Annotation Summary for Cell Line: JHH-1  

Cell line primary name: JHH-1
Cell line aliases:
Gender: M
Site Primary: liver
Histology: carcinoma
Hist Subtype1: hepatocellular_carcinoma
Notes:
Source: HSRRB
Expression arrays: BRAKE_p_NCLE_RNA2_HG-U133_Plus_2_C07_241102
SNP arrays: ARLES_p_NCLE_DNAAffy2_S_GenomeWideSNP_6_E01_256098
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in JHH-1

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 JHH1_LIVER 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ACVR1C 2 158390343 158390344 JHH1_LIVER 37 3'UTR Ins - A rs75065337 uc002tzk.3 ACVR1C_uc002tzl... Hybrid_Cap...
ADAM28 8 24211994 24211997 JHH1_LIVER 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 JHH1_LIVER 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK1 4 113347609 113347610 JHH1_LIVER 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
APC p.S2260N 5 112178070 112178070 JHH1_LIVER 37 Missense_Mutation SNP G A uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
ASPH p.A264_splice 8 62550924 62550925 JHH1_LIVER 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
AURKC 19 57742494 57742507 JHH1_LIVER 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BRIP1 p.Q944E 17 59763272 59763272 JHH1_LIVER 37 Missense_Mutation SNP G C uc002izk.1 BRIP1_uc002izl.... Hybrid_Cap... view
BRIP1 p.R439* 17 59876486 59876486 JHH1_LIVER 37 Nonsense_Mutation SNP G A uc002izk.1 Hybrid_Cap... view
CACNB2 10 18828721 18828722 JHH1_LIVER 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CASP1 p.A384G 11 104897049 104897049 JHH1_LIVER 37 Missense_Mutation SNP G C uc010rve.1 CASP1_uc001pig.... Hybrid_Cap... view
CASP4 11 104822780 104822780 JHH1_LIVER 37 Intron SNP C T uc001pid.1 CASP4_uc001pib.... Hybrid_Cap... view
CCNE1 19 30312757 30312757 JHH1_LIVER 37 Intron SNP A G uc002nsn.2 CCNE1_uc002nso.... Hybrid_Cap... view
CDK11B 1 1654066 1654068 JHH1_LIVER 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CHRNA5 15 78885615 78885616 JHH1_LIVER 37 3'UTR Ins - TA rs72534078 uc002bdy.2 CHRNA3_uc002bea... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 JHH1_LIVER 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREBBP p.E1752* 16 3779794 3779794 JHH1_LIVER 37 Nonsense_Mutation SNP C A uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
EIF2AK4 p.V1022M 15 40293330 40293330 JHH1_LIVER 37 Missense_Mutation SNP G A uc001zkm.1 EIF2AK4_uc010bb... Hybrid_Cap... view
EPHA6 3 97367230 97367231 JHH1_LIVER 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHA8 p.R91L 1 22902822 22902822 JHH1_LIVER 37 Missense_Mutation SNP G T uc001bfx.1 EPHA8_uc001bfw.... Hybrid_Cap... view
ETV1 7 14028708 14028708 JHH1_LIVER 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FANCD2 3 10143086 10143087 JHH1_LIVER 37 3'UTR Ins - A uc003bux.1 FANCD2_uc003buy... Hybrid_Cap...
FBN2 p.T2278M 5 127623047 127623047 JHH1_LIVER 37 Missense_Mutation SNP G A rs2307109 uc003kuu.2 Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 JHH1_LIVER 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 JHH1_LIVER 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLT4 5 180035183 180035185 JHH1_LIVER 37 Intron Del AGT - uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap...
FN1 2 216244182 216244185 JHH1_LIVER 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GAS7 p.S335L 17 9829968 9829968 JHH1_LIVER 37 Missense_Mutation SNP G A uc002gmg.1 GAS7_uc010vvc.1... Hybrid_Cap... view
GNAS p.R632H 20 57430215 57430215 JHH1_LIVER 37 Missense_Mutation SNP G A uc002xzw.2 GNAS_uc002xzt.2... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 JHH1_LIVER 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 JHH1_LIVER 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 JHH1_LIVER 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HNF1A 12 121434630 121434631 JHH1_LIVER 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 JHH1_LIVER 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INHBA p.E27V 7 41739893 41739893 JHH1_LIVER 37 Missense_Mutation SNP T A uc003thq.2 LOC285954_uc003... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 JHH1_LIVER 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KDM5A 12 498268 498269 JHH1_LIVER 37 5'UTR Del GG - uc001qif.1 KDM5A_uc001qie.... Hybrid_Cap...
