Annotation Summary for Cell Line: ACHN  

Cell line primary name: ACHN
Cell line aliases:
Gender: M
Site Primary: kidney
Histology: carcinoma
Hist Subtype1: renal_cell_carcinoma
Notes:
Source: ATCC
Expression arrays: NIECE_p_NCLE_RNA3_HG-U133_Plus_2_E08_296100
SNP arrays: HONEY_p_NCLE_DNAAffy3_S_GenomeWideSNP_6_B04_293310
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in ACHN

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ADAM28 8 24211994 24211997 ACHN_KIDNEY 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 ACHN_KIDNEY 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK1 4 113347609 113347610 ACHN_KIDNEY 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
BCR 22 23631813 23631814 ACHN_KIDNEY 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BIK 22 43525487 43525487 ACHN_KIDNEY 37 3'UTR SNP T A uc003bdk.2 Hybrid_Cap... view
BMP4 14 54416601 54416602 ACHN_KIDNEY 37 3'UTR Ins - A rs74495140;rs76335800 uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap...
C17ORF37 17 37885640 37885641 ACHN_KIDNEY 37 3'UTR Ins - G rs75811535 uc002hsq.2 Hybrid_Cap...
CABC1 1 227171585 227171585 ACHN_KIDNEY 37 Intron Del T - uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CABC1 1 227171736 227171737 ACHN_KIDNEY 37 Intron Ins - T rs1574184 uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CHRNA5 15 78857913 78857913 ACHN_KIDNEY 37 5'UTR SNP C T rs77293642 uc002bdy.2 CHRNA5_uc002bdz... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 ACHN_KIDNEY 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
DNAH8 6 38952247 38952250 ACHN_KIDNEY 37 Intron Del CACA - uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap...
DYRK1A 21 38884966 38884967 ACHN_KIDNEY 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EPHA6 3 97367230 97367231 ACHN_KIDNEY 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 ACHN_KIDNEY 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 ACHN_KIDNEY 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638222 128638223 ACHN_KIDNEY 37 Intron Ins - T uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNA p.V1731V X 153583217 153583217 ACHN_KIDNEY 37 Silent SNP C T uc004fkk.2 FLNA_uc004fki.2... Hybrid_Cap... view
FLNB p.P631L 3 58092551 58092551 ACHN_KIDNEY 37 Missense_Mutation SNP C T uc010hne.2 FLNB_uc003djj.2... Hybrid_Cap... view
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 ACHN_KIDNEY 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FN1 2 216244182 216244185 ACHN_KIDNEY 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 ACHN_KIDNEY 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 ACHN_KIDNEY 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 ACHN_KIDNEY 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
GUCY2F p.S552G X 108684627 108684627 ACHN_KIDNEY 37 Missense_Mutation SNP T C uc004eod.3 GUCY2F_uc011msq... Hybrid_Cap... view
ILK 11 6630029 6630029 ACHN_KIDNEY 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
IRAK2 3 10283918 10283918 ACHN_KIDNEY 37 3'UTR SNP G A uc003bve.1 Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 ACHN_KIDNEY 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 ACHN_KIDNEY 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KTN1 14 56150991 56150992 ACHN_KIDNEY 37 3'UTR Ins - C uc001xcb.2 KTN1_uc001xce.2... Hybrid_Cap...
LMNA 1 156109095 156109095 ACHN_KIDNEY 37 3'UTR Del A - uc001fni.2 LMNA_uc001fnh.2... Hybrid_Cap...
MAMDC4 p.E487K 9 139750059 139750059 ACHN_KIDNEY 37 Missense_Mutation SNP G A uc004cjs.2 MAMDC4_uc011mej... Hybrid_Cap... view
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 ACHN_KIDNEY 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 ACHN_KIDNEY 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 15 66679649 66679650 ACHN_KIDNEY 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 ACHN_KIDNEY 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 ACHN_KIDNEY 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K3 17 61771187 61771187 ACHN_KIDNEY 37 3'UTR SNP G C uc002jbe.2 MAP3K3_uc002jbf... Hybrid_Cap... view
MCM3AP p.R1949* 21 47655280 47655280 ACHN_KIDNEY 37 Nonsense_Mutation SNP G A uc002zir.1 MCM3APAS_uc002z... Hybrid_Cap... view
MYH11 p.D1522N 16 15815314 15815314 ACHN_KIDNEY 37 Missense_Mutation SNP C T uc002ddx.2 MYH11_uc002ddv.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 ACHN_KIDNEY 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 ACHN_KIDNEY 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NFIA 1 61921185 61921186 ACHN_KIDNEY 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NOTCH4 p.15_16LL>L 6 32191659 32191661 ACHN_KIDNEY 37 In_Frame_Del Del AGC - uc003obb.2 NOTCH4_uc011dpu... Hybrid_Cap...
NPR1 1 153665919 153665920 ACHN_KIDNEY 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 ACHN_KIDNEY 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAX3 2 223158653 223158653 ACHN_KIDNEY 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.Q1665fs 1 144873963 144873963 ACHN_KIDNEY 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 ACHN_KIDNEY 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PIK3C2G 12 18801112 18801115 ACHN_KIDNEY 37 3'UTR Del TTGT - rs35889592 uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PLK4 p.E30E 4 128803045 128803045 ACHN_KIDNEY 37 Silent SNP G A uc003ifo.2 PLK4_uc011cgs.1... Hybrid_Cap... view
PREX2 p.K635fs 8 68995501 68995501 ACHN_KIDNEY 37 Frame_Shift_Del Del G - uc003xxv.1 PREX2_uc003xxu.... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 ACHN_KIDNEY 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKG1 10 52751071 52751079 ACHN_KIDNEY 37 5'UTR Del GCCGC... - uc001jjm.2 PRKG1_uc010qhp.... Hybrid_Cap...
PRKG1 10 54053756 54053756 ACHN_KIDNEY 37 3'UTR SNP G C uc001jjo.2 PRKG1_uc001jjm.... Hybrid_Cap... view
RBL1 20 35632029 35632029 ACHN_KIDNEY 37 Intron Del A - uc002xgi.2 RBL1_uc010zvt.1... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 ACHN_KIDNEY 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
SGK196 8 42978201 42978201 ACHN_KIDNEY 37 3'UTR Del T - uc003xpw.2 Hybrid_Cap...
SMO p.N608S 7 128851498 128851498 ACHN_KIDNEY 37 Missense_Mutation SNP A G uc003vor.2 SMO_uc003vos.2_... Hybrid_Cap... view
STK31 7 23872024 23872025 ACHN_KIDNEY 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TACC3 4 1739574 1739574 ACHN_KIDNEY 37 Intron SNP G A uc003gdo.2 TACC3_uc010ibz.... Hybrid_Cap... view
TLK1 2 171850178 171850179 ACHN_KIDNEY 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TRIM33 1 114940215 114940216 ACHN_KIDNEY 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TTN 2 179391639 179391640 ACHN_KIDNEY 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 ACHN_KIDNEY 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WRN p.A219fs 8 30925776 30925777 ACHN_KIDNEY 37 Frame_Shift_Ins Ins - G uc003xio.3 Hybrid_Cap...