Annotation Summary for Cell Line: SNU-81  

Cell line primary name: SNU-81
Cell line aliases: NCI-SNU-81
Gender: M
Site Primary: large_intestine
Histology: carcinoma
Hist Subtype1: NS
Notes:
Source: KCLB
Expression arrays: GAZER_p_NCLE_Expr_P13_HG-U133_Plus_2_C10_779682
SNP arrays: QUAFF_p_NCLE_DNAAffy12_GenomeWideSNP_6_A11_592728
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SNU-81

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 SNU81_LARGE_INT... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABCC3 17 48740801 48740801 SNU81_LARGE_INT... 37 Intron SNP C T uc002isl.2 ABCC3_uc002isk.... Hybrid_Cap... view
ABCC3 p.R1381C 17 48762097 48762097 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T rs45461799 uc002isl.2 ABCC3_uc002isn.... Hybrid_Cap... view
ABL2 p.V468G 1 179086472 179086472 SNU81_LARGE_INT... 37 Missense_Mutation SNP A C uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap... view
ACACA p.K2266N 17 35454024 35454024 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc002hno.2 ACACA_uc002hnk.... Hybrid_Cap... view
ACACA p.E377D 17 35620786 35620786 SNU81_LARGE_INT... 37 Missense_Mutation SNP T G uc002hno.2 ACACA_uc002hnk.... Hybrid_Cap... view
ACACB p.F2065L 12 109693973 109693973 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc001tob.2 ACACB_uc001toc.... Hybrid_Cap... view
ACOXL p.E473K 2 111806842 111806842 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc010yxk.1 ACOXL_uc010fkc.... Hybrid_Cap... view
ACVR1B 12 52380980 52380980 SNU81_LARGE_INT... 37 Intron SNP A C uc010snn.1 ACVR1B_uc001rzl... Hybrid_Cap... view
ACVR1C p.V289M 2 158401035 158401035 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T rs17856675 uc002tzk.3 ACVR1C_uc002tzl... Hybrid_Cap... view
ADAM12 10 127705618 127705618 SNU81_LARGE_INT... 37 3'UTR SNP G A uc001ljk.2 ADAM12_uc010qul... Hybrid_Cap... view
ADAM12 p.E41* 10 128019046 128019046 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP C A uc001ljk.2 ADAM12_uc010qul... Hybrid_Cap... view
ADAM17 2 9667890 9667890 SNU81_LARGE_INT... 37 Intron SNP T C uc002qzu.2 ADAM17_uc010ewy... Hybrid_Cap... view
ADAM18 p.P514T 8 39534964 39534964 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc003xni.2 ADAM18_uc010lww... Hybrid_Cap... view
ADAM28 8 24211994 24211997 SNU81_LARGE_INT... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAM32 p.E45* 8 38975679 38975679 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP G T uc003xmt.3 ADAM32_uc011lch... Hybrid_Cap... view
ADAM32 p.E215K 8 39022331 39022331 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc003xmt.3 ADAM32_uc011lch... Hybrid_Cap... view
ADAM32 p.Q380H 8 39068750 39068750 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc003xmt.3 ADAM32_uc011lch... Hybrid_Cap... view
ADAMTS18 p.S154S 16 77465225 77465225 SNU81_LARGE_INT... 37 Silent SNP G T uc002ffc.3 ADAMTS18_uc002f... Hybrid_Cap... view
ADAMTS18 p.R1146W 16 77323275 77323275 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc002ffc.3 Hybrid_Cap... view
ADAMTS19 p.K411N 5 128864293 128864293 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc003kvb.1 ADAMTS19_uc003k... Hybrid_Cap... view
ADAMTSL3 p.R913C 15 84651117 84651117 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc002bjz.3 ADAMTSL3_uc010b... Hybrid_Cap... view
ADCK1 p.D308N 14 78390863 78390863 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc001xui.2 ADCK1_uc010tvo.... Hybrid_Cap... view
ADCK4 p.R119C 19 41215976 41215976 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc002oor.2 ADCK4_uc002ooq.... Hybrid_Cap... view
ADRBK2 p.R101H 22 26057580 26057580 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc003abx.3 ADRBK2_uc010gux... Hybrid_Cap... view
AFF1 p.K979N 4 88048828 88048828 SNU81_LARGE_INT... 37 Missense_Mutation SNP A C uc011ccz.1 AFF1_uc003hqj.3... Hybrid_Cap... view
AFF3 p.S923Y 2 100199360 100199360 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc002taf.2 AFF3_uc002tag.2... Hybrid_Cap... view
AFF3 p.R57Q 2 100625353 100625353 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc002taf.2 AFF3_uc002tag.2... Hybrid_Cap... view
AFF4 p.S1035Y 5 132220807 132220807 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc003kyd.2 AFF4_uc011cxk.1... Hybrid_Cap... view
AGAP2 p.R730Q 12 58124693 58124693 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc001spq.2 AGAP2_uc001spp.... Hybrid_Cap... view
AGAP2 p.D517_splice 12 58126763 58126763 SNU81_LARGE_INT... 37 Splice_Site_SNP SNP C T uc001spq.2 AGAP2_uc001spp.... Hybrid_Cap... view
AKAP12 p.E231K 6 151670217 151670217 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 SNU81_LARGE_INT... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP12 p.E1677* 6 151674555 151674555 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP G T uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap... view
AKAP12 p.E1773* 6 151674843 151674843 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP G T uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap... view
AKAP6 p.A798T 14 33046371 33046371 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc001wrq.2 AKAP6_uc010aml.... Hybrid_Cap... view
AKAP6 p.E1373* 14 33291136 33291136 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP G T uc001wrq.2 Hybrid_Cap... view
AKAP6 p.D2050Y 14 33293167 33293167 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc001wrq.2 Hybrid_Cap... view
AKAP6 p.S2068L 14 33293222 33293222 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc001wrq.2 Hybrid_Cap... view
AKAP9 p.L133V 7 91621517 91621517 SNU81_LARGE_INT... 37 Missense_Mutation SNP T G uc003ulg.2 AKAP9_uc003uld.... Hybrid_Cap... view
AKAP9 p.E393* 7 91630408 91630408 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP G T uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap... view
AKAP9 p.E497* 7 91630720 91630720 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP G T uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap... view
AKAP9 p.E951D 7 91632084 91632084 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap... view
AKAP9 p.H1566N 7 91669991 91669991 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap... view
AKT3 p.E352D 1 243716138 243716138 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc001iab.1 AKT3_uc001hzz.1... Hybrid_Cap... view
ALDH7A1 p.F468C 5 125885900 125885900 SNU81_LARGE_INT... 37 Missense_Mutation SNP A C uc003ktx.2 ALDH7A1_uc003kt... Hybrid_Cap... view
ALK p.P367S 2 29754836 29754836 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc002rmy.2 Hybrid_Cap... view
ALPK2 p.A1283D 18 56203571 56203571 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap... view
ALPK2 p.S821Y 18 56204957 56204957 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap... view
ALS2 2 202587706 202587707 SNU81_LARGE_INT... 37 Intron Ins - A rs3219165 uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap...
