_uc002jii... Hybrid_Cap... view
MAP3K1 p.K171Q 5 56152455 56152455 MCAS_OVARY 37 Missense_Mutation SNP A C uc003jqw.3 Hybrid_Cap... view
MAP3K13 p.R915H 3 185198262 185198262 MCAS_OVARY 37 Missense_Mutation SNP G A rs3732576 uc010hyf.2 MAP3K13_uc011br... Hybrid_Cap... view
MAP3K14 p.R218_splice 17 43364293 43364294 MCAS_OVARY 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K4 p.A1199del 6 161519351 161519353 MCAS_OVARY 37 In_Frame_Del Del CTG - uc003qtn.2 MAP3K4_uc010kkc... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 MCAS_OVARY 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MGA 15 42042923 42042923 MCAS_OVARY 37 Intron SNP C T uc010ucy.1 MGA_uc010ucz.1_... Hybrid_Cap... view
MLLT10 p.S530I 10 21962816 21962816 MCAS_OVARY 37 Missense_Mutation SNP G T uc001iqs.2 MLLT10_uc001iqt... Hybrid_Cap... view
MSH3 p.63_64insAAP 5 79950724 79950725 MCAS_OVARY 37 In_Frame_Ins Ins - CCGCAGCGC rs72432994 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MYLK p.E1066del 3 123419117 123419119 MCAS_OVARY 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
MYLK2 p.E350A 20 30414484 30414484 MCAS_OVARY 37 Missense_Mutation SNP A C uc002wwq.2 MYLK2_uc002wws.... Hybrid_Cap... view
MYST3 p.Q876* 8 41798773 41798773 MCAS_OVARY 37 Nonsense_Mutation SNP G A uc010lxb.2 MYST3_uc010lxc.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 MCAS_OVARY 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 MCAS_OVARY 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NGFR p.R407H 17 47590307 47590307 MCAS_OVARY 37 Missense_Mutation SNP G A uc002ioz.3 Hybrid_Cap... view
NPR1 1 153665919 153665920 MCAS_OVARY 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 MCAS_OVARY 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR2F1 5 92929678 92929678 MCAS_OVARY 37 3'UTR SNP C G uc003kkj.2 Hybrid_Cap... view
PAWR p.D255E 12 79990357 79990357 MCAS_OVARY 37 Missense_Mutation SNP A C uc001syx.2 Hybrid_Cap... view
PAX3 2 223066017 223066018 MCAS_OVARY 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 MCAS_OVARY 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.L601fs 1 144915624 144915624 MCAS_OVARY 37 Frame_Shift_Del Del G - rs1778112 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.E243fs 1 144923729 144923729 MCAS_OVARY 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP 1 144931417 144931417 MCAS_OVARY 37 Intron SNP G C uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDGFRA 4 55131002 55131002 MCAS_OVARY 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PDK4 7 95225789 95225790 MCAS_OVARY 37 5'UTR Ins - GG rs17166978 uc003uoa.2 Hybrid_Cap...
PIK3C2A 11 17111198 17111199 MCAS_OVARY 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 MCAS_OVARY 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3CA p.H1047R 3 178952085 178952085 MCAS_OVARY 37 Missense_Mutation SNP A G uc003fjk.2 Hybrid_Cap... view
PMS1 2 190670539 190670540 MCAS_OVARY 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PPP3CA p.A494T 4 101947108 101947108 MCAS_OVARY 37 Missense_Mutation SNP C T uc011cen.1 PPP3CA_uc003hvu... Hybrid_Cap... view
PREX2 p.T797N 8 69009273 69009273 MCAS_OVARY 37 Missense_Mutation SNP C A uc003xxv.1 PREX2_uc003xxu.... Hybrid_Cap... view
PRKCA 17 64298959 64298960 MCAS_OVARY 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKDC p.G2113del 8 48771415 48771417 MCAS_OVARY 37 In_Frame_Del Del CTC - uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 MCAS_OVARY 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PSKH1 p.M364V 16 67961360 67961360 MCAS_OVARY 37 Missense_Mutation SNP A G uc002euv.2 Hybrid_Cap... view
PTK7 p.P1078P 6 43128616 43128616 MCAS_OVARY 37 Silent SNP G A uc011dve.1 PTK7_uc003oub.1... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 MCAS_OVARY 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RPN1 3 128339057 128339057 MCAS_OVARY 37 3'UTR Del A - rs3182459 uc003ekr.1 RPN1_uc011bkq.1... Hybrid_Cap...
RPS6KA5 14 91360733 91360734 MCAS_OVARY 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KB1 17 58024224 58024225 MCAS_OVARY 37 3'UTR Ins - AA rs67846207 uc002ixy.2 RPS6KB1_uc010dd... Hybrid_Cap...
SLK p.E476Q 10 105762362 105762362 MCAS_OVARY 37 Missense_Mutation SNP G C uc001kxo.1 SLK_uc001kxp.1_... Hybrid_Cap... view
SMAD4 p.S504R 18 48604690 48604690 MCAS_OVARY 37 Missense_Mutation SNP T A uc010xdp.1 SMAD4_uc002lfb.... Hybrid_Cap... view
SSU72 1 1477324 1477325 MCAS_OVARY 37 3'UTR Del CA - rs72502747 uc001agd.2 C1orf70_uc009vk... Hybrid_Cap...
STAT1 2 191840353 191840353 MCAS_OVARY 37 Intron Del T - uc002usj.2 STAT1_uc010fse.... Hybrid_Cap...
STK31 7 23872024 23872025 MCAS_OVARY 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STK36 p.H1139Q 2 219563684 219563684 MCAS_OVARY 37 Missense_Mutation SNP C G uc002viu.2 STK36_uc002viv.... Hybrid_Cap... view
STK38L 12 27475453 27475453 MCAS_OVARY 37 3'UTR SNP G A uc001rhr.2 STK38L_uc001rhs... Hybrid_Cap... view
TCEA1 8 54934836 54934837 MCAS_OVARY 37 5'UTR Ins - GCG uc003xru.2 TCEA1_uc003xrv.... Hybrid_Cap...
TEC 4 48139307 48139310 MCAS_OVARY 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TG p.K1304T 8 133920494 133920494 MCAS_OVARY 37 Missense_Mutation SNP A C uc003ytw.2 TG_uc010mdw.2_M... Hybrid_Cap... view
TLK1 2 171850178 171850179 MCAS_OVARY 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TLN1 p.D1144G 9 35712962 35712962 MCAS_OVARY 37 Missense_Mutation SNP T C uc003zxt.2 Hybrid_Cap... view
TNK2 p.R445W 3 195605334 195605334 MCAS_OVARY 37 Missense_Mutation SNP G A uc003fvt.1 TNK2_uc003fvs.1... Hybrid_Cap... view
TP53BP1 p.T22S 15 43784609 43784609 MCAS_OVARY 37 Missense_Mutation SNP G C uc001zrr.3 TP53BP1_uc010ud... Hybrid_Cap... view
TTN 2 179391639 179391640 MCAS_OVARY 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 MCAS_OVARY 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
YSK4 p.L1127F 2 135738930 135738930 MCAS_OVARY 37 Missense_Mutation SNP C A uc002tue.1 YSK4_uc002tuf.1... Hybrid_Cap... view
YSK4 p.H784N 2 135744092 135744092 MCAS_OVARY 37 Missense_Mutation SNP G T uc002tue.1 YSK4_uc002tuf.1... Hybrid_Cap... view