Annotation Summary for Cell Line: HSC-3  

Cell line primary name: HSC-3
Cell line aliases:
Gender: M
Site Primary: upper_aerodigestive_tract
Histology: carcinoma
Hist Subtype1: squamous_cell_carcinoma
Notes:
Source: HSRRB
Expression arrays: BUNDS_p_NCLE_RNA5_HG-U133_Plus_2_G03_419808
SNP arrays: PODIA_p_NCLE_DNAAffy7_GenomeWideSNP_6_G02_437430
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in HSC-3

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 HSC3_UPPER_AERO... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABL1 p.V390I 9 133750280 133750280 HSC3_UPPER_AERO... 37 Missense_Mutation SNP G A uc004bzv.2 ABL1_uc004bzw.2... Hybrid_Cap... view
ADAM28 8 24211994 24211997 HSC3_UPPER_AERO... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ASPH p.A264_splice 8 62550924 62550925 HSC3_UPPER_AERO... 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
ASPSCR1 p.A95S 17 79943392 79943392 HSC3_UPPER_AERO... 37 Missense_Mutation SNP G T uc002kcy.2 ASPSCR1_uc002kc... Hybrid_Cap... view
AURKC 19 57742494 57742507 HSC3_UPPER_AERO... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BMP4 14 54416602 54416602 HSC3_UPPER_AERO... 37 3'UTR Del T - rs76335800 uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap...
BRSK2 11 1480538 1480538 HSC3_UPPER_AERO... 37 Intron SNP G A uc001ltm.2 BRSK2_uc001lth.... Hybrid_Cap... view
CACNB2 10 18828721 18828722 HSC3_UPPER_AERO... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CASP8 p.Q448* 2 202149901 202149901 HSC3_UPPER_AERO... 37 Nonsense_Mutation SNP C T uc002uxt.1 CASP8_uc002uxp.... Hybrid_Cap... view
CDK11B 1 1654066 1654068 HSC3_UPPER_AERO... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDKN2A 9 21971000 21971000 HSC3_UPPER_AERO... 37 3'UTR SNP C A uc003zpl.2 MTAP_uc003zpi.1... Hybrid_Cap... view
CHD8 p.R1529Q 14 21862612 21862612 HSC3_UPPER_AERO... 37 Missense_Mutation SNP C T uc001was.1 CHD8_uc001war.1... Hybrid_Cap... view
CHRNA5 15 78885615 78885616 HSC3_UPPER_AERO... 37 3'UTR Ins - TA rs72534078 uc002bdy.2 CHRNA3_uc002bea... Hybrid_Cap...
CHUK p.M507V 10 101961895 101961895 HSC3_UPPER_AERO... 37 Missense_Mutation SNP T C uc001kqp.2 Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 HSC3_UPPER_AERO... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 p.V335L 22 19222196 19222197 HSC3_UPPER_AERO... 37 Missense_Mutation DNP CA AT uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CTBP2 p.K974fs 10 126678123 126678123 HSC3_UPPER_AERO... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
DACH1 13 72014625 72014626 HSC3_UPPER_AERO... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DDR2 1 162750211 162750212 HSC3_UPPER_AERO... 37 3'UTR Del TT - uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap...
DYRK1A 21 38884966 38884967 HSC3_UPPER_AERO... 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
ETV1 7 14028708 14028708 HSC3_UPPER_AERO... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 HSC3_UPPER_AERO... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FIGF X 15402140 15402140 HSC3_UPPER_AERO... 37 5'UTR SNP G A uc004cwt.1 Hybrid_Cap... view
GAK p.N183T 4 891924 891924 HSC3_UPPER_AERO... 37 Missense_Mutation SNP T G uc003gbm.3 GAK_uc003gbn.3_... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 HSC3_UPPER_AERO... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 HSC3_UPPER_AERO... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 HSC3_UPPER_AERO... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HECW1 p.F733L 7 43484970 43484970 HSC3_UPPER_AERO... 37 Missense_Mutation SNP C G uc003tid.1 HECW1_uc011kbi.... Hybrid_Cap... view
HIF1A 14 62213929 62213930 HSC3_UPPER_AERO... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HIPK1 p.Q1108E 1 114515823 114515823 HSC3_UPPER_AERO... 37 Missense_Mutation SNP C G uc001eem.2 HIPK1_uc001een.... Hybrid_Cap... view
HMMR 5 162918277 162918277 HSC3_UPPER_AERO... 37 3'UTR Del T - uc003lzh.2 HMMR_uc003lzf.2... Hybrid_Cap...
