Annotation Summary for Cell Line: SK-CO-1  

Cell line primary name: SK-CO-1
Cell line aliases:
Gender: M
Site Primary: large_intestine
Histology: carcinoma
Hist Subtype1: adenocarcinoma
Notes:
Source: ATCC
Expression arrays: CRAZY_p_NCLE_RNA10_HG-U133_Plus_2_H03_569456
SNP arrays: FASTS_p_NCLE_DNAAffy4_S_GenomeWideSNP_6_E06_335294
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SK-CO-1

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ADAM17 2 9630245 9630245 SKCO1_LARGE_INT... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 SKCO1_LARGE_INT... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADCK1 14 78390632 78390637 SKCO1_LARGE_INT... 37 Intron Del AAACT... - rs78274857;rs74969652 uc001xui.2 ADCK1_uc010tvo.... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 SKCO1_LARGE_INT... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.K1227E 7 91645509 91645509 SKCO1_LARGE_INT... 37 Missense_Mutation SNP A G uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap... view
AKAP9 7 91738028 91738028 SKCO1_LARGE_INT... 37 Intron SNP C A uc003ulg.2 AKAP9_uc003ulf.... Hybrid_Cap... view
ALPK2 p.EDTST1006del 18 56204388 56204402 SKCO1_LARGE_INT... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
APC p.F1089fs 5 112174556 112174556 SKCO1_LARGE_INT... 37 Frame_Shift_Del Del T - uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap...
ARHGAP26 p.I634V 5 142526858 142526858 SKCO1_LARGE_INT... 37 Missense_Mutation SNP A G uc011dbj.1 ARHGAP26_uc003l... Hybrid_Cap... view
AURKC 19 57742494 57742507 SKCO1_LARGE_INT... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BAI1 p.V745L 8 143566050 143566050 SKCO1_LARGE_INT... 37 Missense_Mutation SNP G T uc003ywm.2 Hybrid_Cap... view
BCL3 19 45262965 45262965 SKCO1_LARGE_INT... 37 3'UTR Del C - uc010xxe.1 Hybrid_Cap...
BTG1 12 92537706 92537707 SKCO1_LARGE_INT... 37 3'UTR Ins - T rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
CABC1 1 227171585 227171585 SKCO1_LARGE_INT... 37 Intron Del T - uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CDK11B 1 1654066 1654068 SKCO1_LARGE_INT... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CHIC2 4 54876194 54876194 SKCO1_LARGE_INT... 37 3'UTR SNP G A uc003haj.1 PDGFRA_uc003haa... Hybrid_Cap... view
CTSS p.R48Q 1 150730440 150730440 SKCO1_LARGE_INT... 37 Missense_Mutation SNP C T uc001evn.2 CTSS_uc010pcj.1... Hybrid_Cap... view
DACH1 13 72014625 72014626 SKCO1_LARGE_INT... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DDR2 1 162750211 162750211 SKCO1_LARGE_INT... 37 3'UTR Del T - uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap...
DST 6 56481381 56481381 SKCO1_LARGE_INT... 37 Intron SNP G A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DSTYK p.E190A 1 205156631 205156631 SKCO1_LARGE_INT... 37 Missense_Mutation SNP T G uc001hbw.2 DSTYK_uc001hbx.... Hybrid_Cap... view
DTX1 p.G58S 12 113496169 113496169 SKCO1_LARGE_INT... 37 Missense_Mutation SNP G A uc001tuk.1 Hybrid_Cap... view
EEF2K p.T149M 16 22262012 22262012 SKCO1_LARGE_INT... 37 Missense_Mutation SNP C T uc002dki.2 EEF2K_uc002dkh.... Hybrid_Cap... view
EP300 p.P842S 22 41545908 41545909 SKCO1_LARGE_INT... 37 Missense_Mutation DNP CC TT uc003azl.3 Hybrid_Cap...
