Annotation Summary for Cell Line: RCM-1  

Cell line primary name: RCM-1
Cell line aliases:
Gender:
Site Primary: large_intestine
Histology: carcinoma
Hist Subtype1: adenocarcinoma
Notes:
Source: HSRRB
Expression arrays: MAKER_p_NCLE_RNA7_HG-U133_Plus_2_F02_454688
SNP arrays: BOWER_p_NCLE_DNAAffy8_GenomeWideSNP_6_C04_464574
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in RCM-1

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ABCA3 p.L654V 16 2347859 2347859 RCM1_LARGE_INTE... 37 Missense_Mutation SNP G C uc002cpy.1 ABCA3_uc010bsk.... Hybrid_Cap... view
ACVR1C p.N54S 2 158443842 158443842 RCM1_LARGE_INTE... 37 Missense_Mutation SNP T C uc002tzk.3 ACVR1C_uc002tzl... Hybrid_Cap... view
ADAM28 8 24211994 24211997 RCM1_LARGE_INTE... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 RCM1_LARGE_INTE... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP6 p.H954Y 14 33147646 33147646 RCM1_LARGE_INTE... 37 Missense_Mutation SNP C T uc001wrq.2 AKAP6_uc010aml.... Hybrid_Cap... view
ALPK2 p.EDTST1006del 18 56204388 56204402 RCM1_LARGE_INTE... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ALS2 2 202587706 202587707 RCM1_LARGE_INTE... 37 Intron Ins - A rs3219165 uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap...
ANAPC5 p.P637L 12 121747650 121747650 RCM1_LARGE_INTE... 37 Missense_Mutation SNP G A uc001uag.2 ANAPC5_uc010szu... Hybrid_Cap... view
APC p.R216* 5 112128143 112128143 RCM1_LARGE_INTE... 37 Nonsense_Mutation SNP C T rs62619935 uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
AR p.G334R X 66765988 66765988 RCM1_LARGE_INTE... 37 Missense_Mutation SNP G A uc004dwu.1 AR_uc011mpd.1_M... Hybrid_Cap... view
ARHGEF12 11 120355811 120355811 RCM1_LARGE_INTE... 37 3'UTR SNP C T uc001pxl.1 ARHGEF12_uc009z... Hybrid_Cap... view
BGLAP p.A141E 1 156212567 156212567 RCM1_LARGE_INTE... 37 Missense_Mutation SNP C A uc001fns.1 BGLAP_uc001fnt.... Hybrid_Cap... view
BOK p.A131T 2 242509581 242509581 RCM1_LARGE_INTE... 37 Missense_Mutation SNP G A uc002wbq.2 BOK_uc002wbr.2_... Hybrid_Cap... view
BRD4 p.R616W 19 15366309 15366309 RCM1_LARGE_INTE... 37 Missense_Mutation SNP G A uc002nar.2 BRD4_uc002nas.2... Hybrid_Cap... view
BUB1B p.E476* 15 40492469 40492469 RCM1_LARGE_INTE... 37 Nonsense_Mutation SNP G T uc001zkx.3 BUB1B_uc010ucl.... Hybrid_Cap... view
C15ORF2 p.A776S 15 24923340 24923340 RCM1_LARGE_INTE... 37 Missense_Mutation SNP G T uc001ywo.2 Hybrid_Cap... view
C9ORF96 p.M335V 9 136263104 136263104 RCM1_LARGE_INTE... 37 Missense_Mutation SNP A G uc004cdk.2 C9orf96_uc004cd... Hybrid_Cap... view
CACNB2 10 18828721 18828722 RCM1_LARGE_INTE... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAMK2A 5 149602223 149602224 RCM1_LARGE_INTE... 37 3'UTR Del AC - uc003lrt.2 CAMK2A_uc003lrs... Hybrid_Cap...