ALS2 p.E1216K 2 202587822 202587822 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap... view
AMHR2 p.D426Y 12 53823750 53823750 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc001scx.1 AMHR2_uc009zmy.... Hybrid_Cap... view
ANAPC5 p.K698N 12 121746457 121746457 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc001uag.2 ANAPC5_uc010szu... Hybrid_Cap... view
ANAPC5 p.D406N 12 121766207 121766207 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc001uag.2 ANAPC5_uc010szu... Hybrid_Cap... view
ANAPC5 p.E190* 12 121783664 121783664 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP C A uc001uag.2 ANAPC5_uc001uah... Hybrid_Cap... view
APAF1 p.N73D 12 99042482 99042482 SNU81_LARGE_INT... 37 Missense_Mutation SNP A G uc001tfz.2 APAF1_uc001tfy.... Hybrid_Cap... view
APBB1IP 10 26790178 26790178 SNU81_LARGE_INT... 37 Intron SNP C A uc001iss.2 APBB1IP_uc001is... Hybrid_Cap... view
APC p.L360* 5 112154808 112154808 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP T G uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
APC p.S1392* 5 112175466 112175466 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP C A uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
APC p.R1450* 5 112175639 112175639 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP C T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
APC p.R2204* 5 112177901 112177901 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP C T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
APC 5 112179846 112179846 SNU81_LARGE_INT... 37 3'UTR SNP G T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
AR p.Q641H X 66931281 66931281 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc004dwu.1 AR_uc004dwv.1_M... Hybrid_Cap... view
AR p.P818S X 66942671 66942671 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc004dwu.1 AR_uc004dwv.1_M... Hybrid_Cap... view
ARFGEF1 p.F526L 8 68179674 68179674 SNU81_LARGE_INT... 37 Missense_Mutation SNP A G uc003xxo.1 ARFGEF1_uc003xx... Hybrid_Cap... view
ARFGEF1 p.K124T 8 68211532 68211532 SNU81_LARGE_INT... 37 Missense_Mutation SNP T G uc003xxo.1 Hybrid_Cap... view
ARHGAP26 p.T235_splice 5 142283104 142283104 SNU81_LARGE_INT... 37 Splice_Site_SNP SNP G T uc011dbj.1 ARHGAP26_uc003l... Hybrid_Cap... view
ARHGAP29 1 94655670 94655670 SNU81_LARGE_INT... 37 Intron SNP C T uc001dqj.3 ARHGAP29_uc009w... Hybrid_Cap... view
ARHGAP29 p.R348H 1 94668200 94668200 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc001dqj.3 ARHGAP29_uc009w... Hybrid_Cap... view
ARHGDIB p.S194L 12 15095481 15095481 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc001rcq.1 ARHGDIB_uc001rc... Hybrid_Cap... view
ARHGEF12 p.R907Q 11 120336052 120336052 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc001pxl.1 ARHGEF12_uc009z... Hybrid_Cap... view
ARID1A 1 27056127 27056127 SNU81_LARGE_INT... 37 Intron SNP C T uc001bmv.1 ARID1A_uc001bmt... Hybrid_Cap... view
ARID1A p.A2065T 1 27106582 27106582 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc001bmv.1 ARID1A_uc001bmu... Hybrid_Cap... view
ASPH p.A264_splice 8 62550924 62550925 SNU81_LARGE_INT... 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
ATF2 2 175939578 175939578 SNU81_LARGE_INT... 37 Intron SNP G T uc002ujl.2 ATF2_uc010fqv.2... Hybrid_Cap... view
ATF2 2 175979297 175979297 SNU81_LARGE_INT... 37 Intron SNP G A uc002ujl.2 ATF2_uc010fqv.2... Hybrid_Cap... view
ATG9B 7 150710241 150710241 SNU81_LARGE_INT... 37 3'UTR SNP G A uc011kvc.1 NOS3_uc003wif.2... Hybrid_Cap... view
ATIC p.R379* 2 216203538 216203538 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP C T uc002vex.3 ATIC_uc010zjo.1... Hybrid_Cap... view
ATM p.L1419I 11 108160347 108160347 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap... view
ATM p.L1794M 11 108173640 108173640 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap... view
ATP11A p.S580Y 13 113496623 113496623 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc001vsj.3 ATP11A_uc001vsi... Hybrid_Cap... view
ATP8B1 p.D1025Y 18 55319904 55319904 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc002lgw.2 Hybrid_Cap... view
ATR p.E910* 3 142272146 142272146 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP C A uc003eux.3 Hybrid_Cap... view
ATR p.S138I 3 142281831 142281831 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc003eux.3 Hybrid_Cap... view
ATRX p.K762N X 76938462 76938462 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc004ecp.3 ATRX_uc004ecq.3... Hybrid_Cap... view
AXIN1 p.D36E 16 396918 396918 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc002cgp.1 AXIN1_uc002cgq.... Hybrid_Cap... view
BAI1 p.G392R 8 143558591 143558591 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc003ywm.2 Hybrid_Cap... view
BAI3 p.H389N 6 69653856 69653856 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BAI3 p.F611L 6 69703758 69703758 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BAI3 p.S830Y 6 69943190 69943190 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BAI3 p.R980I 6 70034888 70034888 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BAI3 6 70049458 70049458 SNU81_LARGE_INT... 37 Intron SNP G T uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BAX p.E75K 19 49459080 49459080 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc002plf.1 BAX_uc002plg.1_... Hybrid_Cap... view