EPHA6 3 97367230 97367231 SKCO1_LARGE_INT... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHB6 7 142565931 142565931 SKCO1_LARGE_INT... 37 Intron SNP G A uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap... view
ERBB4 p.G758C 2 212483931 212483931 SKCO1_LARGE_INT... 37 Missense_Mutation SNP C A uc002veg.1 ERBB4_uc002veh.... Hybrid_Cap... view
ERBB4 p.L567F 2 212537906 212537906 SKCO1_LARGE_INT... 37 Missense_Mutation SNP G A uc002veg.1 ERBB4_uc002veh.... Hybrid_Cap... view
FCGR2B 1 161647539 161647539 SKCO1_LARGE_INT... 37 3'UTR Del C - uc001gaz.1 FCGR2B_uc001gay... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 SKCO1_LARGE_INT... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 SKCO1_LARGE_INT... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLCN p.I196V 17 17127268 17127268 SKCO1_LARGE_INT... 37 Missense_Mutation SNP T C uc002gra.3 PLD6_uc010cpn.2... Hybrid_Cap... view
FLI1 11 128638217 128638217 SKCO1_LARGE_INT... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 SKCO1_LARGE_INT... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FOXO1 13 41240424 41240424 SKCO1_LARGE_INT... 37 5'UTR SNP G A uc001uxl.3 Hybrid_Cap... view
GNAS p.R844C 20 57484420 57484420 SKCO1_LARGE_INT... 37 Missense_Mutation SNP C T rs11554273 uc002xzw.2 GNAS_uc002xzt.2... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 SKCO1_LARGE_INT... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 SKCO1_LARGE_INT... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GSK3B p.P392S 3 119562162 119562162 SKCO1_LARGE_INT... 37 Missense_Mutation SNP G A uc003edn.2 GSK3B_uc003edo.... Hybrid_Cap... view
GUCY2C 12 14827464 14827466 SKCO1_LARGE_INT... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
GUCY2D p.G727S 17 7916486 7916486 SKCO1_LARGE_INT... 37 Missense_Mutation SNP G A uc002gjt.2 Hybrid_Cap... view
HDLBP p.D220V 2 242195813 242195813 SKCO1_LARGE_INT... 37 Missense_Mutation SNP T A uc002waz.2 HDLBP_uc002wba.... Hybrid_Cap... view
HECW1 p.I142F 7 43360305 43360305 SKCO1_LARGE_INT... 37 Missense_Mutation SNP A T uc003tid.1 HECW1_uc011kbi.... Hybrid_Cap... view
HECW1 p.A1546P 7 43594316 43594316 SKCO1_LARGE_INT... 37 Missense_Mutation SNP G C uc003tid.1 HECW1_uc011kbi.... Hybrid_Cap... view
HIF1A 14 62213929 62213930 SKCO1_LARGE_INT... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A p.G288fs 12 121432117 121432118 SKCO1_LARGE_INT... 37 Frame_Shift_Ins Ins - C rs56348580 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 SKCO1_LARGE_INT... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 SKCO1_LARGE_INT... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JARID2 6 15246575 15246576 SKCO1_LARGE_INT... 37 5'UTR Ins - T uc003nbj.2 JARID2_uc011diu... Hybrid_Cap...
KLK7 19 51480672 51480675 SKCO1_LARGE_INT... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KRAS p.G12V 12 25398284 25398284 SKCO1_LARGE_INT... 37 Missense_Mutation SNP C A uc001rgp.1 KRAS_uc001rgq.1... Hybrid_Cap... view
KSR1 p.G343D 17 25924433 25924433 SKCO1_LARGE_INT... 37 Missense_Mutation SNP G A uc010crg.2 KSR1_uc002gzj.1... Hybrid_Cap... view
LMTK2 p.F121L 7 97770840 97770840 SKCO1_LARGE_INT... 37 Missense_Mutation SNP C G uc003upd.1 Hybrid_Cap... view
LRP6 12 12419797 12419797 SKCO1_LARGE_INT... 37 5'UTR SNP G A uc001rah.3 LRP6_uc010shl.1... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 SKCO1_LARGE_INT... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 SKCO1_LARGE_INT... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 SKCO1_LARGE_INT... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
NCAM1 11 112832307 112832308 SKCO1_LARGE_INT... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SKCO1_LARGE_INT... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 SKCO1_LARGE_INT... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NPR1 1 153665919 153665920 SKCO1_LARGE_INT... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPRL2 3 50387614 50387614 SKCO1_LARGE_INT... 37 Intron SNP G A uc003daj.1 NPRL2_uc003dai.... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881820 50881821 SKCO1_LARGE_INT... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
OXSR1 p.H391Y 3 38287626 38287626 SKCO1_LARGE_INT... 37 Missense_Mutation SNP C T uc003chy.2 OXSR1_uc010hhb.... Hybrid_Cap... view
PAX3 2 223066017 223066018 SKCO1_LARGE_INT... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PCDH15 p.D542E 10 55913033 55913033 SKCO1_LARGE_INT... 37 Missense_Mutation SNP G C uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap... view
PDE4DIP 1 144863860 144863861 SKCO1_LARGE_INT... 37 Intron Ins - T rs33949841 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDGFRA 4 55131002 55131002 SKCO1_LARGE_INT... 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PGGT1B 5 114548071 114548072 SKCO1_LARGE_INT... 37 3'UTR Ins - C uc003kqw.3 PGGT1B_uc003kqx... Hybrid_Cap...