KIAA1409 p.K2028R 14 94121728 94121728 JHH1_LIVER 37 Missense_Mutation SNP A G rs2296687 uc001ybv.1 KIAA1409_uc001y... Hybrid_Cap... view
KLK7 19 51480672 51480675 JHH1_LIVER 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LRP1 p.T2129K 12 57578911 57578911 JHH1_LIVER 37 Missense_Mutation SNP C A uc001snd.2 Hybrid_Cap... view
LRRK2 p.Q116_splice 12 40629427 40629427 JHH1_LIVER 37 Splice_Site_SNP SNP G A uc001rmg.3 Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 JHH1_LIVER 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 JHH1_LIVER 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 JHH1_LIVER 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K4 p.S178L 6 161469837 161469837 JHH1_LIVER 37 Missense_Mutation SNP C T uc003qtn.2 MAP3K4_uc010kkc... Hybrid_Cap... view
MAPK12 p.T301M 22 50693748 50693748 JHH1_LIVER 37 Missense_Mutation SNP G A uc003bkm.1 MAPK12_uc003bkn... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 JHH1_LIVER 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MITF 3 69985860 69985860 JHH1_LIVER 37 Intron SNP C G uc003dnz.2 MITF_uc011bgb.1... Hybrid_Cap... view
MKRN3 p.T367A 15 23812028 23812028 JHH1_LIVER 37 Missense_Mutation SNP A G uc001ywh.3 MKRN3_uc001ywi.... Hybrid_Cap... view
MN1 p.544_546QQQ>Q 22 28194895 28194900 JHH1_LIVER 37 In_Frame_Del Del TGCTG... - rs75719175 uc003adj.2 Hybrid_Cap...
MYH10 17 8526577 8526577 JHH1_LIVER 37 5'UTR SNP G A uc002glm.2 MYH10_uc002gll.... Hybrid_Cap... view
MYLK 3 123332876 123332876 JHH1_LIVER 37 3'UTR Del T - rs115544676 uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap...
MYLK p.I1466I 3 123367835 123367835 JHH1_LIVER 37 Silent SNP A G uc003ego.2 MYLK_uc010hrr.2... Hybrid_Cap... view
MYST4 p.E1104del 10 76781906 76781908 JHH1_LIVER 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
NCAM1 11 112832307 112832308 JHH1_LIVER 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 JHH1_LIVER 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 13 52707138 52707138 JHH1_LIVER 37 3'UTR SNP C T uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 JHH1_LIVER 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NEK4 p.K99T 3 52802418 52802418 JHH1_LIVER 37 Missense_Mutation SNP T G uc003dfq.3 NEK4_uc011bej.1... Hybrid_Cap... view
NOTCH1 p.Y1915C 9 139395194 139395194 JHH1_LIVER 37 Missense_Mutation SNP T C uc004chz.2 Hybrid_Cap... view
NPM1 5 170837734 170837734 JHH1_LIVER 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 JHH1_LIVER 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 JHH1_LIVER 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 JHH1_LIVER 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUP214 9 134067556 134067557 JHH1_LIVER 37 Intron Ins - T rs66652901 uc004cag.2 NUP214_uc004cah... Hybrid_Cap...
PAX3 2 223066017 223066018 JHH1_LIVER 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 JHH1_LIVER 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP 1 144852427 144852427 JHH1_LIVER 37 3'UTR SNP C T uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDE4DIP p.E243fs 1 144923729 144923729 JHH1_LIVER 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDK1 2 173460743 173460743 JHH1_LIVER 37 3'UTR SNP A G rs70937078 uc002uhq.1 PDK1_uc010zdz.1... Hybrid_Cap... view
PDK2 p.S348fs 17 48186724 48186724 JHH1_LIVER 37 Frame_Shift_Del Del C - uc002iqc.2 PDK2_uc002iqb.2... Hybrid_Cap...
