Annotation Summary for Cell Line: HSC-4  

Cell line primary name: HSC-4
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_G04_419802
SNP arrays: SKATS_p_NCLE_DNAAffy13_GenomeWideSNP_6_D02_592876
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in HSC-4

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 HSC4_UPPER_AERO... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 HSC4_UPPER_AERO... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 HSC4_UPPER_AERO... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ARHGEF7 p.M1I 13 111767876 111767876 HSC4_UPPER_AERO... 37 Missense_Mutation SNP G A uc001vrs.2 ARHGEF7_uc001vr... Hybrid_Cap... view
ARNT p.P706L 1 150785811 150785811 HSC4_UPPER_AERO... 37 Missense_Mutation SNP G A rs2275237 uc001evr.1 ARNT_uc010pck.1... Hybrid_Cap... view
ATP13A5 p.P582A 3 193040294 193040294 HSC4_UPPER_AERO... 37 Missense_Mutation SNP G C uc011bsq.1 Hybrid_Cap... view
BUB1B 15 40512978 40512978 HSC4_UPPER_AERO... 37 3'UTR SNP C T uc001zkx.3 PAK6_uc010bbl.2... Hybrid_Cap... view
CCND1 p.E122K 11 69457964 69457964 HSC4_UPPER_AERO... 37 Missense_Mutation SNP G A uc001opa.2 Hybrid_Cap... view
CCND2 p.L174V 12 4388034 4388034 HSC4_UPPER_AERO... 37 Missense_Mutation SNP C G uc001qmo.2 Hybrid_Cap... view
CDC73 p.G464V 1 193205460 193205460 HSC4_UPPER_AERO... 37 Missense_Mutation SNP G T uc001gtb.2 Hybrid_Cap... view
CDH2 p.R697S 18 25565084 25565084 HSC4_UPPER_AERO... 37 Missense_Mutation SNP G T uc002kwg.2 CDH2_uc010xbn.1... Hybrid_Cap... view
CDK11B 1 1654066 1654068 HSC4_UPPER_AERO... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDKN2A p.P135L 9 21971120 21971120 HSC4_UPPER_AERO... 37 Missense_Mutation SNP G A uc003zpl.2 MTAP_uc003zpi.1... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 HSC4_UPPER_AERO... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CTNNB1 p.D412H 3 41275068 41275068 HSC4_UPPER_AERO... 37 Missense_Mutation SNP G C uc010hia.1 CTNNB1_uc003ckp... Hybrid_Cap... view
DFNA5 7 24738502 24738502 HSC4_UPPER_AERO... 37 3'UTR SNP T A uc010kus.1 DFNA5_uc003swz.... Hybrid_Cap... view
DST p.M5077V 6 56342232 56342232 HSC4_UPPER_AERO... 37 Missense_Mutation SNP T C uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
EHBP1 p.E975Q 2 63217952 63217952 HSC4_UPPER_AERO... 37 Missense_Mutation SNP G C uc002sby.2 EHBP1_uc010fcp.... Hybrid_Cap... view
EIF2AK4 p.C521R 15 40265116 40265116 HSC4_UPPER_AERO... 37 Missense_Mutation SNP T C uc001zkm.1 EIF2AK4_uc001zk... Hybrid_Cap... view
EPHA6 3 97367230 97367231 HSC4_UPPER_AERO... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ETV1 7 14028708 14028708 HSC4_UPPER_AERO... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 HSC4_UPPER_AERO... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 HSC4_UPPER_AERO... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 HSC4_UPPER_AERO... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 HSC4_UPPER_AERO... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GLTSCR1 p.E123K 19 48182794 48182794 HSC4_UPPER_AERO... 37 Missense_Mutation SNP G A uc002phh.3 GLTSCR1_uc002ph... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 HSC4_UPPER_AERO... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 HSC4_UPPER_AERO... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C p.V621I 12 14796577 14796577 HSC4_UPPER_AERO... 37 Missense_Mutation SNP C T uc001rcd.2 Hybrid_Cap... view
GUCY2C 12 14827464 14827466 HSC4_UPPER_AERO... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
GUCY2F p.D143Y X 108718739 108718739 HSC4_UPPER_AERO... 37 Missense_Mutation SNP C A uc004eod.3 GUCY2F_uc011msq... Hybrid_Cap... view
HIF1A 14 62213929 62213930 HSC4_UPPER_AERO... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
IL17RD 3 57130403 57130403 HSC4_UPPER_AERO... 37 3'UTR SNP T A uc003dil.2 IL17RD_uc003dik... Hybrid_Cap... view
IL17RD p.A722V 3 57130476 57130476 HSC4_UPPER_AERO... 37 Missense_Mutation SNP G A uc003dil.2 IL17RD_uc003dik... Hybrid_Cap... view
ILK 11 6630029 6630029 HSC4_UPPER_AERO... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGB4 17 73732904 73732904 HSC4_UPPER_AERO... 37 Intron Del C - uc002jpg.2 ITGB4_uc002jph.... Hybrid_Cap...