BCL6 p.R594Q 3 187443345 187443345 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc003frp.3 BCL6_uc011bsf.1... Hybrid_Cap... view
BIRC2 p.E530* 11 102248448 102248448 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP G T uc001pgy.2 BIRC2_uc010ruq.... Hybrid_Cap... view
BIRC5 p.E139* 17 76219552 76219552 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP G T uc002jvf.2 BIRC5_uc002jvg.... Hybrid_Cap... view
BIRC6 p.R1382Q 2 32667430 32667430 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc010ezu.2 Hybrid_Cap... view
BIRC6 p.P3137T 2 32728213 32728213 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc010ezu.2 Hybrid_Cap... view
BLM p.R15H 15 91290666 91290666 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc002bpr.2 BLM_uc010uqh.1_... Hybrid_Cap... view
BLM p.F1109L 15 91341536 91341536 SNU81_LARGE_INT... 37 Missense_Mutation SNP T G uc002bpr.2 BLM_uc010uqh.1_... Hybrid_Cap... view
BLNK 10 97951634 97951634 SNU81_LARGE_INT... 37 3'UTR SNP C A uc001kls.3 BLNK_uc001kme.3... Hybrid_Cap... view
BMP2K p.M536L 4 79793100 79793100 SNU81_LARGE_INT... 37 Missense_Mutation SNP A C uc003hlk.2 BMP2K_uc003hlj.... Hybrid_Cap... view
BMPR1B p.N257Y 4 96051196 96051196 SNU81_LARGE_INT... 37 Missense_Mutation SNP A T uc003htm.3 BMPR1B_uc010ilb... Hybrid_Cap... view
BMPR2 p.K564N 2 203420080 203420080 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc002uzf.3 BMPR2_uc010ftr.... Hybrid_Cap... view
BMPR2 p.E785K 2 203420741 203420741 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc002uzf.3 BMPR2_uc010ftr.... Hybrid_Cap... view
BMX p.A580V X 15564988 15564988 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc004cww.2 BMX_uc004cwx.3_... Hybrid_Cap... view
BRCA1 p.E575K 17 41245825 41245825 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc002ict.2 BRCA1_uc010whp.... Hybrid_Cap... view
BRCA2 p.E1928* 13 32914274 32914274 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP G T rs56253082 uc001uub.1 Hybrid_Cap... view
BRD3 p.A478T 9 136905367 136905367 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc004cew.2 BRD3_uc004cex.2... Hybrid_Cap... view
BRIP1 p.E387* 17 59876642 59876642 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP C A uc002izk.1 Hybrid_Cap... view
BTRC p.R513* 10 103296370 103296370 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP C T uc001kta.2 BTRC_uc001ktb.2... Hybrid_Cap... view
BUB1 p.E253* 2 111425146 111425146 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP C A uc002tgc.2 BUB1_uc010yxh.1... Hybrid_Cap... view
C15ORF2 p.G171W 15 24921525 24921525 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc001ywo.2 Hybrid_Cap... view
C15ORF2 p.A278V 15 24921847 24921847 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc001ywo.2 Hybrid_Cap... view
C15ORF55 p.G488* 15 34647321 34647321 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP G T uc010ucc.1 C15orf55_uc010u... Hybrid_Cap... view
C6ORF97 p.E135K 6 151859396 151859396 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc003qol.2 Hybrid_Cap... view
CABC1 p.D7Y 1 227149105 227149105 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc001hqm.1 CABC1_uc010pvp.... Hybrid_Cap... view
CACNB2 p.K386T 10 18823107 18823107 SNU81_LARGE_INT... 37 Missense_Mutation SNP A C uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap... view
CACNB2 10 18828721 18828722 SNU81_LARGE_INT... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAD p.R1722Q 2 27462012 27462012 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc002rji.2 CAD_uc010eyw.2_... Hybrid_Cap... view
CAMK1 p.D18Y 3 9809382 9809382 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc003bst.2 CAMK1_uc003bsu.... Hybrid_Cap... view
CAMK2D p.L449I 4 114378681 114378681 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc003ibo.3 CAMK2D_uc003ibi... Hybrid_Cap... view
CAMK4 p.L93R 5 110710585 110710585 SNU81_LARGE_INT... 37 Missense_Mutation SNP T G uc011cvj.1 CAMK4_uc003kpf.... Hybrid_Cap... view
CAMKK2 p.N184T 12 121707353 121707353 SNU81_LARGE_INT... 37 Missense_Mutation SNP T G uc001tzu.2 CAMKK2_uc001tzt... Hybrid_Cap... view
CARD11 p.R47C 7 2987290 2987290 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc003smv.2 Hybrid_Cap... view
CARS p.F811F 11 3022407 3022407 SNU81_LARGE_INT... 37 Silent SNP G A uc001lxf.2 CARS_uc009ydu.2... Hybrid_Cap... view
CASC5 p.E979* 15 40915319 40915319 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP G T uc010bbs.1 CASC5_uc010ucq.... Hybrid_Cap... view
CASK p.S602L X 41416286 41416286 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc004dfl.3 CASK_uc004dfj.3... Hybrid_Cap... view
CASP10 2 202082498 202082498 SNU81_LARGE_INT... 37 3'UTR SNP G A uc002uxj.1 CASP10_uc002uxk... Hybrid_Cap... view
CASP2 7 143002224 143002224 SNU81_LARGE_INT... 37 3'UTR SNP A C uc003wco.2 CASP2_uc003wcp.... Hybrid_Cap... view
CASP7 p.F131V 10 115481454 115481454 SNU81_LARGE_INT... 37 Missense_Mutation SNP T G uc001lao.2 CASP7_uc001lam.... Hybrid_Cap... view
CATSPERB p.R896I 14 92074660 92074660 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc001xzs.1 CATSPERB_uc010a... Hybrid_Cap... view
