Annotation Summary for Cell Line: KMRC-1  

Cell line primary name: KMRC-1
Cell line aliases:
Gender: M
Site Primary: kidney
Histology: carcinoma
Hist Subtype1: clear_cell_renal_cell_carcinoma
Notes:
Source: HSRRB
Expression arrays: PARES_p_NCLE_RNA_Redo_HG-U133_Plus_2_D02_257672
SNP arrays: ARLES_p_NCLE_DNAAffy2_S_GenomeWideSNP_6_C11_256070
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in KMRC-1

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 KMRC1_KIDNEY 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABL2 p.G742R 1 179078178 179078178 KMRC1_KIDNEY 37 Missense_Mutation SNP C T uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap... view
ADAM28 8 24211994 24211997 KMRC1_KIDNEY 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 KMRC1_KIDNEY 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK1 4 113347609 113347610 KMRC1_KIDNEY 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 KMRC1_KIDNEY 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ANAPC5 p.L307L 12 121773365 121773365 KMRC1_KIDNEY 37 Silent SNP A G uc001uag.2 ANAPC5_uc001uae... Hybrid_Cap... view
ASPH p.A264_splice 8 62550924 62550925 KMRC1_KIDNEY 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
AURKC 19 57742494 57742507 KMRC1_KIDNEY 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BAI1 p.N444S 8 143558854 143558854 KMRC1_KIDNEY 37 Missense_Mutation SNP A G uc003ywm.2 Hybrid_Cap... view
BCR 22 23631813 23631814 KMRC1_KIDNEY 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BLM p.Y865C 15 91326090 91326090 KMRC1_KIDNEY 37 Missense_Mutation SNP A G uc002bpr.2 BLM_uc010uqh.1_... Hybrid_Cap... view
C6ORF97 p.L601H 6 151936669 151936669 KMRC1_KIDNEY 37 Missense_Mutation SNP T A uc003qol.2 Hybrid_Cap... view
CACNB2 10 18828721 18828722 KMRC1_KIDNEY 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAMK2A 5 149602223 149602224 KMRC1_KIDNEY 37 3'UTR Del AC - uc003lrt.2 CAMK2A_uc003lrs... Hybrid_Cap...
CCND1 11 69455946 69455946 KMRC1_KIDNEY 37 5'UTR SNP A G uc001opa.2 Hybrid_Cap... view
CDK11B 1 1654066 1654068 KMRC1_KIDNEY 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDKL2 p.V304A 4 76523370 76523370 KMRC1_KIDNEY 37 Missense_Mutation SNP A G uc011cbp.1 CDKL2_uc003hiq.... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 KMRC1_KIDNEY 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 22 19196673 19196674 KMRC1_KIDNEY 37 Intron Ins - A uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN1 12 41463855 41463855 KMRC1_KIDNEY 37 3'UTR SNP C T rs442465 uc001rmm.1 CNTN1_uc001rmn.... Hybrid_Cap... view
CUBN p.L1484P 10 17026178 17026178 KMRC1_KIDNEY 37 Missense_Mutation SNP A G uc001ioo.2 Hybrid_Cap... view
DGKB 7 14216345 14216346 KMRC1_KIDNEY 37 Intron Ins - AGACT uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap...
DUSP6 12 89742861 89742864 KMRC1_KIDNEY 37 3'UTR Del TCTC - uc001tay.2 DUSP6_uc001taz.... Hybrid_Cap...
EDNRB p.N187I 13 78492398 78492398 KMRC1_KIDNEY 37 Missense_Mutation SNP T A uc001vkp.1 EDNRB_uc001vkq.... Hybrid_Cap... view
EPHA8 p.Y200C 1 22903149 22903149 KMRC1_KIDNEY 37 Missense_Mutation SNP A G uc001bfx.1 EPHA8_uc001bfw.... Hybrid_Cap... view
ERBB3 p.R967K 12 56493492 56493492 KMRC1_KIDNEY 37 Missense_Mutation SNP G A uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap... view
ETV1 7 14028708 14028708 KMRC1_KIDNEY 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FADD 11 70052727 70052727 KMRC1_KIDNEY 37 3'UTR SNP G A uc001opm.2 Hybrid_Cap... view
FAM132A 1 1177919 1177919 KMRC1_KIDNEY 37 3'UTR Del T - uc001adl.1 Hybrid_Cap...
