Annotation Summary for Cell Line: KMRC-20  

Cell line primary name: KMRC-20
Cell line aliases:
Gender:
Site Primary: kidney
Histology: carcinoma
Hist Subtype1: renal_cell_carcinoma
Notes:
Source: HSRRB
Expression arrays: BUNDS_p_NCLE_RNA5_HG-U133_Plus_2_D01_419718
SNP arrays: PODIA_p_NCLE_DNAAffy7_GenomeWideSNP_6_E01_437414
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in KMRC-20

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ACACB p.R615Q 12 109623409 109623409 KMRC20_KIDNEY 37 Missense_Mutation SNP G A uc001tob.2 ACACB_uc001toc.... Hybrid_Cap... view
ADAM28 8 24211994 24211997 KMRC20_KIDNEY 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 KMRC20_KIDNEY 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 KMRC20_KIDNEY 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ASPH p.A264_splice 8 62550924 62550925 KMRC20_KIDNEY 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
ASPSCR1 17 79970071 79970071 KMRC20_KIDNEY 37 Intron SNP G A uc002kcy.2 ASPSCR1_uc002kc... Hybrid_Cap... view
AURKC 19 57742494 57742507 KMRC20_KIDNEY 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BAP1 p.E31K 3 52443601 52443601 KMRC20_KIDNEY 37 Missense_Mutation SNP C T uc003ddx.2 PHF7_uc003ddy.2... Hybrid_Cap... view
BCR 22 23632777 23632778 KMRC20_KIDNEY 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
CACNB2 10 18828721 18828722 KMRC20_KIDNEY 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CDC7 1 91989998 91989998 KMRC20_KIDNEY 37 3'UTR SNP G A uc001doe.2 CDC7_uc001dof.2... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 KMRC20_KIDNEY 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 22 19196673 19196674 KMRC20_KIDNEY 37 Intron Ins - A uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 3 1339681 1339686 KMRC20_KIDNEY 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 KMRC20_KIDNEY 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CSNK1A1L p.G6S 13 37679378 37679378 KMRC20_KIDNEY 37 Missense_Mutation SNP C T uc001uwm.1 Hybrid_Cap... view
CSNK1G1 15 64592774 64592774 KMRC20_KIDNEY 37 5'UTR SNP G T uc002anh.1 CSNK1G1_uc002an... Hybrid_Cap... view
DDR1 p.P43T 6 30856726 30856726 KMRC20_KIDNEY 37 Missense_Mutation SNP C A uc003nrv.2 DDR1_uc010jse.2... Hybrid_Cap... view
DDR2 1 162750211 162750212 KMRC20_KIDNEY 37 3'UTR Del TT - uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap...
DMPK 19 46282512 46282512 KMRC20_KIDNEY 37 Intron SNP C T uc002pdi.1 DMPK_uc010xxs.1... Hybrid_Cap... view
EEF2K p.T595fs 16 22284966 22284966 KMRC20_KIDNEY 37 Frame_Shift_Del Del C - uc002dki.2 EEF2K_uc002dkh.... Hybrid_Cap...
EGF p.E1134fs 4 110932389 110932390 KMRC20_KIDNEY 37 Frame_Shift_Ins Ins - C rs11569144 uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap...
EIF2B5 3 183862821 183862821 KMRC20_KIDNEY 37 3'UTR SNP T C uc003fmp.2 EIF2B5_uc003fmq... Hybrid_Cap... view
EPHA6 3 97367230 97367231 KMRC20_KIDNEY 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
FBN1 15 48703177 48703177 KMRC20_KIDNEY 37 3'UTR SNP G T uc001zwx.1 FBN1_uc010beo.1... Hybrid_Cap... view
FBN2 p.T2278M 5 127623047 127623047 KMRC20_KIDNEY 37 Missense_Mutation SNP G A rs2307109 uc003kuu.2 Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 KMRC20_KIDNEY 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 KMRC20_KIDNEY 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FN1 2 216244182 216244185 KMRC20_KIDNEY 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GRIA3 X 122318386 122318387 KMRC20_KIDNEY 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
HEPH p.Y701H X 65423220 65423220 KMRC20_KIDNEY 37 Missense_Mutation SNP T C uc011moz.1 HEPH_uc004dwn.2... Hybrid_Cap... view
HIF1A p.S167fs 14 62193464 62193465 KMRC20_KIDNEY 37 Frame_Shift_Ins Ins - T uc001xfs.2 HIF1A_uc010tsc.... Hybrid_Cap...
ILK 11 6630029 6630029 KMRC20_KIDNEY 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 KMRC20_KIDNEY 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLF6 10 3821622 3821622 KMRC20_KIDNEY 37 3'UTR SNP T G uc001iha.2 KLF6_uc010qaj.1... Hybrid_Cap... view
KLK7 19 51480672 51480675 KMRC20_KIDNEY 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LATS2 13 21620222 21620223 KMRC20_KIDNEY 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 KMRC20_KIDNEY 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 KMRC20_KIDNEY 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K6 17 67516353 67516353 KMRC20_KIDNEY 37 Intron SNP A T rs77138194 uc002jij.2 MAP2K6_uc002jii... Hybrid_Cap... view
MAP3K14 p.R218_splice 17 43364293 43364294 KMRC20_KIDNEY 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP4K3 p.F333_splice 2 39536662 39536662 KMRC20_KIDNEY 37 Splice_Site_SNP SNP T A uc002rro.2 MAP4K3_uc002rrp... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 KMRC20_KIDNEY 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MAST1 p.T615R 19 12976570 12976570 KMRC20_KIDNEY 37 Missense_Mutation SNP C G uc002mvm.2 Hybrid_Cap... view
MECOM 3 169381200 169381201 KMRC20_KIDNEY 37 5'UTR Ins - T uc011bpj.1 MECOM_uc011bpk.... Hybrid_Cap...
