Annotation Summary for Cell Line: RERF-GC-1B  

Cell line primary name: RERF-GC-1B
Cell line aliases:
Gender: M
Site Primary: stomach
Histology: carcinoma
Hist Subtype1: NS
Notes:
Source: HSRRB
Expression arrays: AGENT_p_NCLE_RNA6_HG-U133_Plus_2_D07_436562
SNP arrays: BOWER_p_NCLE_DNAAffy8_GenomeWideSNP_6_G02_464676
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in RERF-GC-1B

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 RERFGC1B_STOMAC... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM28 8 24211994 24211997 RERFGC1B_STOMAC... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 RERFGC1B_STOMAC... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK1 4 113347609 113347610 RERFGC1B_STOMAC... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 RERFGC1B_STOMAC... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ARHGEF10 8 1824714 1824714 RERFGC1B_STOMAC... 37 Intron SNP C T uc003wpr.2 ARHGEF10_uc003w... Hybrid_Cap... view
BCL10 p.T162M 1 85733527 85733527 RERFGC1B_STOMAC... 37 Missense_Mutation SNP G A uc001dkz.2 Hybrid_Cap... view
BCR 22 23631813 23631814 RERFGC1B_STOMAC... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BRCA2 p.L184P 13 32900670 32900670 RERFGC1B_STOMAC... 37 Missense_Mutation SNP T C rs80358775 uc001uub.1 BRCA2_uc001uua.... Hybrid_Cap... view
BTG1 12 92537706 92537707 RERFGC1B_STOMAC... 37 3'UTR Ins - T rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
BUB1B p.M396L 15 40488873 40488873 RERFGC1B_STOMAC... 37 Missense_Mutation SNP A C uc001zkx.3 BUB1B_uc010ucl.... Hybrid_Cap... view
CABC1 1 227171585 227171585 RERFGC1B_STOMAC... 37 Intron Del T - uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CACNB2 p.A566S 10 18828366 18828366 RERFGC1B_STOMAC... 37 Missense_Mutation SNP G T uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap... view
CDC42BPB p.E298_splice 14 103447360 103447360 RERFGC1B_STOMAC... 37 Splice_Site_SNP SNP T C uc001ymi.1 Hybrid_Cap... view
CDH1 p.I250N 16 68844161 68844161 RERFGC1B_STOMAC... 37 Missense_Mutation SNP T A uc002ewg.1 CDH1_uc010vlj.1... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 RERFGC1B_STOMAC... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
DDR2 1 162750211 162750212 RERFGC1B_STOMAC... 37 3'UTR Del TT - uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap...
DGKB 7 14216345 14216346 RERFGC1B_STOMAC... 37 Intron Ins - AGACT uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap...
DGKB p.P362L 7 14712603 14712603 RERFGC1B_STOMAC... 37 Missense_Mutation SNP G A uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap... view
DLC1 p.V1509I 8 12943382 12943382 RERFGC1B_STOMAC... 37 Missense_Mutation SNP C T uc003wwm.2 DLC1_uc003wwk.1... Hybrid_Cap... view
EPHA6 3 97367230 97367231 RERFGC1B_STOMAC... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHA7 p.D589A 6 93973610 93973610 RERFGC1B_STOMAC... 37 Missense_Mutation SNP T G uc003poe.2 EPHA7_uc003pof.... Hybrid_Cap... view
ERBB3 p.E981Q 12 56493625 56493625 RERFGC1B_STOMAC... 37 Missense_Mutation SNP G C uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 RERFGC1B_STOMAC... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 RERFGC1B_STOMAC... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 RERFGC1B_STOMAC... 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FN1 2 216244182 216244185 RERFGC1B_STOMAC... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FOXP1 3 71008341 71008342 RERFGC1B_STOMAC... 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
GNAS p.V277G 20 57429150 57429150 RERFGC1B_STOMAC... 37 Missense_Mutation SNP T G uc002xzw.2 GNAS_uc002xzt.2... Hybrid_Cap... view
GOPC 6 117923493 117923493 RERFGC1B_STOMAC... 37 5'UTR SNP C T uc003pxu.2 GOPC_uc003pxv.2... Hybrid_Cap... view
GRIA3 X 122318386 122318387 RERFGC1B_STOMAC... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 RERFGC1B_STOMAC... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 RERFGC1B_STOMAC... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 RERFGC1B_STOMAC... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 RERFGC1B_STOMAC... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
