Annotation Summary for Cell Line: C2BBe1  

Cell line primary name: C2BBe1
Cell line aliases:
Gender: M
Site Primary: large_intestine
Histology: carcinoma
Hist Subtype1: adenocarcinoma
Notes:
Source: ATCC
Expression arrays: CASED_p_NCLE_RNA4_HG-U133_Plus_2_H03_383618
SNP arrays: LOBBY_p_NCLE_DNAAffy6_GenomeWideSNP_6_C02_437322
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in C2BBe1

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 C2BBE1_LARGE_IN... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABCC3 p.N1181D 17 48755267 48755267 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP A G uc002isl.2 ABCC3_uc002isn.... Hybrid_Cap... view
ABCC4 p.R879Q 13 95735444 95735444 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP C T uc001vmd.3 ABCC4_uc010afk.... Hybrid_Cap... view
ADAM17 2 9630245 9630245 C2BBE1_LARGE_IN... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 C2BBE1_LARGE_IN... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.G67S 6 151626918 151626918 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP G A uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 C2BBE1_LARGE_IN... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 7 91625222 91625222 C2BBE1_LARGE_IN... 37 Intron SNP A G uc003ulg.2 AKAP9_uc003uld.... Hybrid_Cap... view
ALPK2 p.1388_1389FF>F 18 56203253 56203255 C2BBE1_LARGE_IN... 37 In_Frame_Del Del AAG - uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
APC p.Q1367* 5 112175390 112175390 C2BBE1_LARGE_IN... 37 Nonsense_Mutation SNP C T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
CACNB2 10 18828721 18828722 C2BBE1_LARGE_IN... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAMK2A 5 149602223 149602224 C2BBE1_LARGE_IN... 37 3'UTR Del AC - uc003lrt.2 CAMK2A_uc003lrs... Hybrid_Cap...
CDC42BPA p.G1108E 1 227222404 227222404 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP C T uc001hqr.2 CDC42BPA_uc001h... Hybrid_Cap... view
CDK11B 1 1654066 1654068 C2BBE1_LARGE_IN... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CIT p.248_249insS 12 120270583 120270584 C2BBE1_LARGE_IN... 37 In_Frame_Ins Ins - TGA uc001txj.1 CIT_uc001txi.1_... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 C2BBE1_LARGE_IN... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 3 1339681 1339686 C2BBE1_LARGE_IN... 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CTNNB1 p.G245A 3 41267063 41267063 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP G C uc010hia.1 CTNNB1_uc003ckp... Hybrid_Cap... view
DACH1 13 72014625 72014626 C2BBE1_LARGE_IN... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DDX10 p.R331Q 11 108562619 108562619 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP G A uc001pkm.2 DDX10_uc001pkl.... Hybrid_Cap... view
DST 6 56507502 56507502 C2BBE1_LARGE_IN... 37 Intron SNP C A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
EIF4E 4 99808137 99808141 C2BBE1_LARGE_IN... 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
EP300 22 41574970 41574972 C2BBE1_LARGE_IN... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA7 p.E884A 6 93956585 93956585 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP T G uc003poe.2 EPHA7_uc003pof.... Hybrid_Cap... view
ERBB3 p.D857N 12 56491677 56491677 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP G A uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap... view
ERG p.G344R 21 39755756 39755756 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP C T uc010gnw.2 ERG_uc002yxa.2_... Hybrid_Cap... view
ETV1 7 14028708 14028708 C2BBE1_LARGE_IN... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 C2BBE1_LARGE_IN... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
GATA2 p.S54W 3 128205714 128205714 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP G C uc003ekm.3 GATA2_uc003ekn.... Hybrid_Cap... view
GRAMD1B p.Y437C 11 123480563 123480563 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP A G uc001pyw.2 GRAMD1B_uc001py... Hybrid_Cap... view
GRIA3 X 122318386 122318387 C2BBE1_LARGE_IN... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 C2BBE1_LARGE_IN... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HERC2 p.M39T 15 28544619 28544619 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP A G uc001zbj.2 HERC2_uc001zbl.... Hybrid_Cap... view
HIF1A 14 62213929 62213930 C2BBE1_LARGE_IN... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 C2BBE1_LARGE_IN... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
IL17RD p.R660W 3 57131753 57131753 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP G A uc003dil.2 IL17RD_uc003dik... Hybrid_Cap... view
ILK 11 6630029 6630029 C2BBE1_LARGE_IN... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 C2BBE1_LARGE_IN... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 C2BBE1_LARGE_IN... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LRP1B p.S4007C 2 141093280 141093280 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP G C uc002tvj.1 Hybrid_Cap... view
MAF 16 79628537 79628537 C2BBE1_LARGE_IN... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 C2BBE1_LARGE_IN... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 C2BBE1_LARGE_IN... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 C2BBE1_LARGE_IN... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MLL3 p.G2579D 7 151874802 151874802 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP C T uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap... view
