Annotation Summary for Cell Line: BHY  

Cell line primary name: BHY
Cell line aliases:
Gender: M
Site Primary: upper_aerodigestive_tract
Histology: carcinoma
Hist Subtype1: squamous_cell_carcinoma
Notes:
Source: DSMZ
Expression arrays: BITTS_p_NCLE_RNA12_HG-U133_Plus_2_A08_698824
SNP arrays: CHARY_p_NCLE_DNAAffy9_GenomeWideSNP_6_C02_490356
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in BHY

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ACVR1B 12 52380975 52380978 BHY_UPPER_AEROD... 37 Intron Del AAAC - uc010snn.1 ACVR1B_uc001rzl... Hybrid_Cap...
ADAM28 8 24211994 24211997 BHY_UPPER_AEROD... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADCK1 p.I406T 14 78397871 78397871 BHY_UPPER_AEROD... 37 Missense_Mutation SNP T C uc001xui.2 ADCK1_uc001xuj.... Hybrid_Cap... view
ADRBK2 p.E360K 22 26091099 26091099 BHY_UPPER_AEROD... 37 Missense_Mutation SNP G A uc003abx.3 ADRBK2_uc010gux... Hybrid_Cap... view
ARHGAP29 p.S446G 1 94655585 94655585 BHY_UPPER_AEROD... 37 Missense_Mutation SNP T C uc001dqj.3 ARHGAP29_uc009w... Hybrid_Cap... view
ATIC p.L244F 2 216197148 216197148 BHY_UPPER_AEROD... 37 Missense_Mutation SNP G C uc002vex.3 ATIC_uc010zjo.1... Hybrid_Cap... view
AURKC 19 57742494 57742507 BHY_UPPER_AEROD... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
AXIN2 17 63526072 63526072 BHY_UPPER_AEROD... 37 3'UTR SNP C G uc002jfi.2 AXIN2_uc002jfh.... Hybrid_Cap... view
BLM 15 91303326 91303326 BHY_UPPER_AEROD... 37 Intron Del T - uc002bpr.2 BLM_uc010uqh.1_... Hybrid_Cap...
BRSK1 p.P604Q 19 55816734 55816734 BHY_UPPER_AEROD... 37 Missense_Mutation SNP C A uc002qkf.2 BRSK1_uc002qkg.... Hybrid_Cap... view
CACNB2 10 18828721 18828722 BHY_UPPER_AEROD... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CASP1 p.T395R 11 104897016 104897016 BHY_UPPER_AEROD... 37 Missense_Mutation SNP G C uc010rve.1 CASP1_uc001pig.... Hybrid_Cap... view
CD40 20 44751647 44751647 BHY_UPPER_AEROD... 37 Intron SNP C T uc002xrg.1 CD40_uc002xrf.1... Hybrid_Cap... view
CHEK2 p.R564Q 22 29083955 29083955 BHY_UPPER_AEROD... 37 Missense_Mutation SNP C T uc003adt.1 CHEK2_uc003ads.... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 BHY_UPPER_AEROD... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CSF1R 5 149433400 149433401 BHY_UPPER_AEROD... 37 3'UTR Ins - C rs66970099;rs78449650 uc003lrl.2 CSF1R_uc011dcd.... Hybrid_Cap...
CSK p.A24A 15 75091012 75091012 BHY_UPPER_AEROD... 37 Silent SNP C T rs55904036 uc010bkb.1 CSK_uc010bka.2_... Hybrid_Cap... view
CSMD3 p.K3381fs 8 113259328 113259328 BHY_UPPER_AEROD... 37 Frame_Shift_Del Del T - uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap...
CSPP1 p.P549L 8 68030542 68030542 BHY_UPPER_AEROD... 37 Missense_Mutation SNP C T uc003xxi.2 CSPP1_uc003xxg.... Hybrid_Cap... view
DST p.I3272V 6 56417419 56417419 BHY_UPPER_AEROD... 37 Missense_Mutation SNP T C uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DYRK1A 21 38884966 38884967 BHY_UPPER_AEROD... 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EDN1 6 12290729 12290729 BHY_UPPER_AEROD... 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EGF p.E1134fs 4 110932389 110932390 BHY_UPPER_AEROD... 37 Frame_Shift_Ins Ins - C rs11569144 uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap...