CATSPERB p.R491I 14 92105555 92105555 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc001xzs.1 CATSPERB_uc010a... Hybrid_Cap... view
CATSPERB p.R419Q 14 92136189 92136189 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc001xzs.1 CATSPERB_uc010a... Hybrid_Cap... view
CBFB 16 67132819 67132819 SNU81_LARGE_INT... 37 3'UTR SNP A G uc002erb.2 CBFB_uc002era.2... Hybrid_Cap... view
CBL p.R499Q 11 119155743 119155743 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc001pwe.2 Hybrid_Cap... view
CCDC50 p.R263Q 3 191093190 191093190 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc003fsv.2 CCDC50_uc003fsw... Hybrid_Cap... view
CCDC6 p.E285D 10 61566829 61566829 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc001jks.3 Hybrid_Cap... view
CCNT1 p.E276* 12 49088171 49088171 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP C A uc001rse.1 LOC144438_uc001... Hybrid_Cap... view
CCNT1 p.L184F 12 49089936 49089936 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc001rse.1 CCNT1_uc009zkz.... Hybrid_Cap... view
CD160 1 145698882 145698882 SNU81_LARGE_INT... 37 Intron SNP G T uc001eol.1 NBPF10_uc001emp... Hybrid_Cap... view
CD44 11 35250984 35250984 SNU81_LARGE_INT... 37 3'UTR SNP G T uc001mvu.2 CD44_uc001mvv.2... Hybrid_Cap... view
CDC25C p.K77N 5 137666873 137666873 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc003lcs.1 CDC25C_uc003lcp... Hybrid_Cap... view
CDC42BPA p.R319* 1 227333378 227333378 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP G A uc001hqr.2 CDC42BPA_uc001h... Hybrid_Cap... view
CDC5L p.R181H 6 44371548 44371548 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc003oxl.2 Hybrid_Cap... view
CDH11 p.A711A 16 64981764 64981764 SNU81_LARGE_INT... 37 Silent SNP C T uc002eoi.2 CDH11_uc010cdn.... Hybrid_Cap... view
CDH11 p.E671* 16 64981886 64981886 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP C A uc002eoi.2 CDH11_uc010cdn.... Hybrid_Cap... view
CDH2 p.S92R 18 25593770 25593770 SNU81_LARGE_INT... 37 Missense_Mutation SNP G C uc002kwg.2 CDH2_uc010xbn.1... Hybrid_Cap... view
CDK1 p.L282R 10 62553684 62553684 SNU81_LARGE_INT... 37 Missense_Mutation SNP T G uc001jld.2 CDK1_uc001jle.2... Hybrid_Cap... view
CDK11B 1 1654066 1654068 SNU81_LARGE_INT... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK12 p.S434* 17 37627386 37627386 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP C A uc010cvv.2 CDK12_uc010wef.... Hybrid_Cap... view
CDK12 p.E1069* 17 37681036 37681036 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP G T uc010cvv.2 CDK12_uc010wef.... Hybrid_Cap... view
CDK19 p.E357* 6 110943332 110943332 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP C A uc003puh.1 CDK19_uc003pui.... Hybrid_Cap... view
CDK19 p.G163C 6 110959879 110959879 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc003puh.1 CDK19_uc003pui.... Hybrid_Cap... view
CDK2 p.K88E 12 56361900 56361900 SNU81_LARGE_INT... 37 Missense_Mutation SNP A G uc001sit.3 CDK2_uc001siu.3... Hybrid_Cap... view
CDK3 p.R330L 17 74001491 74001491 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc002jqg.3 CDK3_uc010dgt.2... Hybrid_Cap... view
CDKL1 p.K185N 14 50862602 50862602 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc010anu.1 CDKL1_uc001wxz.... Hybrid_Cap... view
CDKL2 p.E299* 4 76523386 76523386 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP C A uc011cbp.1 CDKL2_uc003hiq.... Hybrid_Cap... view
CDKL3 p.L449I 5 133643848 133643848 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc003kzf.3 CDKL3_uc011cxm.... Hybrid_Cap... view
CDKL3 p.P153S 5 133686022 133686022 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc003kzf.3 CDKL3_uc011cxm.... Hybrid_Cap... view
CDKL3 p.F81C 5 133695706 133695706 SNU81_LARGE_INT... 37 Missense_Mutation SNP A C uc003kzf.3 CDKL3_uc011cxm.... Hybrid_Cap... view
CDKL4 2 39406276 39406276 SNU81_LARGE_INT... 37 Intron SNP A C uc010fal.1 CDKL4_uc002rrm.... Hybrid_Cap... view
CDKN2A 9 21968111 21968111 SNU81_LARGE_INT... 37 3'UTR SNP C A uc003zpl.2 MTAP_uc003zpi.1... Hybrid_Cap... view
CDKN2C 1 51435783 51435783 SNU81_LARGE_INT... 37 Intron SNP T C rs3176454 uc001csf.2 CDKN2C_uc001csg... Hybrid_Cap... view
CEP110 p.E1570* 9 123920331 123920331 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP G T uc004bkx.1 CEP110_uc010mvo... Hybrid_Cap... view
CEP110 p.E1825D 9 123927272 123927272 SNU81_LARGE_INT... 37 Missense_Mutation SNP A C uc004bkx.1 CEP110_uc004blb... Hybrid_Cap... view
CEP110 p.E2036D 9 123931926 123931926 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc004bkx.1 CEP110_uc004blb... Hybrid_Cap... view
CEP110 p.F2062L 9 123932004 123932004 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc004bkx.1 CEP110_uc004blb... Hybrid_Cap... view
CFI p.K569T 4 110662119 110662119 SNU81_LARGE_INT... 37 Missense_Mutation SNP T G uc011cft.1 CFI_uc003hzq.2_... Hybrid_Cap... view
CFI p.R347Q 4 110670683 110670683 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc011cft.1 CFI_uc003hzq.2_... Hybrid_Cap... view
CFI p.R344* 4 110670692 110670693 SNU81_LARGE_INT... 37 Nonsense_Mutation DNP CG TA uc011cft.1 CFI_uc003hzq.2_... Hybrid_Cap...