CATSPERB p.T323N 14 92140530 92140530 RCM1_LARGE_INTE... 37 Missense_Mutation SNP G T uc001xzs.1 Hybrid_Cap... view
CHUK p.A244V 10 101978541 101978541 RCM1_LARGE_INTE... 37 Missense_Mutation SNP G A uc001kqp.2 Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 RCM1_LARGE_INTE... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 RCM1_LARGE_INTE... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CYLD 16 50820672 50820673 RCM1_LARGE_INTE... 37 Intron Ins - A rs117241863 uc002egp.1 CYLD_uc002ego.2... Hybrid_Cap...
DACH1 13 72014625 72014626 RCM1_LARGE_INTE... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DST p.R724C 6 56505162 56505162 RCM1_LARGE_INTE... 37 Missense_Mutation SNP G A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
EIF2AK3 2 88857223 88857223 RCM1_LARGE_INTE... 37 3'UTR SNP C G uc002stc.3 Hybrid_Cap... view
EIF4EBP1 p.R56Q 8 37914620 37914620 RCM1_LARGE_INTE... 37 Missense_Mutation SNP G A uc003xks.2 Hybrid_Cap... view
EP300 p.Q1740* 22 41572933 41572933 RCM1_LARGE_INTE... 37 Nonsense_Mutation SNP C T uc003azl.3 Hybrid_Cap... view
EPHA6 3 97367230 97367231 RCM1_LARGE_INTE... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHB1 p.Q459* 3 134873071 134873071 RCM1_LARGE_INTE... 37 Nonsense_Mutation SNP C T uc003eqt.2 EPHB1_uc003equ.... Hybrid_Cap... view
ETV1 7 14028708 14028708 RCM1_LARGE_INTE... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
ETV6 12 12043996 12043996 RCM1_LARGE_INTE... 37 3'UTR SNP A G uc001qzz.2 ETV6_uc001raa.1... Hybrid_Cap... view
FANCA p.H463Y 16 89851345 89851345 RCM1_LARGE_INTE... 37 Missense_Mutation SNP G A uc002fou.1 FANCA_uc010vpn.... Hybrid_Cap... view
FBXW7 p.R505C 4 153247289 153247289 RCM1_LARGE_INTE... 37 Missense_Mutation SNP G A uc003ims.2 FBXW7_uc011cii.... Hybrid_Cap... view
FGFR1OP p.K350Q 6 167447382 167447382 RCM1_LARGE_INTE... 37 Missense_Mutation SNP A C uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 RCM1_LARGE_INTE... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 RCM1_LARGE_INTE... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 RCM1_LARGE_INTE... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 RCM1_LARGE_INTE... 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FN1 2 216244182 216244185 RCM1_LARGE_INTE... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FN1 p.N172D 2 216296589 216296589 RCM1_LARGE_INTE... 37 Missense_Mutation SNP T C uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap... view
GLI3 p.N842D 7 42006147 42006147 RCM1_LARGE_INTE... 37 Missense_Mutation SNP T C uc011kbh.1 GLI3_uc011kbg.1... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 RCM1_LARGE_INTE... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 RCM1_LARGE_INTE... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 RCM1_LARGE_INTE... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 RCM1_LARGE_INTE... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 RCM1_LARGE_INTE... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 RCM1_LARGE_INTE... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
ILK 11 6630029 6630029 RCM1_LARGE_INTE... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGAV p.R573W 2 187521126 187521126 RCM1_LARGE_INTE... 37 Missense_Mutation SNP C T uc002upq.2 ITGAV_uc010frs.... Hybrid_Cap... view
ITGB1 10 33197131 33197134 RCM1_LARGE_INTE... 37 Intron Del CTTT - rs116966876 uc001iwq.3 ITGB1_uc001iwp.... Hybrid_Cap...