PIK3C2G p.K357fs 12 18466932 18466933 JHH1_LIVER 37 Frame_Shift_Del Del AG - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PKHD1 p.A4059V 6 51483928 51483928 JHH1_LIVER 37 Missense_Mutation SNP G A uc003pah.1 Hybrid_Cap... view
PLEKHA5 p.R409Q 12 19427830 19427830 JHH1_LIVER 37 Missense_Mutation SNP G A uc010sie.1 PLEKHA5_uc001re... Hybrid_Cap... view
PRAME p.E169Q 22 22892596 22892596 JHH1_LIVER 37 Missense_Mutation SNP C G uc002zwf.2 LOC96610_uc011a... Hybrid_Cap... view
PRG4 1 186283331 186283332 JHH1_LIVER 37 3'UTR Del AC - uc001gru.3 PRG4_uc001grt.3... Hybrid_Cap...
PRKCA 17 64298959 64298960 JHH1_LIVER 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKD3 p.S822N 2 37481381 37481381 JHH1_LIVER 37 Missense_Mutation SNP C T uc002rqd.2 Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 JHH1_LIVER 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 JHH1_LIVER 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RELA 11 65423023 65423023 JHH1_LIVER 37 Intron SNP G A rs76584376 uc010ron.1 RELA_uc001ofg.2... Hybrid_Cap... view
RHPN2 p.R665Q 19 33470969 33470969 JHH1_LIVER 37 Missense_Mutation SNP C T uc002nuf.2 RHPN2_uc010xro.... Hybrid_Cap... view
ROS1 p.G2293D 6 117609821 117609821 JHH1_LIVER 37 Missense_Mutation SNP C T uc003pxp.1 ROS1_uc011ebi.1... Hybrid_Cap... view
RPS6KL1 14 75373626 75373627 JHH1_LIVER 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SMG1 p.Q2730E 16 18846356 18846356 JHH1_LIVER 37 Missense_Mutation SNP G C rs34960798 uc002dfm.2 SMG1_uc010bwb.2... Hybrid_Cap... view
SSU72 1 1477324 1477325 JHH1_LIVER 37 3'UTR Del CA - rs72502747 uc001agd.2 C1orf70_uc009vk... Hybrid_Cap...
STAT5A 17 40462797 40462800 JHH1_LIVER 37 3'UTR Del TGTG - uc002hzj.1 STAT5A_uc010cya... Hybrid_Cap...
STK31 7 23872024 23872025 JHH1_LIVER 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TAF1 p.D1521Y X 70643015 70643015 JHH1_LIVER 37 Missense_Mutation SNP G T uc004dzt.3 BCYRN1_uc011mpt... Hybrid_Cap... view
TAOK3 12 118588761 118588762 JHH1_LIVER 37 3'UTR Ins - T rs116872184 uc001twx.2 TAOK3_uc001twv.... Hybrid_Cap...
TET2 p.Q620R 4 106156895 106156895 JHH1_LIVER 37 Missense_Mutation SNP A G uc011cez.1 TET2_uc003hxk.2... Hybrid_Cap... view
TGFBR1 p.D363H 9 101907127 101907127 JHH1_LIVER 37 Missense_Mutation SNP G C uc004azc.2 TGFBR1_uc004azd... Hybrid_Cap... view
TLK1 2 171850178 171850179 JHH1_LIVER 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 JHH1_LIVER 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNFRSF13B p.G76S 17 16852271 16852271 JHH1_LIVER 37 Missense_Mutation SNP C T uc002gqs.1 TNFRSF13B_uc010... Hybrid_Cap... view
TTN 2 179391639 179391640 JHH1_LIVER 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.S5222N 2 179593256 179593256 JHH1_LIVER 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
ULK3 p.S350fs 15 75131066 75131070 JHH1_LIVER 37 Frame_Shift_Del Del CCGGG - uc010ulq.1 ULK3_uc010ulp.1... Hybrid_Cap...
UNC13C p.S483T 15 54306548 54306548 JHH1_LIVER 37 Missense_Mutation SNP G C uc002ack.2 Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 JHH1_LIVER 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WRN p.D42H 8 30916696 30916696 JHH1_LIVER 37 Missense_Mutation SNP G C uc003xio.3 Hybrid_Cap... view
WRN p.R369* 8 30938648 30938648 JHH1_LIVER 37 Nonsense_Mutation SNP C T rs17847577 uc003xio.3 WRN_uc011lbd.1_... Hybrid_Cap... view