HNF1A 12 121434630 121434631 HSC3_UPPER_AERO... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 HSC3_UPPER_AERO... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
ILK 11 6630029 6630029 HSC3_UPPER_AERO... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 HSC3_UPPER_AERO... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 HSC3_UPPER_AERO... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LATS2 p.L699V 13 21557750 21557750 HSC3_UPPER_AERO... 37 Missense_Mutation SNP G C uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap... view
LATS2 13 21620222 21620223 HSC3_UPPER_AERO... 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
LRGUK p.S266_splice 7 133848148 133848148 HSC3_UPPER_AERO... 37 Splice_Site_SNP SNP G C uc003vrm.1 Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 HSC3_UPPER_AERO... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 p.Q354H 15 66782095 66782095 HSC3_UPPER_AERO... 37 Missense_Mutation SNP A C uc010bhq.2 MAP2K1_uc010ujp... Hybrid_Cap... view
MAPK14 6 36076345 36076354 HSC3_UPPER_AERO... 37 3'UTR Del GTGTG... - rs80147786 uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MAPK8 p.D103H 10 49617976 49617976 HSC3_UPPER_AERO... 37 Missense_Mutation SNP G C uc009xnz.2 MAPK8_uc001jgl.... Hybrid_Cap... view
MLLT10 p.R688C 10 22016808 22016808 HSC3_UPPER_AERO... 37 Missense_Mutation SNP C T uc001iqs.2 MLLT10_uc001iqt... Hybrid_Cap... view
MLLT6 17 36881873 36881873 HSC3_UPPER_AERO... 37 3'UTR Del C - uc002hqi.3 MLLT6_uc002hqk.... Hybrid_Cap...
MYH10 p.R1129_splice 17 8408225 8408225 HSC3_UPPER_AERO... 37 Splice_Site_SNP SNP C T uc002glm.2 MYH10_uc002gll.... Hybrid_Cap... view
MYLK p.E1066del 3 123419117 123419119 HSC3_UPPER_AERO... 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
MYST4 p.E1104del 10 76781906 76781908 HSC3_UPPER_AERO... 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
NCAM1 11 112832307 112832308 HSC3_UPPER_AERO... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 HSC3_UPPER_AERO... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.1276_1277insQ 20 46279860 46279861 HSC3_UPPER_AERO... 37 In_Frame_Ins Ins - CAA uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 HSC3_UPPER_AERO... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61869770 61869770 HSC3_UPPER_AERO... 37 Intron SNP C T uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap... view
NFKB1 p.D917_splice 4 103534740 103534741 HSC3_UPPER_AERO... 37 Splice_Site_Ins Ins - A rs35795162 uc011cep.1 NFKB1_uc011ceq.... Hybrid_Cap...
NPR1 1 153665919 153665920 HSC3_UPPER_AERO... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPRL2 3 50384978 50384978 HSC3_UPPER_AERO... 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 HSC3_UPPER_AERO... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAX3 2 223066017 223066018 HSC3_UPPER_AERO... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 HSC3_UPPER_AERO... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PCDH15 10 55581490 55581491 HSC3_UPPER_AERO... 37 3'UTR Ins - A uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap...
PCDH15 p.E834Q 10 55782693 55782693 HSC3_UPPER_AERO... 37 Missense_Mutation SNP C G uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap... view
PDE4DIP p.Q1665fs 1 144873963 144873963 HSC3_UPPER_AERO... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP 1 144931585 144931585 HSC3_UPPER_AERO... 37 Intron SNP G A uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDGFRA 4 55131002 55131002 HSC3_UPPER_AERO... 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PGGT1B 5 114548071 114548072 HSC3_UPPER_AERO... 37 3'UTR Ins - C uc003kqw.3 PGGT1B_uc003kqx... Hybrid_Cap...
PIK3C2A 11 17111198 17111199 HSC3_UPPER_AERO... 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PIK3R1 5 67584340 67584341 HSC3_UPPER_AERO... 37 Intron Ins - CGAGC rs72310992 uc003jva.2 PIK3R1_uc003jvb... Hybrid_Cap...