CHD1 p.R1574I 5 98193950 98193950 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap... view
CHD1 p.R900Q 5 98218811 98218811 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc003knf.2 Hybrid_Cap... view
CHD5 p.R65Q 1 6228223 6228223 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc001amb.1 Hybrid_Cap... view
CHD5 p.K62E 1 6228233 6228233 SNU81_LARGE_INT... 37 Missense_Mutation SNP T C uc001amb.1 Hybrid_Cap... view
CHD8 14 21853630 21853630 SNU81_LARGE_INT... 37 3'UTR Del T - rs78520772 uc001was.1 CHD8_uc001war.1... Hybrid_Cap...
CHD8 p.R1169W 14 21869062 21869062 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc001was.1 CHD8_uc001war.1... Hybrid_Cap... view
CHD9 p.R1988C 16 53337880 53337880 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CHD9 p.F252C 16 53190756 53190756 SNU81_LARGE_INT... 37 Missense_Mutation SNP T G uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CHEK2 p.V289I 22 29107953 29107953 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc003adt.1 CHEK2_uc003ads.... Hybrid_Cap... view
CHIC2 p.R163* 4 54876273 54876273 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP G A uc003haj.1 PDGFRA_uc003haa... Hybrid_Cap... view
CHL1 p.E401K 3 402002 402002 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc003bot.2 CHL1_uc003bou.2... Hybrid_Cap... view
CHL1 p.D823Y 3 431154 431154 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc003bot.2 CHL1_uc003bou.2... Hybrid_Cap... view
CHRNB4 p.R22R 15 78927919 78927919 SNU81_LARGE_INT... 37 Silent SNP G A uc002bed.1 CHRNB4_uc002bee... Hybrid_Cap... view
CHRNB4 p.C21C 15 78927922 78927922 SNU81_LARGE_INT... 37 Silent SNP G A uc002bed.1 CHRNB4_uc002bee... Hybrid_Cap... view
CHUK p.R104* 10 101982628 101982628 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP G A uc001kqp.2 Hybrid_Cap... view
CHUK p.E82* 10 101982694 101982694 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP C A uc001kqp.2 Hybrid_Cap... view
CIT p.E1795K 12 120139685 120139685 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap... view
CIT p.R220_splice 12 120270670 120270670 SNU81_LARGE_INT... 37 Splice_Site_SNP SNP T G uc001txj.1 CIT_uc001txi.1_... Hybrid_Cap... view
CLK3 p.Q552H 15 74921289 74921289 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc010uln.1 CLK3_uc002ayg.3... Hybrid_Cap... view
CLK4 p.F249C 5 178040554 178040554 SNU81_LARGE_INT... 37 Missense_Mutation SNP A C uc003mjf.1 CLK4_uc003mjg.1... Hybrid_Cap... view
CLPTM1 p.K199* 19 45488484 45488484 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP A T uc002pai.2 CLPTM1_uc010ejv... Hybrid_Cap... view
CLTC p.E87* 17 57721853 57721853 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP G T uc002ixr.1 CLTC_uc002ixp.2... Hybrid_Cap... view
CLTC p.L1474I 17 57761320 57761320 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc002ixr.1 CLTC_uc002ixp.2... Hybrid_Cap... view
CLTCL1 p.F1410L 22 19178909 19178909 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap... view
CLTCL1 p.R1545W 22 19171097 19171097 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 SNU81_LARGE_INT... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNBP p.V46A 3 128890369 128890369 SNU81_LARGE_INT... 37 Missense_Mutation SNP A G uc003elq.3 CNBP_uc003elr.3... Hybrid_Cap... view
CNTN1 p.A323S 12 41327662 41327662 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc001rmm.1 CNTN1_uc009zjy.... Hybrid_Cap... view
CNTN5 p.R627M 11 100064391 100064391 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc001pga.2 CNTN5_uc009ywv.... Hybrid_Cap... view
CNTN5 p.E141* 11 99715838 99715838 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP G T uc001pga.2 CNTN5_uc009ywv.... Hybrid_Cap... view
COL14A1 p.A910T 8 121262981 121262981 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc003yox.2 COL14A1_uc003yo... Hybrid_Cap... view
COL14A1 p.E1024* 8 121279119 121279119 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP G T uc003yox.2 COL14A1_uc003yo... Hybrid_Cap... view
COL14A1 p.R1131I 8 121290728 121290728 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc003yox.2 COL14A1_uc003yo... Hybrid_Cap... view
COL14A1 p.E1345K 8 121298165 121298165 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A rs115448007 uc003yox.2 COL14A1_uc003yo... Hybrid_Cap... view
COL14A1 p.E1606* 8 121353594 121353594 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP G T uc003yox.2 COL14A1_uc003yo... Hybrid_Cap... view
COL3A1 p.P566L 2 189861158 189861158 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc002uqj.1 Hybrid_Cap... view
COPS5 p.F285L 8 67958112 67958112 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc003xxe.2 COPS5_uc003xxd.... Hybrid_Cap... view
CPAMD8 p.R1380H 19 17017791 17017791 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc002nfb.2 Hybrid_Cap... view
CREB3L2 p.R367Q 7 137570192 137570192 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 SNU81_LARGE_INT... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CREBBP p.R1446H 16 3788617 3788617 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CRKL p.E54D 22 21272384 21272384 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc002ztf.2 CRKL_uc002ztg.1... Hybrid_Cap... view