ILK 11 6630029 6630029 RERFGC1B_STOMAC... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INPP5D 2 234115560 234115560 RERFGC1B_STOMAC... 37 3'UTR SNP C T uc010zmo.1 INPP5D_uc010zmp... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 RERFGC1B_STOMAC... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KALRN p.N2973S 3 124438274 124438274 RERFGC1B_STOMAC... 37 Missense_Mutation SNP A G rs16835896 uc003ehg.2 KALRN_uc003ehk.... Hybrid_Cap... view
KLK7 19 51480672 51480675 RERFGC1B_STOMAC... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LAMA1 p.A1871V 18 6985284 6985284 RERFGC1B_STOMAC... 37 Missense_Mutation SNP G A uc002knm.2 LAMA1_uc010wzj.... Hybrid_Cap... view
LATS1 p.P237Q 6 150005515 150005515 RERFGC1B_STOMAC... 37 Missense_Mutation SNP G T rs56149740 uc003qmu.1 LATS1_uc010kif.... Hybrid_Cap... view
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 RERFGC1B_STOMAC... 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 RERFGC1B_STOMAC... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 RERFGC1B_STOMAC... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 RERFGC1B_STOMAC... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MARK3 14 103852297 103852297 RERFGC1B_STOMAC... 37 5'UTR SNP G T uc001ymz.3 MARK3_uc001ymx.... Hybrid_Cap... view
MCL1 1 150549737 150549744 RERFGC1B_STOMAC... 37 3'UTR Del GCTAG... - rs116997851 uc001euz.2 MCL1_uc010pch.1... Hybrid_Cap...
MEF2A p.QQ428del 15 100252710 100252715 RERFGC1B_STOMAC... 37 In_Frame_Del Del CAGCA... - uc010urw.1 MEF2A_uc010urv.... Hybrid_Cap...
MYH11 16 15808631 15808631 RERFGC1B_STOMAC... 37 Intron SNP A C rs78379755 uc002ddx.2 MYH11_uc002ddv.... Hybrid_Cap... view
MYLK p.E1066del 3 123419117 123419119 RERFGC1B_STOMAC... 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
NCAM1 11 112832307 112832308 RERFGC1B_STOMAC... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 RERFGC1B_STOMAC... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 RERFGC1B_STOMAC... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NEK9 14 75573065 75573067 RERFGC1B_STOMAC... 37 Intron Del AAA - uc001xrl.2 NEK9_uc001xrk.2... Hybrid_Cap...
NFIA 1 61921198 61921199 RERFGC1B_STOMAC... 37 3'UTR Ins - A rs74089375 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NLRP3 p.M523I 1 247588314 247588314 RERFGC1B_STOMAC... 37 Missense_Mutation SNP G T uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap... view
NPM1 5 170837734 170837734 RERFGC1B_STOMAC... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 RERFGC1B_STOMAC... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPRL2 3 50384978 50384978 RERFGC1B_STOMAC... 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 RERFGC1B_STOMAC... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NYNRIN p.S297R 14 24877889 24877889 RERFGC1B_STOMAC... 37 Missense_Mutation SNP A C uc001wpf.3 Hybrid_Cap... view
ORMDL3 p.K152N 17 38078809 38078809 RERFGC1B_STOMAC... 37 Missense_Mutation SNP C G uc002htj.1 ORMDL3_uc002hti... Hybrid_Cap... view
PAX3 2 223066017 223066018 RERFGC1B_STOMAC... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 RERFGC1B_STOMAC... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PCDH15 p.H117P 10 56129019 56129019 RERFGC1B_STOMAC... 37 Missense_Mutation SNP T G uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap... view
PDE4DIP 1 144931186 144931186 RERFGC1B_STOMAC... 37 Intron SNP C A uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDK4 7 95221928 95221928 RERFGC1B_STOMAC... 37 Intron Del A - uc003uoa.2 PDK4_uc003unz.2... Hybrid_Cap...
PIK3C2A 11 17111198 17111199 RERFGC1B_STOMAC... 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PLCB2 p.K464del 15 40589039 40589041 RERFGC1B_STOMAC... 37 In_Frame_Del Del TTC - uc001zld.2 PLCB2_uc010bbo.... Hybrid_Cap...
POU5F1B p.P255S 8 128428874 128428874 RERFGC1B_STOMAC... 37 Missense_Mutation SNP C T uc003ysf.2 LOC727677_uc003... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 RERFGC1B_STOMAC... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PSMA4 p.I11V 15 78834546 78834546 RERFGC1B_STOMAC... 37 Missense_Mutation SNP A G uc002bdu.3 PSMA4_uc010blf.... Hybrid_Cap... view
RASGRF1 15 79277150 79277151 RERFGC1B_STOMAC... 37 Intron Ins - C rs67045840;rs77640668 uc002beq.2 RASGRF1_uc002be... Hybrid_Cap...