ITPR1 p.A2154V 3 4825594 4825594 RCM1_LARGE_INTE... 37 Missense_Mutation SNP C T uc003bqa.2 ITPR1_uc010hca.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 RCM1_LARGE_INTE... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KIAA2022 p.S76N X 73964165 73964165 RCM1_LARGE_INTE... 37 Missense_Mutation SNP C T uc004eby.2 Hybrid_Cap... view
KRAS p.G12V 12 25398284 25398284 RCM1_LARGE_INTE... 37 Missense_Mutation SNP C A uc001rgp.1 KRAS_uc001rgq.1... Hybrid_Cap... view
LMNB1 5 126172033 126172033 RCM1_LARGE_INTE... 37 3'UTR SNP C T uc003kud.1 LMNB1_uc010jdb.... Hybrid_Cap... view
LRP6 p.A43T 12 12397518 12397518 RCM1_LARGE_INTE... 37 Missense_Mutation SNP C T uc001rah.3 LRP6_uc010shl.1... Hybrid_Cap... view
LRRC7 p.E336* 1 70477595 70477595 RCM1_LARGE_INTE... 37 Nonsense_Mutation SNP G T uc001dep.2 LRRC7_uc009wbg.... Hybrid_Cap... view
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 RCM1_LARGE_INTE... 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 RCM1_LARGE_INTE... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAML3 p.I740T 4 140651670 140651670 RCM1_LARGE_INTE... 37 Missense_Mutation SNP A G uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap... view
MAP2K1 15 66679649 66679650 RCM1_LARGE_INTE... 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 RCM1_LARGE_INTE... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 RCM1_LARGE_INTE... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K4 p.A1199del 6 161519351 161519353 RCM1_LARGE_INTE... 37 In_Frame_Del Del CTG - uc003qtn.2 MAP3K4_uc010kkc... Hybrid_Cap...
MAPKBP1 p.G839R 15 42113045 42113045 RCM1_LARGE_INTE... 37 Missense_Mutation SNP G A uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap... view
MCL1 1 150549737 150549744 RCM1_LARGE_INTE... 37 3'UTR Del GCTAG... - rs116997851 uc001euz.2 MCL1_uc010pch.1... Hybrid_Cap...
MITF 3 70014449 70014449 RCM1_LARGE_INTE... 37 3'UTR SNP G A uc003dnz.2 MITF_uc011bgb.1... Hybrid_Cap... view
MRE11A p.R488H 11 94192611 94192611 RCM1_LARGE_INTE... 37 Missense_Mutation SNP C T uc001peu.2 MRE11A_uc001pev... Hybrid_Cap... view
MSH3 p.63_64insAAP 5 79950724 79950725 RCM1_LARGE_INTE... 37 In_Frame_Ins Ins - CCGCAGCGC rs72432994 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MSH5 6 31725871 31725871 RCM1_LARGE_INTE... 37 Intron SNP G C uc003nwt.1 MSH5_uc003nwu.1... Hybrid_Cap... view
MYST4 p.EEE1366del 10 76788660 76788668 RCM1_LARGE_INTE... 37 In_Frame_Del Del GAAGA... - uc001jwn.1 MYST4_uc001jwo.... Hybrid_Cap...
NAV3 p.V1702_splice 12 78570218 78570218 RCM1_LARGE_INTE... 37 Splice_Site_SNP SNP G A uc001syp.2 NAV3_uc001syo.2... Hybrid_Cap... view
NCAM1 11 112832276 112832277 RCM1_LARGE_INTE... 37 5'UTR Ins - G uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832307 112832308 RCM1_LARGE_INTE... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 RCM1_LARGE_INTE... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NFIA 1 61921185 61921186 RCM1_LARGE_INTE... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NPM1 5 170837734 170837734 RCM1_LARGE_INTE... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 RCM1_LARGE_INTE... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPRL2 3 50384978 50384978 RCM1_LARGE_INTE... 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 RCM1_LARGE_INTE... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NSD1 p.V2618I 5 176722221 176722221 RCM1_LARGE_INTE... 37 Missense_Mutation SNP G A uc003mfr.3 NSD1_uc003mft.3... Hybrid_Cap... view
NUAK1 12 106460441 106460441 RCM1_LARGE_INTE... 37 3'UTR SNP C T uc001tlj.1 Hybrid_Cap... view
PAX3 2 223066017 223066018 RCM1_LARGE_INTE... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 RCM1_LARGE_INTE... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PGGT1B 5 114548071 114548072 RCM1_LARGE_INTE... 37 3'UTR Ins - C uc003kqw.3 PGGT1B_uc003kqx... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 RCM1_LARGE_INTE... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PREX2 8 69143713 69143714 RCM1_LARGE_INTE... 37 3'UTR Del TT - uc003xxv.1 Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 RCM1_LARGE_INTE... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTCH2 p.R673L 1 45293555 45293555 RCM1_LARGE_INTE... 37 Missense_Mutation SNP C A uc010olf.1 PTCH2_uc010olg.... Hybrid_Cap... view
RAPGEF2 4 160189224 160189224 RCM1_LARGE_INTE... 37 5'UTR SNP A T uc003iqg.3 Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 RCM1_LARGE_INTE... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RPS6KA5 14 91360733 91360734 RCM1_LARGE_INTE... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 RCM1_LARGE_INTE... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
RPTOR 17 78519274 78519275 RCM1_LARGE_INTE... 37 5'UTR Del TT - uc002jyt.1 RPTOR_uc002jys.... Hybrid_Cap...