MTOR p.W1304R 1 11264652 11264652 KMRC20_KIDNEY 37 Missense_Mutation SNP A G uc001asd.2 Hybrid_Cap... view
MYLK p.E1066del 3 123419117 123419119 KMRC20_KIDNEY 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
MYST4 p.E1104del 10 76781906 76781908 KMRC20_KIDNEY 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
NCAM1 11 112832307 112832308 KMRC20_KIDNEY 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 KMRC20_KIDNEY 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA1 p.R1029Q 2 24952569 24952569 KMRC20_KIDNEY 37 Missense_Mutation SNP G A uc002rfk.2 NCOA1_uc010eye.... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 KMRC20_KIDNEY 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NPR1 1 153665919 153665920 KMRC20_KIDNEY 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 KMRC20_KIDNEY 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 KMRC20_KIDNEY 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAX3 2 223158653 223158653 KMRC20_KIDNEY 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PHIP 6 79650334 79650334 KMRC20_KIDNEY 37 3'UTR SNP A G uc003pir.2 PHIP_uc003piq.2... Hybrid_Cap... view
PIK3C2G 12 18800990 18800990 KMRC20_KIDNEY 37 3'UTR Del A - rs16914368 uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PLK2 5 57755013 57755013 KMRC20_KIDNEY 37 Intron SNP C A rs79105101 uc003jrn.2 PLK2_uc011cql.1... Hybrid_Cap... view
POLG 15 89859569 89859569 KMRC20_KIDNEY 37 3'UTR SNP A T uc002bns.3 FANCI_uc010bnp.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 KMRC20_KIDNEY 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTK6 20 62164158 62164158 KMRC20_KIDNEY 37 Intron SNP A G uc002yfg.2 PTK6_uc011aay.1... Hybrid_Cap... view
PTPN22 1 114357391 114357391 KMRC20_KIDNEY 37 3'UTR SNP T C uc001eds.2 RSBN1_uc001edq.... Hybrid_Cap... view
RAPGEF2 4 160189224 160189224 KMRC20_KIDNEY 37 5'UTR SNP A T uc003iqg.3 Hybrid_Cap... view
RASGRF1 15 79277150 79277151 KMRC20_KIDNEY 37 Intron Ins - C rs67045840;rs77640668 uc002beq.2 RASGRF1_uc002be... Hybrid_Cap...
RHEB p.Y35del 7 151188048 151188050 KMRC20_KIDNEY 37 In_Frame_Del Del GTA - uc003wkh.1 Hybrid_Cap...
RICTOR p.A976D 5 38952498 38952498 KMRC20_KIDNEY 37 Missense_Mutation SNP G T uc003jlo.2 RICTOR_uc003jlp... Hybrid_Cap... view
ROBO2 3 77666937 77666937 KMRC20_KIDNEY 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
RPS6KA5 14 91360733 91360734 KMRC20_KIDNEY 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPTOR 17 78519274 78519275 KMRC20_KIDNEY 37 5'UTR Del TT - uc002jyt.1 RPTOR_uc002jys.... Hybrid_Cap...
SERPINA12 p.V36F 14 94964629 94964629 KMRC20_KIDNEY 37 Missense_Mutation SNP C A uc001ydj.2 Hybrid_Cap... view
SMURF2 p.L67_splice 17 62589693 62589693 KMRC20_KIDNEY 37 Splice_Site_SNP SNP T A uc002jep.1 SMURF2_uc002jeq... Hybrid_Cap... view
SSU72 1 1477324 1477325 KMRC20_KIDNEY 37 3'UTR Del CA - rs72502747 uc001agd.2 C1orf70_uc009vk... Hybrid_Cap...
STK25 2 242435659 242435662 KMRC20_KIDNEY 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 KMRC20_KIDNEY 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STK38 p.Q190fs 6 36483214 36483214 KMRC20_KIDNEY 37 Frame_Shift_Del Del C - uc003omg.2 STK38_uc003omh.... Hybrid_Cap...
TACC3 4 1739519 1739527 KMRC20_KIDNEY 37 Intron Del GCCAT... - rs114226356 uc003gdo.2 TACC3_uc010ibz.... Hybrid_Cap...
TCERG1L 10 132891407 132891407 KMRC20_KIDNEY 37 3'UTR SNP T C uc001lkp.2 Hybrid_Cap... view
TEC 4 48139307 48139310 KMRC20_KIDNEY 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TGFB1 p.I300V 19 41838149 41838149 KMRC20_KIDNEY 37 Missense_Mutation SNP T C uc002oqh.1 CYP2F1_uc010xvw... Hybrid_Cap... view
TGFB2 1 218519928 218519929 KMRC20_KIDNEY 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TLK1 2 171850178 171850179 KMRC20_KIDNEY 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TP53 p.E224_splice 17 7578176 7578176 KMRC20_KIDNEY 37 Splice_Site_SNP SNP C A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 KMRC20_KIDNEY 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TPR p.L1033F 1 186314826 186314826 KMRC20_KIDNEY 37 Missense_Mutation SNP T A uc001grv.2 Hybrid_Cap... view
TRPM7 p.V496I 15 50911950 50911950 KMRC20_KIDNEY 37 Missense_Mutation SNP C T uc001zyt.3 TRPM7_uc010bew.... Hybrid_Cap... view
TTN 2 179391639 179391640 KMRC20_KIDNEY 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 KMRC20_KIDNEY 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WNT1 p.E343Q 12 49375337 49375337 KMRC20_KIDNEY 37 Missense_Mutation SNP G C uc001rsu.2 Hybrid_Cap... view