RB1 p.S888_splice 13 49051489 49051489 RERFGC1B_STOMAC... 37 Splice_Site_SNP SNP A T uc001vcb.2 Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 RERFGC1B_STOMAC... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RECQL4 p.E301K 8 145741602 145741602 RERFGC1B_STOMAC... 37 Missense_Mutation SNP C T rs34633809 uc003zdj.2 LRRC14_uc003zdk... Hybrid_Cap... view
REL p.T433I 2 61149108 61149108 RERFGC1B_STOMAC... 37 Missense_Mutation SNP C T uc002sam.1 REL_uc002san.1_... Hybrid_Cap... view
RHPN2 p.T238T 19 33498966 33498966 RERFGC1B_STOMAC... 37 Silent SNP C T uc002nuf.2 RHPN2_uc010xro.... Hybrid_Cap... view
RIMS2 p.P1362T 8 105264028 105264028 RERFGC1B_STOMAC... 37 Missense_Mutation SNP C A uc003yls.2 RIMS2_uc003ylp.... Hybrid_Cap... view
ROBO2 3 77666937 77666937 RERFGC1B_STOMAC... 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
ROR2 p.E703D 9 94486667 94486667 RERFGC1B_STOMAC... 37 Missense_Mutation SNP C A uc004arj.1 ROR2_uc004ari.1... Hybrid_Cap... view
ROS1 p.Y1353S 6 117677875 117677875 RERFGC1B_STOMAC... 37 Missense_Mutation SNP T G rs35269727 uc003pxp.1 ROS1_uc011ebi.1... Hybrid_Cap... view
SIX4 p.S655F 14 61180507 61180507 RERFGC1B_STOMAC... 37 Missense_Mutation SNP G A uc001xfc.2 Hybrid_Cap... view
SLC45A3 p.L208V 1 205632297 205632297 RERFGC1B_STOMAC... 37 Missense_Mutation SNP G C uc001hda.1 SLC45A3_uc010pr... Hybrid_Cap... view
SMARCA4 p.Q915H 19 11132529 11132529 RERFGC1B_STOMAC... 37 Missense_Mutation SNP G C uc010dxo.2 SMARCA4_uc002mq... Hybrid_Cap... view
SPEN p.S3003L 1 16261743 16261743 RERFGC1B_STOMAC... 37 Missense_Mutation SNP C T uc001axk.1 SPEN_uc010obp.1... Hybrid_Cap... view
SSU72 1 1477324 1477325 RERFGC1B_STOMAC... 37 3'UTR Del CA - rs72502747 uc001agd.2 C1orf70_uc009vk... Hybrid_Cap...
STK31 7 23872024 23872025 RERFGC1B_STOMAC... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TAF1L p.C904Y 9 32632867 32632867 RERFGC1B_STOMAC... 37 Missense_Mutation SNP C T uc003zrg.1 Hybrid_Cap... view
TET1 p.N265D 10 70332888 70332888 RERFGC1B_STOMAC... 37 Missense_Mutation SNP A G uc001jok.3 Hybrid_Cap... view
TNK2 p.R445W 3 195605334 195605334 RERFGC1B_STOMAC... 37 Missense_Mutation SNP G A uc003fvt.1 TNK2_uc003fvs.1... Hybrid_Cap... view
TNN p.R1157W 1 175105998 175105998 RERFGC1B_STOMAC... 37 Missense_Mutation SNP C T uc001gkl.1 Hybrid_Cap... view
TP53 p.R213* 17 7578212 7578212 RERFGC1B_STOMAC... 37 Nonsense_Mutation SNP G A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TRIM33 1 114940211 114940212 RERFGC1B_STOMAC... 37 3'UTR Ins - T rs66490349 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 RERFGC1B_STOMAC... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
XPO4 p.S498_splice 13 21382722 21382722 RERFGC1B_STOMAC... 37 Splice_Site_SNP SNP T A uc001unq.3 Hybrid_Cap... view
ZNF608 5 124080775 124080776 RERFGC1B_STOMAC... 37 5'UTR Ins - A uc003ktq.1 ZNF608_uc003ktr... Hybrid_Cap...
ZNF668 16 31072386 31072386 RERFGC1B_STOMAC... 37 3'UTR SNP G A uc010caf.2 ZNF668_uc002eao... Hybrid_Cap... view