ITGB8 p.I716M 7 20449362 20449362 HSC4_UPPER_AERO... 37 Missense_Mutation SNP T G uc003suu.2 ITGB8_uc011jyh.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 HSC4_UPPER_AERO... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAG1 20 10619967 10619967 HSC4_UPPER_AERO... 37 3'UTR SNP G A uc002wnw.2 Hybrid_Cap... view
KALRN 3 124207194 124207195 HSC4_UPPER_AERO... 37 Intron Del CT - uc003ehg.2 KALRN_uc010hrv.... Hybrid_Cap...
KLK7 19 51480672 51480675 HSC4_UPPER_AERO... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KSR1 p.S272L 17 25919579 25919579 HSC4_UPPER_AERO... 37 Missense_Mutation SNP C T uc010crg.2 KSR1_uc002gzj.1... Hybrid_Cap... view
KTN1 p.Q875K 14 56119587 56119587 HSC4_UPPER_AERO... 37 Missense_Mutation SNP C A uc001xcb.2 KTN1_uc001xce.2... Hybrid_Cap... view
LATS2 13 21620222 21620223 HSC4_UPPER_AERO... 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
MAF 16 79628537 79628537 HSC4_UPPER_AERO... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 HSC4_UPPER_AERO... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 HSC4_UPPER_AERO... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 HSC4_UPPER_AERO... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MDM2 12 69202831 69202831 HSC4_UPPER_AERO... 37 Intron SNP G T uc001sui.2 MDM2_uc009zri.2... Hybrid_Cap... view
MECOM p.D119H 3 169098995 169098995 HSC4_UPPER_AERO... 37 Missense_Mutation SNP C G uc011bpj.1 MECOM_uc003ffl.... Hybrid_Cap... view
MKNK1 p.R447K 1 47024305 47024305 HSC4_UPPER_AERO... 37 Missense_Mutation SNP C T uc001cqb.2 MKNK1_uc010omd.... Hybrid_Cap... view
MLH1 p.E632K 3 37089172 37089172 HSC4_UPPER_AERO... 37 Missense_Mutation SNP G A uc003cgl.2 MLH1_uc011aye.1... Hybrid_Cap... view
MLL3 p.E510Q 7 151949117 151949117 HSC4_UPPER_AERO... 37 Missense_Mutation SNP C G uc003wla.2 Hybrid_Cap... view
MLLT10 p.S308* 10 21959505 21959505 HSC4_UPPER_AERO... 37 Nonsense_Mutation SNP C G uc001iqs.2 MLLT10_uc001iqt... Hybrid_Cap... view
MYST4 p.E1104del 10 76781906 76781908 HSC4_UPPER_AERO... 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
NCAM1 11 112832307 112832308 HSC4_UPPER_AERO... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 HSC4_UPPER_AERO... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279864 46279866 HSC4_UPPER_AERO... 37 In_Frame_Del Del CAA - rs1132443;rs28529067 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NFIA 1 61921185 61921186 HSC4_UPPER_AERO... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NOS2 p.E174K 17 26110080 26110080 HSC4_UPPER_AERO... 37 Missense_Mutation SNP C T uc002gzu.2 NOS2_uc010crh.1... Hybrid_Cap... view
NOTCH2 p.S2078C 1 120459112 120459112 HSC4_UPPER_AERO... 37 Missense_Mutation SNP G C uc001eik.2 Hybrid_Cap... view
NOTCH4 6 32170465 32170465 HSC4_UPPER_AERO... 37 Intron Del G - uc003obb.2 NOTCH4_uc003oba... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 HSC4_UPPER_AERO... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR3C1 5 142780419 142780419 HSC4_UPPER_AERO... 37 Splice_Site_SNP SNP T A uc003lmy.2 NR3C1_uc003lmz.... Hybrid_Cap... view
NUP214 9 134067556 134067557 HSC4_UPPER_AERO... 37 Intron Ins - T rs66652901 uc004cag.2 NUP214_uc004cah... Hybrid_Cap...