PKN2 p.M40R 1 89206741 89206741 HSC3_UPPER_AERO... 37 Missense_Mutation SNP T G uc001dmn.2 PKN2_uc001dmm.1... Hybrid_Cap... view
PKN2 p.Q415E 1 89251858 89251858 HSC3_UPPER_AERO... 37 Missense_Mutation SNP C G uc001dmn.2 PKN2_uc001dmm.1... Hybrid_Cap... view
PMS1 2 190670539 190670540 HSC3_UPPER_AERO... 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
POU5F1B p.R230* 8 128428799 128428799 HSC3_UPPER_AERO... 37 Nonsense_Mutation SNP C T uc003ysf.2 LOC727677_uc003... Hybrid_Cap... view
PRKCA 17 64298959 64298960 HSC3_UPPER_AERO... 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 HSC3_UPPER_AERO... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PSEN1 14 73686208 73686208 HSC3_UPPER_AERO... 37 3'UTR SNP G A uc001xnr.2 PSEN1_uc001xnv.... Hybrid_Cap... view
RAPGEF2 4 160189200 160189201 HSC3_UPPER_AERO... 37 5'UTR Ins - T rs72011511 uc003iqg.3 Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 HSC3_UPPER_AERO... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RECQL4 p.P441S 8 145740779 145740779 HSC3_UPPER_AERO... 37 Missense_Mutation SNP G A uc003zdj.2 LRRC14_uc003zdk... Hybrid_Cap... view
ROR1 p.E604K 1 64643534 64643534 HSC3_UPPER_AERO... 37 Missense_Mutation SNP G A uc001dbj.2 Hybrid_Cap... view
RPS6KB1 17 58024224 58024225 HSC3_UPPER_AERO... 37 3'UTR Ins - AA rs67846207 uc002ixy.2 RPS6KB1_uc010dd... Hybrid_Cap...
RYK p.T424M 3 133896820 133896820 HSC3_UPPER_AERO... 37 Missense_Mutation SNP G A uc003eqc.1 RYK_uc003eqd.1_... Hybrid_Cap... view
SLC6A8 X 152957656 152957657 HSC3_UPPER_AERO... 37 Intron Ins - A uc004fib.3 SLC6A8_uc004fic... Hybrid_Cap...
SMAD4 p.H132Y 18 48575200 48575200 HSC3_UPPER_AERO... 37 Missense_Mutation SNP C T uc010xdp.1 SMAD4_uc010xdo.... Hybrid_Cap... view
STK31 7 23872024 23872025 HSC3_UPPER_AERO... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TEK 9 27229465 27229465 HSC3_UPPER_AERO... 37 3'UTR SNP G A uc003zqi.3 TEK_uc011lno.1_... Hybrid_Cap... view
TLX1 p.E265D 10 102896472 102896472 HSC3_UPPER_AERO... 37 Missense_Mutation SNP G T uc001ksw.2 Hybrid_Cap... view
TMEM123 11 102269398 102269398 HSC3_UPPER_AERO... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNN p.L1221R 1 175113589 175113589 HSC3_UPPER_AERO... 37 Missense_Mutation SNP T G uc001gkl.1 Hybrid_Cap... view
TP53 p.K305fs 17 7577022 7577023 HSC3_UPPER_AERO... 37 Frame_Shift_Ins Ins - CTTA uc002gim.2 TP53_uc002gig.1... Hybrid_Cap...
TP63 3 189507518 189507519 HSC3_UPPER_AERO... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIM33 1 114940212 114940212 HSC3_UPPER_AERO... 37 3'UTR Del T - uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRPS1 8 116635872 116635873 HSC3_UPPER_AERO... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN 2 179391639 179391640 HSC3_UPPER_AERO... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.R18738H 2 179452021 179452021 HSC3_UPPER_AERO... 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TYK2 p.V164M 19 10477232 10477232 HSC3_UPPER_AERO... 37 Missense_Mutation SNP C T uc002moc.3 TYK2_uc010dxe.2... Hybrid_Cap... view
URB2 p.A1107S 1 229773679 229773679 HSC3_UPPER_AERO... 37 Missense_Mutation SNP G T uc001hts.1 URB2_uc009xfd.1... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 HSC3_UPPER_AERO... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
XPO5 p.R967* 6 43495393 43495393 HSC3_UPPER_AERO... 37 Nonsense_Mutation SNP G A uc003ovp.2 POLR1C_uc003ovo... Hybrid_Cap... view
YSK4 p.I1123T 2 135738943 135738943 HSC3_UPPER_AERO... 37 Missense_Mutation SNP A G uc002tue.1 YSK4_uc002tuf.1... Hybrid_Cap... view
YSK4 p.L980P 2 135743503 135743503 HSC3_UPPER_AERO... 37 Missense_Mutation SNP A G uc002tue.1 YSK4_uc002tuf.1... Hybrid_Cap... view