FGFR1OP 6 167453519 167453520 KMRC1_KIDNEY 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 KMRC1_KIDNEY 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 KMRC1_KIDNEY 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 KMRC1_KIDNEY 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FOXP1 3 71008341 71008342 KMRC1_KIDNEY 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 KMRC1_KIDNEY 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 KMRC1_KIDNEY 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 KMRC1_KIDNEY 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HNF1A 12 121434630 121434631 KMRC1_KIDNEY 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 KMRC1_KIDNEY 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
IKBKE p.R228Q 1 206650163 206650163 KMRC1_KIDNEY 37 Missense_Mutation SNP G A uc001hdz.1 IKBKE_uc009xbu.... Hybrid_Cap... view
ILK 11 6630029 6630029 KMRC1_KIDNEY 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 KMRC1_KIDNEY 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KDR p.S1037L 4 55956205 55956205 KMRC1_KIDNEY 37 Missense_Mutation SNP G A uc003has.2 KDR_uc003hat.1_... Hybrid_Cap... view
KLK7 19 51480672 51480675 KMRC1_KIDNEY 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LATS2 13 21620222 21620223 KMRC1_KIDNEY 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
LIMK2 p.R429E 22 31667152 31667153 KMRC1_KIDNEY 37 Missense_Mutation DNP CG GA uc003akj.2 LIMK2_uc003akg.... Hybrid_Cap...
LRP1B p.C129G 2 142012169 142012169 KMRC1_KIDNEY 37 Missense_Mutation SNP A C uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 KMRC1_KIDNEY 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 15 66679649 66679650 KMRC1_KIDNEY 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MAP2K3 p.A337V 17 21217508 21217508 KMRC1_KIDNEY 37 Missense_Mutation SNP C T uc002gys.2 MAP2K3_uc002gyt... Hybrid_Cap... view
MAP3K14 p.R218_splice 17 43364293 43364294 KMRC1_KIDNEY 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K14 p.D60D 17 43367932 43367932 KMRC1_KIDNEY 37 Silent SNP G A uc002iiw.1 MAP3K14_uc002ii... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 KMRC1_KIDNEY 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MARK4 p.G30V 19 45762284 45762284 KMRC1_KIDNEY 37 Missense_Mutation SNP G T uc002pba.1 MARK4_uc002paz.... Hybrid_Cap... view
MAST4 p.L149M 5 66055618 66055618 KMRC1_KIDNEY 37 Missense_Mutation SNP C A rs75296932 uc003jur.3 MAST4_uc010iwz.... Hybrid_Cap... view
MCM4 p.M839V 8 48889261 48889261 KMRC1_KIDNEY 37 Missense_Mutation SNP A G uc003xqk.1 MCM4_uc003xql.1... Hybrid_Cap... view
MECOM 3 169381200 169381201 KMRC1_KIDNEY 37 5'UTR Ins - T uc011bpj.1 MECOM_uc011bpk.... Hybrid_Cap...
MMP2 p.P506R 16 55530882 55530882 KMRC1_KIDNEY 37 Missense_Mutation SNP C G uc002ehz.3 MMP2_uc010vhd.1... Hybrid_Cap... view
MYCL1 p.G57E 1 40366937 40366937 KMRC1_KIDNEY 37 Missense_Mutation SNP C T uc001cer.1 MYCL1_uc001ces.... Hybrid_Cap... view
MYLK 3 123332876 123332876 KMRC1_KIDNEY 37 3'UTR Del T - rs115544676 uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap...