SACS p.Q3370K 13 23907907 23907907 RCM1_LARGE_INTE... 37 Missense_Mutation SNP G T uc001uon.2 SACS_uc001uoo.2... Hybrid_Cap... view
SLC45A3 1 205633796 205633796 RCM1_LARGE_INTE... 37 5'UTR SNP C T uc001hda.1 SLC45A3_uc010pr... Hybrid_Cap... view
SMAD4 p.R361H 18 48591919 48591919 RCM1_LARGE_INTE... 37 Missense_Mutation SNP G A uc010xdp.1 SMAD4_uc002lfb.... Hybrid_Cap... view
SNX19 p.A763V 11 130776003 130776003 RCM1_LARGE_INTE... 37 Missense_Mutation SNP G A uc001qgk.3 SNX19_uc009zcw.... Hybrid_Cap... view
SRPK1 6 35803052 35803052 RCM1_LARGE_INTE... 37 3'UTR SNP T A uc003olj.2 SRPK1_uc011dtg.... Hybrid_Cap... view
STK31 7 23872024 23872025 RCM1_LARGE_INTE... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TEC 4 48139307 48139310 RCM1_LARGE_INTE... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TGFB2 1 218614764 218614764 RCM1_LARGE_INTE... 37 3'UTR SNP G A uc001hln.2 TGFB2_uc001hlm.... Hybrid_Cap... view
TIAM1 p.S398N 21 32624276 32624276 RCM1_LARGE_INTE... 37 Missense_Mutation SNP C T uc002yow.1 TIAM1_uc011adk.... Hybrid_Cap... view
TLK1 2 171850178 171850179 RCM1_LARGE_INTE... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 RCM1_LARGE_INTE... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNFSF10 3 172224172 172224172 RCM1_LARGE_INTE... 37 3'UTR SNP C T uc003fid.2 TNFSF10_uc003fi... Hybrid_Cap... view
TP53 p.R306* 17 7577022 7577022 RCM1_LARGE_INTE... 37 Nonsense_Mutation SNP G A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 RCM1_LARGE_INTE... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIO p.T1057M 5 14369586 14369586 RCM1_LARGE_INTE... 37 Missense_Mutation SNP C T uc003jff.2 TRIO_uc003jfg.2... Hybrid_Cap... view
TRPS1 8 116635872 116635873 RCM1_LARGE_INTE... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTK p.G855fs 6 80751910 80751910 RCM1_LARGE_INTE... 37 Frame_Shift_Del Del A - uc003pjc.2 TTK_uc003pjb.3_... Hybrid_Cap...
TTN 2 179391639 179391640 RCM1_LARGE_INTE... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.A25046G 2 179428018 179428018 RCM1_LARGE_INTE... 37 Missense_Mutation SNP G C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
URB2 p.Q569E 1 229772065 229772065 RCM1_LARGE_INTE... 37 Missense_Mutation SNP C G uc001hts.1 URB2_uc009xfd.1... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 RCM1_LARGE_INTE... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WNK4 p.A430A 17 40937314 40937314 RCM1_LARGE_INTE... 37 Silent SNP C T uc002ibj.2 WNK4_uc010wgx.1... Hybrid_Cap... view