MTOR p.Y1151C 1 11272478 11272478 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP T C uc001asd.2 Hybrid_Cap... view
NCAM1 11 112832307 112832308 C2BBE1_LARGE_IN... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 C2BBE1_LARGE_IN... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 C2BBE1_LARGE_IN... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 C2BBE1_LARGE_IN... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NOS3 p.R1172C 7 150711159 150711159 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP C T uc003wif.2 NOS3_uc011kuy.1... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881820 50881821 C2BBE1_LARGE_IN... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUP214 p.R854Q 9 134038398 134038398 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP G A uc004cag.2 NUP214_uc004cah... Hybrid_Cap... view
PCDH15 p.L1632S 10 55582612 55582612 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP A G uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap... view
PDE4DIP p.Q1665fs 1 144873963 144873963 C2BBE1_LARGE_IN... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 C2BBE1_LARGE_IN... 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDGFRA 4 55130162 55130162 C2BBE1_LARGE_IN... 37 Intron Del T - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PGGT1B 5 114548071 114548072 C2BBE1_LARGE_IN... 37 3'UTR Ins - C uc003kqw.3 PGGT1B_uc003kqx... Hybrid_Cap...
PGR 11 100933598 100933599 C2BBE1_LARGE_IN... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2B p.R751W 1 204418408 204418408 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP G A uc001haw.2 PIK3C2B_uc010pq... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 C2BBE1_LARGE_IN... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PPP1R3A 7 113517742 113517742 C2BBE1_LARGE_IN... 37 3'UTR SNP T C uc010ljy.1 Hybrid_Cap... view
RCBTB2 p.N156D 13 49086930 49086930 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP T C uc010tgg.1 RCBTB2_uc001vch... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 C2BBE1_LARGE_IN... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
ROS1 p.Q1437K 6 117674165 117674165 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP G T uc003pxp.1 ROS1_uc011ebi.1... Hybrid_Cap... view
RPGRIP1 p.E489K 14 21788334 21788334 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP G A uc001wag.2 RPGRIP1_uc001wa... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 C2BBE1_LARGE_IN... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 C2BBE1_LARGE_IN... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SMAD4 p.D351H 18 48591888 48591888 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP G C uc010xdp.1 SMAD4_uc002lfb.... Hybrid_Cap... view
SMG1 p.S889I 16 18880593 18880593 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP C A uc002dfm.2 SMG1_uc010bwb.2... Hybrid_Cap... view
SRMS p.V171fs 20 62174799 62174799 C2BBE1_LARGE_IN... 37 Frame_Shift_Del Del G - uc002yfi.1 Hybrid_Cap...
STK31 7 23872024 23872025 C2BBE1_LARGE_IN... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STYK1 12 10772652 10772653 C2BBE1_LARGE_IN... 37 3'UTR Ins - TG uc001qys.2 Hybrid_Cap...
TGS1 8 56737320 56737320 C2BBE1_LARGE_IN... 37 3'UTR SNP A G uc003xsj.3 TGS1_uc010lyh.2... Hybrid_Cap... view
TMEM123 11 102269398 102269398 C2BBE1_LARGE_IN... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TP53 p.E204* 17 7578239 7578239 C2BBE1_LARGE_IN... 37 Nonsense_Mutation SNP C A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TRPS1 8 116635872 116635873 C2BBE1_LARGE_IN... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TSSK1B p.M66V 5 112770341 112770341 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP T C uc003kqm.2 MCC_uc003kql.3_... Hybrid_Cap... view
TTN p.W25534* 2 179426553 179426553 C2BBE1_LARGE_IN... 37 Nonsense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.P23906A 2 179431439 179431439 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP G C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.E20602D 2 179441461 179441461 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP T G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.A18579T 2 179452695 179452695 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP C T rs72646853 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.P12112A 2 179495647 179495647 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP G C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.C6437S 2 179585704 179585704 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP C G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VDR p.R171Q 12 48251387 48251387 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP C T uc001rql.2 VDR_uc001rqm.2_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 C2BBE1_LARGE_IN... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WHSC1 p.D560H 4 1940181 1940181 C2BBE1_LARGE_IN... 37 Missense_Mutation SNP G C uc003gdz.3 WHSC1_uc003geb.... Hybrid_Cap... view