CSMD3 p.S3260Y 8 113275951 113275951 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 p.P2872L 8 113304939 113304939 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 p.S1090Y 8 113657379 113657379 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 p.F1026L 8 113662505 113662505 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 p.Y656C 8 113812396 113812396 SNU81_LARGE_INT... 37 Missense_Mutation SNP T C uc003ynu.2 CSMD3_uc003ynt.... Hybrid_Cap... view
CSMD3 p.N590H 8 113842006 113842006 SNU81_LARGE_INT... 37 Missense_Mutation SNP T G uc003ynu.2 CSMD3_uc003ynt.... Hybrid_Cap... view
CSMD3 p.W228* 8 114185976 114185976 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP C T uc003ynu.2 CSMD3_uc003ynt.... Hybrid_Cap... view
CSMD3 p.D31Y 8 114448993 114448993 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc003ynu.2 CSMD3_uc011lhx.... Hybrid_Cap... view
CSNK1A1 5 148876348 148876348 SNU81_LARGE_INT... 37 3'UTR SNP C A uc003lqw.1 CSNK1A1_uc011dc... Hybrid_Cap... view
CSNK1G1 p.E198K 15 64506176 64506176 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc002anh.1 CSNK1G1_uc002an... Hybrid_Cap... view
CSNK1G3 p.G211E 5 122911616 122911616 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc003ktl.2 CSNK1G3_uc003kt... Hybrid_Cap... view
CSNK1G3 p.R314Q 5 122926203 122926203 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc003ktl.2 CSNK1G3_uc003kt... Hybrid_Cap... view
CSNK1G3 p.K455T 5 122950086 122950086 SNU81_LARGE_INT... 37 Missense_Mutation SNP A C uc003ktl.2 CSNK1G3_uc003kt... Hybrid_Cap... view
CSNK2A1 p.F197L 20 472928 472928 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc002wdw.1 CSNK2A1_uc002wd... Hybrid_Cap... view
CSPP1 p.K798N 8 68070744 68070744 SNU81_LARGE_INT... 37 Missense_Mutation SNP A C uc003xxi.2 CSPP1_uc003xxg.... Hybrid_Cap... view
CTNNA2 p.R930Q 2 80874924 80874924 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc010ysh.1 CTNNA2_uc010yse... Hybrid_Cap... view
CTNNB1 p.E334K 3 41268762 41268762 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc010hia.1 CTNNB1_uc003ckp... Hybrid_Cap... view
CTNNB1 p.R474Q 3 41275255 41275255 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc010hia.1 CTNNB1_uc003ckp... Hybrid_Cap... view
CTSL1 p.D273Y 9 90345328 90345328 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc004aph.2 CTSL1_uc004api.... Hybrid_Cap... view
CUBN p.F2394I 10 16957850 16957850 SNU81_LARGE_INT... 37 Missense_Mutation SNP A T uc001ioo.2 Hybrid_Cap... view
CUBN p.S2387Y 10 16957870 16957870 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc001ioo.2 Hybrid_Cap... view
CUBN p.E934* 10 17110271 17110271 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP C A uc001ioo.2 Hybrid_Cap... view
CXCL9 p.R114* 4 76924789 76924789 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP G A uc003hjh.1 Hybrid_Cap... view
CXCR7 p.R161H 2 237489590 237489590 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc010fyq.2 CXCR7_uc002vwd.... Hybrid_Cap... view
CYLD p.R351I 16 50811766 50811766 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc002egp.1 CYLD_uc002egn.1... Hybrid_Cap... view
CYP24A1 20 52788255 52788255 SNU81_LARGE_INT... 37 Intron SNP G T uc002xwv.2 CYP24A1_uc002xw... Hybrid_Cap... view
DAB1 p.S515R 1 57476845 57476845 SNU81_LARGE_INT... 37 Missense_Mutation SNP A C uc001cys.1 DAB1_uc001cyt.1... Hybrid_Cap... view
DACH1 13 72014625 72014626 SNU81_LARGE_INT... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DCLK1 p.F474V 13 36397000 36397000 SNU81_LARGE_INT... 37 Missense_Mutation SNP A C uc001uvf.2 DCLK1_uc001uve.... Hybrid_Cap... view
DCLK2 p.R203L 4 151023816 151023816 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc003ilo.3 DCLK2_uc003ilm.... Hybrid_Cap... view
DCLK3 p.E188K 3 36779589 36779589 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc003cgi.2 Hybrid_Cap... view
DDR1 p.S745_splice 6 30865849 30865849 SNU81_LARGE_INT... 37 Splice_Site_SNP SNP G A uc003nrv.2 DDR1_uc010jse.2... Hybrid_Cap... view
DDR2 p.H95R 1 162724512 162724512 SNU81_LARGE_INT... 37 Missense_Mutation SNP A G uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap... view
DDR2 p.R489* 1 162740263 162740263 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP C T uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap... view
DDR2 p.G719D 1 162746033 162746033 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap... view
DDX10 p.K34N 11 108535982 108535982 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc001pkm.2 DDX10_uc001pkl.... Hybrid_Cap... view
DDX10 p.K441_splice 11 108586605 108586605 SNU81_LARGE_INT... 37 Splice_Site_SNP SNP G A uc001pkm.2 DDX10_uc001pkl.... Hybrid_Cap... view
DFNA5 p.R42I 7 24789269 24789269 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc010kus.1 DFNA5_uc003swz.... Hybrid_Cap... view
DGKB 7 14216330 14216332 SNU81_LARGE_INT... 37 Intron Del AAC - uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap...