EPHA5 4 66197592 66197592 BHY_UPPER_AEROD... 37 Intron SNP G A uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 BHY_UPPER_AEROD... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHB6 p.P488P 7 142564240 142564240 BHY_UPPER_AEROD... 37 Silent SNP C T uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap... view
ETV1 p.Q52E 7 14026290 14026290 BHY_UPPER_AEROD... 37 Missense_Mutation SNP G C uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap... view
ETV1 7 14028708 14028708 BHY_UPPER_AEROD... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
EXT1 8 118811869 118811869 BHY_UPPER_AEROD... 37 3'UTR SNP G C uc003yok.1 Hybrid_Cap... view
FASN p.E2129* 17 80039498 80039498 BHY_UPPER_AEROD... 37 Nonsense_Mutation SNP C A uc002kdu.2 FASN_uc002kdv.1... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 BHY_UPPER_AEROD... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 BHY_UPPER_AEROD... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLNA p.R2003H X 153581678 153581678 BHY_UPPER_AEROD... 37 Missense_Mutation SNP C T uc004fkk.2 FLNA_uc004fki.2... Hybrid_Cap... view
FMN2 p.C773* 1 240370419 240370419 BHY_UPPER_AEROD... 37 Nonsense_Mutation SNP C A uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap... view
FN1 p.I1961N 2 216241226 216241226 BHY_UPPER_AEROD... 37 Missense_Mutation SNP A T uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 BHY_UPPER_AEROD... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 BHY_UPPER_AEROD... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 BHY_UPPER_AEROD... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HDAC6 X 48661251 48661251 BHY_UPPER_AEROD... 37 Intron SNP A T uc011mmi.1 HDAC6_uc004dkr.... Hybrid_Cap... view
HIF1A 14 62213929 62213930 BHY_UPPER_AEROD... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 BHY_UPPER_AEROD... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 BHY_UPPER_AEROD... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
IL17RD p.K72K 3 57148814 57148814 BHY_UPPER_AEROD... 37 Silent SNP C T uc003dil.2 IL17RD_uc003dik... Hybrid_Cap... view
ILK 11 6630029 6630029 BHY_UPPER_AEROD... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGB8 p.N474K 7 20441484 20441484 BHY_UPPER_AEROD... 37 Missense_Mutation SNP C A uc003suu.2 ITGB8_uc011jyh.... Hybrid_Cap... view
ITGB8 7 20449664 20449664 BHY_UPPER_AEROD... 37 3'UTR SNP A G uc003suu.2 ITGB8_uc011jyh.... Hybrid_Cap... view
ITPR1 p.R793P 3 4714993 4714993 BHY_UPPER_AEROD... 37 Missense_Mutation SNP G C uc003bqa.2 ITPR1_uc010hca.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 BHY_UPPER_AEROD... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KALRN p.A915D 3 124149543 124149543 BHY_UPPER_AEROD... 37 Missense_Mutation SNP C A uc003ehg.2 KALRN_uc010hrv.... Hybrid_Cap... view
KIAA2022 p.G670V X 73962383 73962383 BHY_UPPER_AEROD... 37 Missense_Mutation SNP C A uc004eby.2 Hybrid_Cap... view
KLK7 19 51480672 51480675 BHY_UPPER_AEROD... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LATS2 13 21620222 21620223 BHY_UPPER_AEROD... 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
LCP1 13 46718669 46718669 BHY_UPPER_AEROD... 37 Intron SNP G T uc001vaz.3 LCP1_uc010ack.2... Hybrid_Cap... view
MAF 16 79628537 79628537 BHY_UPPER_AEROD... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAK p.A185T 6 10804063 10804063 BHY_UPPER_AEROD... 37 Missense_Mutation SNP C T uc003mzl.2 SYCP2L_uc011dim... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 BHY_UPPER_AEROD... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 BHY_UPPER_AEROD... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K14 p.D60D 17 43367932 43367932 BHY_UPPER_AEROD... 37 Silent SNP G A uc002iiw.1 MAP3K14_uc002ii... Hybrid_Cap... view
MAPK14 6 36076345 36076354 BHY_UPPER_AEROD... 37 3'UTR Del GTGTG... - rs80147786 uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MCM4 p.T366I 8 48879968 48879968 BHY_UPPER_AEROD... 37 Missense_Mutation SNP C T uc003xqk.1 MCM4_uc003xql.1... Hybrid_Cap... view
MKNK1 p.R32Q 1 47048941 47048941 BHY_UPPER_AEROD... 37 Missense_Mutation SNP C T uc001cqb.2 MKNK1_uc010omd.... Hybrid_Cap... view
MYH11 16 15802687 15802687 BHY_UPPER_AEROD... 37 Intron Del G - rs111588143 uc002ddx.2 MYH11_uc002ddv.... Hybrid_Cap...
MYLK p.E1066del 3 123419117 123419119 BHY_UPPER_AEROD... 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
MYST4 p.E1368del 10 76788645 76788647 BHY_UPPER_AEROD... 37 In_Frame_Del Del GAG - uc001jwn.1 MYST4_uc001jwo.... Hybrid_Cap...