MYLK p.E1066del 3 123419117 123419119 KMRC1_KIDNEY 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
NCAM1 11 112832307 112832308 KMRC1_KIDNEY 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 KMRC1_KIDNEY 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK11 3 130748533 130748533 KMRC1_KIDNEY 37 5'UTR SNP G A uc003eny.2 NEK11_uc003enx.... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 KMRC1_KIDNEY 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NEK9 p.R87Q 14 75590886 75590886 KMRC1_KIDNEY 37 Missense_Mutation SNP C T uc001xrl.2 Hybrid_Cap... view
NFIA 1 61921185 61921186 KMRC1_KIDNEY 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NPR1 1 153665919 153665920 KMRC1_KIDNEY 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPRL2 3 50384978 50384978 KMRC1_KIDNEY 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 KMRC1_KIDNEY 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 KMRC1_KIDNEY 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H3 p.F361L 11 47289501 47289501 KMRC1_KIDNEY 37 Missense_Mutation SNP C A uc001nel.2 MADD_uc001neq.2... Hybrid_Cap... view
OBSCN p.E2669D 1 228468307 228468307 KMRC1_KIDNEY 37 Missense_Mutation SNP A T uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
PAWR p.R220T 12 80007379 80007379 KMRC1_KIDNEY 37 Missense_Mutation SNP C G uc001syx.2 Hybrid_Cap... view
PAX3 2 223066017 223066018 KMRC1_KIDNEY 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PICALM p.N50S 11 85742635 85742635 KMRC1_KIDNEY 37 Missense_Mutation SNP T C uc001pbm.2 PICALM_uc001pbl... Hybrid_Cap... view
PIK3C2A p.A300P 11 17190391 17190391 KMRC1_KIDNEY 37 Missense_Mutation SNP C G uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 KMRC1_KIDNEY 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 KMRC1_KIDNEY 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RBL1 p.A684T 20 35663765 35663765 KMRC1_KIDNEY 37 Missense_Mutation SNP C T uc002xgi.2 RBL1_uc010zvt.1... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 KMRC1_KIDNEY 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
ROS1 p.F992_splice 6 117686369 117686369 KMRC1_KIDNEY 37 Splice_Site_SNP SNP T A uc003pxp.1 ROS1_uc011ebi.1... Hybrid_Cap... view
RPL22 p.K10fs 1 6257799 6257800 KMRC1_KIDNEY 37 Frame_Shift_Ins Ins - A uc001amd.2 RPL22_uc001ame.... Hybrid_Cap...
SCYL1 p.E690E 11 65305476 65305476 KMRC1_KIDNEY 37 Silent SNP G A uc001oea.1 SCYL1_uc009yqk.... Hybrid_Cap... view
SGK269 15 77406377 77406377 KMRC1_KIDNEY 37 3'UTR SNP G A uc002bcm.2 Hybrid_Cap... view
SGK494 p.D126H 17 26940312 26940312 KMRC1_KIDNEY 37 Missense_Mutation SNP C G uc002hbr.1 SGK494_uc010waq... Hybrid_Cap... view
SIK2 p.A368T 11 111582935 111582935 KMRC1_KIDNEY 37 Missense_Mutation SNP G A uc001plt.2 Hybrid_Cap... view
SMARCB1 p.P156S 22 24143261 24143261 KMRC1_KIDNEY 37 Missense_Mutation SNP C T uc002zyd.2 SMARCB1_uc002zy... Hybrid_Cap... view
SMURF2 p.T189A 17 62579583 62579583 KMRC1_KIDNEY 37 Missense_Mutation SNP T C uc002jep.1 SMURF2_uc002jeq... Hybrid_Cap... view
STK31 7 23872024 23872025 KMRC1_KIDNEY 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TEC 4 48139307 48139310 KMRC1_KIDNEY 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TEX14 p.L43F 17 56729236 56729236 KMRC1_KIDNEY 37 Missense_Mutation SNP G A uc010dcz.1 TEX14_uc002iwr.... Hybrid_Cap... view
TG p.Q1816R 8 133973298 133973298 KMRC1_KIDNEY 37 Missense_Mutation SNP A G uc003ytw.2 TG_uc010mdw.2_M... Hybrid_Cap... view
TGFB2 1 218519928 218519929 KMRC1_KIDNEY 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TMEM123 11 102269398 102269398 KMRC1_KIDNEY 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNFRSF13B p.G76S 17 16852271 16852271 KMRC1_KIDNEY 37 Missense_Mutation SNP C T uc002gqs.1 TNFRSF13B_uc010... Hybrid_Cap... view
TTN 2 179391639 179391640 KMRC1_KIDNEY 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.D8508N 2 179571347 179571347 KMRC1_KIDNEY 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 KMRC1_KIDNEY 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VPS13B p.P3773L 8 100880544 100880544 KMRC1_KIDNEY 37 Missense_Mutation SNP C T uc003yiv.2 VPS13B_uc003yiw... Hybrid_Cap... view