DGKB p.Y331D 7 14722222 14722222 SNU81_LARGE_INT... 37 Missense_Mutation SNP A C uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap... view
DGKB p.E205* 7 14733798 14733798 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP C A uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap... view
DICER1 p.N161H 14 95596487 95596487 SNU81_LARGE_INT... 37 Missense_Mutation SNP T G uc001ydw.2 DICER1_uc001ydv... Hybrid_Cap... view
DLC1 p.R347* 8 13259113 13259113 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP G A uc003wwm.2 DLC1_uc003wwn.2... Hybrid_Cap... view
DNAH8 p.M282I 6 38723837 38723837 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc003ooe.1 Hybrid_Cap... view
DNAH8 p.M375I 6 38743541 38743541 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc003ooe.1 Hybrid_Cap... view
DNAH8 p.S733Y 6 38759398 38759398 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc003ooe.1 Hybrid_Cap... view
DNAH8 p.V1288I 6 38810190 38810190 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc003ooe.1 Hybrid_Cap... view
DNAH8 p.M1451V 6 38813506 38813506 SNU81_LARGE_INT... 37 Missense_Mutation SNP A G uc003ooe.1 Hybrid_Cap... view
DNAH8 p.D2053Y 6 38835952 38835952 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc003ooe.1 Hybrid_Cap... view
DNAH8 p.E2213G 6 38840733 38840733 SNU81_LARGE_INT... 37 Missense_Mutation SNP A G uc003ooe.1 Hybrid_Cap... view
DNAH8 p.P2617H 6 38858455 38858455 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc003ooe.1 Hybrid_Cap... view
DNAH8 p.R3949* 6 38939412 38939412 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP C T uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap... view
DNAH8 p.E4095* 6 38950221 38950221 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP G T uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap... view
DNAH8 p.V4376A 6 38994385 38994385 SNU81_LARGE_INT... 37 Missense_Mutation SNP T C uc003ooe.1 Hybrid_Cap... view
DNAH8 p.P4451H 6 38998047 38998047 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc003ooe.1 Hybrid_Cap... view
DNMT3B p.E674K 20 31389107 31389107 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc002wyc.2 DNMT3B_uc002wyd... Hybrid_Cap... view
DNMT3B p.Q827H 20 31395628 31395628 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc002wyc.2 DNMT3B_uc002wyd... Hybrid_Cap... view
DOCK3 p.D234N 3 51127769 51127769 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc011bds.1 Hybrid_Cap... view
DST p.R5557* 6 56325025 56325025 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP G A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST p.L2515* 6 56433371 56433371 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP A C uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST 6 56470926 56470926 SNU81_LARGE_INT... 37 Intron SNP C A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST 6 56481832 56481832 SNU81_LARGE_INT... 37 Intron SNP C A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST 6 56483461 56483461 SNU81_LARGE_INT... 37 Intron SNP C A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST 6 56483624 56483624 SNU81_LARGE_INT... 37 Intron SNP C A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST 6 56484057 56484057 SNU81_LARGE_INT... 37 Intron SNP C A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST 6 56484298 56484298 SNU81_LARGE_INT... 37 Intron SNP G A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST p.Q1078H 6 56499605 56499605 SNU81_LARGE_INT... 37 Missense_Mutation SNP T G uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DVL1 p.F47L 1 1284305 1284305 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc001aer.3 Hybrid_Cap... view
DYRK1A p.R179C 21 38858787 38858787 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc002ywk.2 DYRK1A_uc002ywh... Hybrid_Cap... view
DYRK1B 19 40320877 40320877 SNU81_LARGE_INT... 37 Intron SNP G T uc002omj.2 DYRK1B_uc002omi... Hybrid_Cap... view
DYRK2 p.R523C 12 68052254 68052254 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc001str.3 DYRK2_uc001sts.... Hybrid_Cap... view
DYRK3 p.S116F 1 206820890 206820890 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc001hej.2 DYRK3_uc001hek.... Hybrid_Cap... view
DYRK3 p.E167* 1 206821042 206821042 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP G T uc001hej.2 DYRK3_uc001hek.... Hybrid_Cap... view
ECM1 p.R311W 1 150484068 150484068 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc001euu.2 ECM1_uc010pce.1... Hybrid_Cap... view
EGF p.F50L 4 110862124 110862124 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap... view
EGF p.S226Y 4 110865165 110865165 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap... view
EGF 4 110901952 110901952 SNU81_LARGE_INT... 37 Intron SNP A G uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap... view
EGF p.D795Y 4 110904589 110904589 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap... view
EGF p.E1134fs 4 110932389 110932390 SNU81_LARGE_INT... 37 Frame_Shift_Ins Ins - C rs11569144 uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap...