NCAM1 11 112832307 112832308 BHY_UPPER_AEROD... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 BHY_UPPER_AEROD... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 BHY_UPPER_AEROD... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NPM1 5 170837734 170837734 BHY_UPPER_AEROD... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 BHY_UPPER_AEROD... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPRL2 3 50384978 50384978 BHY_UPPER_AEROD... 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 BHY_UPPER_AEROD... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NTRK2 p.L584F 9 87549195 87549195 BHY_UPPER_AEROD... 37 Missense_Mutation SNP G C uc004anz.1 NTRK2_uc004any.... Hybrid_Cap... view
OBSCN p.L5536P 1 228524774 228524774 BHY_UPPER_AEROD... 37 Missense_Mutation SNP T C uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
OBSCN p.P6118S 1 228538577 228538577 BHY_UPPER_AEROD... 37 Missense_Mutation SNP C T uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
PAX3 2 223158653 223158653 BHY_UPPER_AEROD... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.L601fs 1 144915624 144915624 BHY_UPPER_AEROD... 37 Frame_Shift_Del Del G - rs1778112 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.E243fs 1 144923729 144923729 BHY_UPPER_AEROD... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PIK3C2A 11 17111198 17111199 BHY_UPPER_AEROD... 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 BHY_UPPER_AEROD... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 BHY_UPPER_AEROD... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RASA3 p.V152I 13 114793399 114793399 BHY_UPPER_AEROD... 37 Missense_Mutation SNP C T uc001vui.2 RASA3_uc010tkk.... Hybrid_Cap... view
RASGRF1 15 79277150 79277151 BHY_UPPER_AEROD... 37 Intron Ins - C rs67045840;rs77640668 uc002beq.2 RASGRF1_uc002be... Hybrid_Cap...
ROBO2 3 77666937 77666937 BHY_UPPER_AEROD... 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
ROS1 p.T210A 6 117718229 117718229 BHY_UPPER_AEROD... 37 Missense_Mutation SNP T C uc003pxp.1 ROS1_uc011ebi.1... Hybrid_Cap... view
RPS6KA2 p.E531Q 6 166844006 166844006 BHY_UPPER_AEROD... 37 Missense_Mutation SNP C G uc003qvd.1 RPS6KA2_uc011eg... Hybrid_Cap... view
RPS6KL1 14 75373626 75373627 BHY_UPPER_AEROD... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
RRM2 p.R78C 2 10263571 10263571 BHY_UPPER_AEROD... 37 Missense_Mutation SNP C T uc002rah.2 Hybrid_Cap... view
SLK p.E74K 10 105750502 105750502 BHY_UPPER_AEROD... 37 Missense_Mutation SNP G A uc001kxo.1 SLK_uc001kxp.1_... Hybrid_Cap... view
SMURF2 p.N292S 17 62568057 62568057 BHY_UPPER_AEROD... 37 Missense_Mutation SNP T C uc002jep.1 SMURF2_uc002jeq... Hybrid_Cap... view
STAT5A 17 40461512 40461512 BHY_UPPER_AEROD... 37 Intron SNP G A uc002hzj.1 STAT5A_uc010cya... Hybrid_Cap... view
STK31 7 23872024 23872025 BHY_UPPER_AEROD... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TAF1L 9 32630062 32630062 BHY_UPPER_AEROD... 37 3'UTR Del C - uc003zrg.1 Hybrid_Cap...
TCF3 p.P654T 19 1611723 1611723 BHY_UPPER_AEROD... 37 Missense_Mutation SNP G T rs7252811 uc002ltq.2 TCF3_uc002ltn.2... Hybrid_Cap... view
TLE1 9 84202844 84202845 BHY_UPPER_AEROD... 37 Intron Ins - CATCCC uc004alz.2 TLE1_uc004aly.2... Hybrid_Cap...
TRIM33 1 114940212 114940212 BHY_UPPER_AEROD... 37 3'UTR Del T - uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRIM33 p.C805Y 1 114949567 114949567 BHY_UPPER_AEROD... 37 Missense_Mutation SNP C T uc001eew.2 TRIM33_uc010owr... Hybrid_Cap... view
TRPS1 8 116635872 116635873 BHY_UPPER_AEROD... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN 2 179391639 179391640 BHY_UPPER_AEROD... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TWF1 p.G157V 12 44194248 44194248 BHY_UPPER_AEROD... 37 Missense_Mutation SNP C A uc001rob.2 TWF1_uc001rnz.2... Hybrid_Cap... view
USP6 p.R895C 17 5058756 5058756 BHY_UPPER_AEROD... 37 Missense_Mutation SNP C T uc002gau.1 USP6_uc002gav.1... Hybrid_Cap... view
VEGFA p.V347I 6 43748545 43748545 BHY_UPPER_AEROD... 37 Missense_Mutation SNP G A uc003owh.2 VEGFA_uc003owd.... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 BHY_UPPER_AEROD... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VRK3 p.SCSPQKT127del 19 50510972 50510992 BHY_UPPER_AEROD... 37 In_Frame_Del Del CTGGT... - rs117711287;rs117077533 uc002prg.2 VRK3_uc002prh.1... Hybrid_Cap...
WEE1 p.G221V 11 9597520 9597521 BHY_UPPER_AEROD... 37 Missense_Mutation DNP GA TT uc001mhs.2 WEE1_uc001mht.2... Hybrid_Cap...
WEE2 p.E50K 7 141408706 141408706 BHY_UPPER_AEROD... 37 Missense_Mutation SNP G A uc003vwn.2 FLJ40852_uc011k... Hybrid_Cap... view
YAP1 p.G467A 11 102100556 102100556 BHY_UPPER_AEROD... 37 Missense_Mutation SNP G C uc001pgt.2 YAP1_uc001pgs.2... Hybrid_Cap... view