PALB2 p.E837K 16 23640966 23640966 HSC4_UPPER_AERO... 37 Missense_Mutation SNP C T uc002dlx.1 Hybrid_Cap... view
PAX3 2 223066017 223066018 HSC4_UPPER_AERO... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 HSC4_UPPER_AERO... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAXIP1 7 154775066 154775066 HSC4_UPPER_AERO... 37 Intron SNP C T uc003wlp.2 PAXIP1_uc003wlq... Hybrid_Cap... view
PDE4DIP p.R571C 1 144916644 144916644 HSC4_UPPER_AERO... 37 Missense_Mutation SNP G A rs112651497 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDGFRA 4 55131002 55131002 HSC4_UPPER_AERO... 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 HSC4_UPPER_AERO... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PLCB2 p.K1046N 15 40582849 40582849 HSC4_UPPER_AERO... 37 Missense_Mutation SNP C G uc001zld.2 PLCB2_uc001zlc.... Hybrid_Cap... view
PLCG2 p.S931C 16 81968086 81968086 HSC4_UPPER_AERO... 37 Missense_Mutation SNP C G uc002fgt.2 Hybrid_Cap... view
PNMT p.L184W 17 37826344 37826344 HSC4_UPPER_AERO... 37 Missense_Mutation SNP T G uc002hsi.1 Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 HSC4_UPPER_AERO... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTEN p.C136W 10 89692924 89692924 HSC4_UPPER_AERO... 37 Missense_Mutation SNP T G uc001kfb.2 Hybrid_Cap... view
PTEN p.V343_splice 10 89725042 89725042 HSC4_UPPER_AERO... 37 Splice_Site_SNP SNP A T uc001kfb.2 Hybrid_Cap... view
RAD50 p.Q737E 5 131938993 131938993 HSC4_UPPER_AERO... 37 Missense_Mutation SNP C G uc003kxi.2 RAD50_uc003kxh.... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 HSC4_UPPER_AERO... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RPGRIP1 p.S601W 14 21792816 21792816 HSC4_UPPER_AERO... 37 Missense_Mutation SNP C G rs3748360 uc001wag.2 RPGRIP1_uc001wa... Hybrid_Cap... view
RPS6KL1 14 75373626 75373627 HSC4_UPPER_AERO... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
RXRA 9 137313772 137313772 HSC4_UPPER_AERO... 37 Intron SNP C G uc004cfb.2 RXRA_uc004cfc.1... Hybrid_Cap... view
SACS p.A610G 13 23928922 23928922 HSC4_UPPER_AERO... 37 Missense_Mutation SNP G C uc001uon.2 SACS_uc001uoo.2... Hybrid_Cap... view
SCRIB p.G983V 8 144886799 144886799 HSC4_UPPER_AERO... 37 Missense_Mutation SNP C A uc003yzo.1 SCRIB_uc003yzn.... Hybrid_Cap... view
SET 9 131446120 131446120 HSC4_UPPER_AERO... 37 5'UTR SNP T C uc004bvt.3 Hybrid_Cap... view
SLC14A1 p.I55V 18 43310280 43310280 HSC4_UPPER_AERO... 37 Missense_Mutation SNP A G uc010dnk.2 SLC14A1_uc010xc... Hybrid_Cap... view
SMG1 p.S1145L 16 18875383 18875383 HSC4_UPPER_AERO... 37 Missense_Mutation SNP G A uc002dfm.2 SMG1_uc010bwb.2... Hybrid_Cap... view
SRPK1 p.G476E 6 35836872 35836872 HSC4_UPPER_AERO... 37 Missense_Mutation SNP C T uc003olj.2 SRPK1_uc011dtg.... Hybrid_Cap... view
STK25 2 242435659 242435662 HSC4_UPPER_AERO... 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 HSC4_UPPER_AERO... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TAF1 p.D330N X 70597666 70597666 HSC4_UPPER_AERO... 37 Missense_Mutation SNP G A uc004dzt.3 BCYRN1_uc011mpt... Hybrid_Cap... view
TEC 4 48139307 48139310 HSC4_UPPER_AERO... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TLK1 2 171850178 171850179 HSC4_UPPER_AERO... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TP53 p.R248Q 17 7577538 7577538 HSC4_UPPER_AERO... 37 Missense_Mutation SNP C T rs11540652 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TTBK1 p.E771del 6 43250726 43250728 HSC4_UPPER_AERO... 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
TTN p.L19127V 2 179449195 179449195 HSC4_UPPER_AERO... 37 Missense_Mutation SNP G C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.R18441* 2 179453427 179453427 HSC4_UPPER_AERO... 37 Nonsense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TYRO3 15 41853878 41853878 HSC4_UPPER_AERO... 37 Intron SNP C T uc001zof.1 TYRO3_uc001zoe.... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 HSC4_UPPER_AERO... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WRN p.D433G 8 30941243 30941243 HSC4_UPPER_AERO... 37 Missense_Mutation SNP A G uc003xio.3 WRN_uc011lbd.1_... Hybrid_Cap... view
WRN p.D460G 8 30942710 30942710 HSC4_UPPER_AERO... 37 Missense_Mutation SNP A G uc003xio.3 WRN_uc011lbd.1_... Hybrid_Cap... view
ZMYM2 p.D955H 13 20635316 20635316 HSC4_UPPER_AERO... 37 Missense_Mutation SNP G C uc001umr.2 ZMYM2_uc001ums.... Hybrid_Cap... view
ZNF497 p.C192* 19 58868426 58868426 HSC4_UPPER_AERO... 37 Nonsense_Mutation SNP G T uc002qsh.1 A1BG_uc002qsf.1... Hybrid_Cap... view