PGR 11 100933598 100933599 SKCO1_LARGE_INT... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2A 11 17111198 17111199 SKCO1_LARGE_INT... 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PIK3C2A p.S644R 11 17156544 17156544 SKCO1_LARGE_INT... 37 Missense_Mutation SNP T G uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 SKCO1_LARGE_INT... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PKN2 p.L384del 1 89250482 89250484 SKCO1_LARGE_INT... 37 In_Frame_Del Del TCT - uc001dmn.2 PKN2_uc001dmm.1... Hybrid_Cap...
PLK1 p.Q283* 16 23695221 23695221 SKCO1_LARGE_INT... 37 Nonsense_Mutation SNP C T uc002dlz.1 Hybrid_Cap... view
PMS1 2 190670539 190670540 SKCO1_LARGE_INT... 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PRKCA 17 64298959 64298960 SKCO1_LARGE_INT... 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 SKCO1_LARGE_INT... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRRX1 p.A231A 1 170705282 170705282 SKCO1_LARGE_INT... 37 Silent SNP C T uc001ghf.2 PRRX1_uc001ghe.... Hybrid_Cap... view
RET p.E991K 10 43620362 43620362 SKCO1_LARGE_INT... 37 Missense_Mutation SNP G A uc001jal.2 RET_uc001jak.1_... Hybrid_Cap... view
RPS6KB1 p.P505L 17 58024085 58024085 SKCO1_LARGE_INT... 37 Missense_Mutation SNP C T uc002ixy.2 RPS6KB1_uc010dd... Hybrid_Cap... view
RPTOR p.P1036S 17 78919547 78919547 SKCO1_LARGE_INT... 37 Missense_Mutation SNP C T uc002jyt.1 RPTOR_uc010wug.... Hybrid_Cap... view
SACS p.P2259L 13 23911239 23911239 SKCO1_LARGE_INT... 37 Missense_Mutation SNP G A uc001uon.2 SACS_uc001uoo.2... Hybrid_Cap... view
SEPT9 17 75494787 75494788 SKCO1_LARGE_INT... 37 3'UTR Ins - C rs5822173 uc002jts.3 SEPT9_uc010wtk.... Hybrid_Cap...
SGK3 p.D161E 8 67743504 67743504 SKCO1_LARGE_INT... 37 Missense_Mutation SNP C A uc003xwr.2 SGK3_uc003xwp.2... Hybrid_Cap... view
SPEN p.V1920I 1 16258493 16258493 SKCO1_LARGE_INT... 37 Missense_Mutation SNP G A uc001axk.1 SPEN_uc010obp.1... Hybrid_Cap... view
STK31 7 23872024 23872025 SKCO1_LARGE_INT... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STK32A p.P81R 5 146658943 146658943 SKCO1_LARGE_INT... 37 Missense_Mutation SNP C G uc011dbw.1 STK32A_uc003lol... Hybrid_Cap... view
TEC 4 48139307 48139310 SKCO1_LARGE_INT... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TLK1 2 171850178 171850179 SKCO1_LARGE_INT... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 SKCO1_LARGE_INT... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TOP2A p.K1110E 17 38555150 38555150 SKCO1_LARGE_INT... 37 Missense_Mutation SNP T C uc002huq.2 Hybrid_Cap... view
TP53BP1 15 43707551 43707551 SKCO1_LARGE_INT... 37 Intron SNP C T uc001zrr.3 TP53BP1_uc010ud... Hybrid_Cap... view
TRAF2 9 139820484 139820484 SKCO1_LARGE_INT... 37 3'UTR SNP G A uc010nbu.2 TRAF2_uc004cjv.... Hybrid_Cap... view
TRIM28 p.P812R 19 59061847 59061847 SKCO1_LARGE_INT... 37 Missense_Mutation SNP C G uc002qtg.1 TRIM28_uc010eut... Hybrid_Cap... view
TRPS1 8 116635872 116635873 SKCO1_LARGE_INT... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTBK1 p.E771del 6 43250726 43250728 SKCO1_LARGE_INT... 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
UNC13C p.P1571L 15 54630686 54630686 SKCO1_LARGE_INT... 37 Missense_Mutation SNP C T uc002ack.2 UNC13C_uc002acl... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 SKCO1_LARGE_INT... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WNK4 p.R525H 17 40939393 40939393 SKCO1_LARGE_INT... 37 Missense_Mutation SNP G A uc002ibj.2 WNK4_uc010wgx.1... Hybrid_Cap... view
ZNF643 p.G108W 1 40922725 40922725 SKCO1_LARGE_INT... 37 Missense_Mutation SNP G T uc001cfn.1 ZNF643_uc001cfl... Hybrid_Cap... view