EGFR 7 55224588 55224588 SNU81_LARGE_INT... 37 Intron SNP C T uc003tqk.2 EGFR_uc003tqh.2... Hybrid_Cap... view
EHBP1 2 62998542 62998542 SNU81_LARGE_INT... 37 Intron SNP A G uc002sby.2 EHBP1_uc010fcp.... Hybrid_Cap... view
EIF2AK1 p.E603* 7 6064390 6064390 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP C A uc003spp.2 EIF2AK1_uc003sp... Hybrid_Cap... view
EIF2AK2 2 37374952 37374952 SNU81_LARGE_INT... 37 5'UTR SNP C A uc010ynh.1 EIF2AK2_uc010fa... Hybrid_Cap... view
EIF2AK4 15 40284185 40284185 SNU81_LARGE_INT... 37 Intron SNP T G uc001zkm.1 EIF2AK4_uc010bb... Hybrid_Cap... view
EIF3A p.R893G 10 120803636 120803636 SNU81_LARGE_INT... 37 Missense_Mutation SNP T C uc001ldu.2 EIF3A_uc010qsu.... Hybrid_Cap... view
EIF3A p.K689N 10 120816463 120816463 SNU81_LARGE_INT... 37 Missense_Mutation SNP C A uc001ldu.2 EIF3A_uc010qsu.... Hybrid_Cap... view
EIF4A2 p.Y52Y 3 186502430 186502430 SNU81_LARGE_INT... 37 Silent SNP C T uc003fqu.2 EIF4A2_uc003fqs... Hybrid_Cap... view
EIF4B p.D346A 12 53427647 53427647 SNU81_LARGE_INT... 37 Missense_Mutation SNP A C uc010snu.1 EIF4B_uc001sbh.... Hybrid_Cap... view
EIF4G1 p.A794T 3 184041652 184041652 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc010hxx.2 EIF4G1_uc003fno... Hybrid_Cap... view
EIF5A 17 7213187 7213187 SNU81_LARGE_INT... 37 Intron SNP G A uc002gfr.2 EIF5A_uc010vtu.... Hybrid_Cap... view
ELK1 X 47498955 47498955 SNU81_LARGE_INT... 37 Intron SNP T C uc004dik.3 ELK1_uc010nhv.2... Hybrid_Cap... view
EP300 p.E643* 22 41537100 41537100 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP G T uc003azl.3 Hybrid_Cap... view
EP300 p.E1229* 22 41558740 41558740 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP G T uc003azl.3 Hybrid_Cap... view
EP300 p.R1234I 22 41558756 41558756 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc003azl.3 Hybrid_Cap... view
EPHA3 p.E54* 3 89259016 89259016 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP G T uc003dqy.2 EPHA3_uc003dqx.... Hybrid_Cap... view
EPHA3 p.D105G 3 89259170 89259170 SNU81_LARGE_INT... 37 Missense_Mutation SNP A G uc003dqy.2 EPHA3_uc003dqx.... Hybrid_Cap... view
EPHA3 3 89448754 89448754 SNU81_LARGE_INT... 37 Intron SNP G A uc003dqy.2 EPHA3_uc003dqx.... Hybrid_Cap... view
EPHA5 p.E522* 4 66280125 66280125 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP C A uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 SNU81_LARGE_INT... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHA6 3 97367326 97367326 SNU81_LARGE_INT... 37 Intron SNP T G uc010how.1 EPHA6_uc003drs.... Hybrid_Cap... view
EPHA7 p.A946T 6 93955062 93955062 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc003poe.2 EPHA7_uc003pof.... Hybrid_Cap... view
EPHA7 p.G737* 6 93965719 93965719 SNU81_LARGE_INT... 37 Nonsense_Mutation SNP C A uc003poe.2 EPHA7_uc003pof.... Hybrid_Cap... view
EPHA7 p.E460K 6 93982087 93982087 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc003poe.2 EPHA7_uc003pof.... Hybrid_Cap... view
EPHA7 6 94129119 94129119 SNU81_LARGE_INT... 37 5'UTR SNP C A uc003poe.2 EPHA7_uc003pof.... Hybrid_Cap... view
ERBB3 p.V699V 12 56490328 56490328 SNU81_LARGE_INT... 37 Silent SNP C A uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap... view
ERBB4 p.R95C 2 212812293 212812293 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc002veg.1 ERBB4_uc002veh.... Hybrid_Cap... view
ERC1 p.E290D 12 1192530 1192530 SNU81_LARGE_INT... 37 Missense_Mutation SNP A C uc001qjb.2 ERC1_uc001qiz.2... Hybrid_Cap... view
ERC1 p.R332I 12 1192655 1192655 SNU81_LARGE_INT... 37 Missense_Mutation SNP G T uc001qjb.2 ERC1_uc001qiz.2... Hybrid_Cap... view
ERC1 p.L920V 12 1399156 1399156 SNU81_LARGE_INT... 37 Missense_Mutation SNP T G uc001qjb.2 ERC1_uc001qiz.2... Hybrid_Cap... view
ERCC5 p.E1002K 13 103515141 103515141 SNU81_LARGE_INT... 37 Missense_Mutation SNP G A uc001vpu.1 ERCC5_uc010tjb.... Hybrid_Cap... view
ERCC6 10 50713913 50713913 SNU81_LARGE_INT... 37 Intron SNP G T uc001jhs.3 ERCC6_uc001jhr.... Hybrid_Cap... view
ERG 21 39870326 39870326 SNU81_LARGE_INT... 37 Intron SNP C T uc010gnw.2 ERG_uc002yxa.2_... Hybrid_Cap... view
ESR1 p.S343L 6 152265569 152265569 SNU81_LARGE_INT... 37 Missense_Mutation SNP C T uc010kio.2 ESR1_uc003qom.3... Hybrid_Cap... view
ESR1 p.D482G 6 152415589 152415589 SNU81_LARGE_INT... 37 Missense_Mutation SNP A G uc010kio.2 ESR1_uc003qom.3... Hybrid_Cap... view
ETV1 7 14028708 14028708 SNU81_LARGE_INT... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
EXT1 p.G276E 8 119122