Annotation Summary for Cell Line: SNU-1040  

Cell line primary name: SNU-1040
Cell line aliases: NCI-SNU-1040
Gender: M
Site Primary: large_intestine
Histology: carcinoma
Hist Subtype1: NS
Notes:
Source: KCLB
Expression arrays: GILDS_p_NCLE_RNA11_Redo_HG-U133_Plus_2_A01_587656
SNP arrays: QUAFF_p_NCLE_DNAAffy12_GenomeWideSNP_6_F07_592806
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SNU-1040

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
AAK1 2 69702789 69702789 SNU1040_LARGE_I... 37 3'UTR SNP A G uc002sfp.2 Hybrid_Cap... view
AAK1 p.541_542QQ>Q 2 69741754 69741756 SNU1040_LARGE_I... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
AATK p.R1144H 17 79094305 79094305 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc010dia.2 AATK_uc010dhz.2... Hybrid_Cap... view
ABCA3 p.R1035C 16 2336870 2336870 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc002cpy.1 ABCA3_uc010bsk.... Hybrid_Cap... view
ABCC3 p.A403V 17 48741342 48741342 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc002isl.2 ABCC3_uc002isk.... Hybrid_Cap... view
ABCC3 p.P1056S 17 48753737 48753737 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc002isl.2 ABCC3_uc002isn.... Hybrid_Cap... view
ABCC4 p.V860M 13 95735502 95735502 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T rs45477596 uc001vmd.3 ABCC4_uc010afk.... Hybrid_Cap... view
ABI1 10 27037488 27037488 SNU1040_LARGE_I... 37 3'UTR Del A - rs75446996 uc001isx.2 ABI1_uc001ite.2... Hybrid_Cap...
ABL1 p.P589S 9 133759385 133759385 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc004bzv.2 ABL1_uc004bzw.2... Hybrid_Cap... view
ABL2 p.V345A 1 179089336 179089336 SNU1040_LARGE_I... 37 Missense_Mutation SNP A G uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap... view
ABL2 p.E684K 1 179078352 179078352 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap... view
ACACA p.R419H 17 35620661 35620661 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc002hno.2 ACACA_uc002hnk.... Hybrid_Cap... view
ACACA p.S62P 17 35687267 35687267 SNU1040_LARGE_I... 37 Missense_Mutation SNP A G uc002hno.2 ACACA_uc002hnm.... Hybrid_Cap... view
ACACB p.R277C 12 109605743 109605743 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc001tob.2 ACACB_uc001toc.... Hybrid_Cap... view
ACACB p.A779T 12 109629691 109629691 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc001tob.2 ACACB_uc001toc.... Hybrid_Cap... view
ACACB p.N781S 12 109629698 109629698 SNU1040_LARGE_I... 37 Missense_Mutation SNP A G uc001tob.2 ACACB_uc001toc.... Hybrid_Cap... view
ACSL6 p.R374H 5 131309041 131309041 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc003kvx.1 ACSL6_uc003kvv.... Hybrid_Cap... view
ACSL6 p.V276A 5 131323745 131323745 SNU1040_LARGE_I... 37 Missense_Mutation SNP A G uc003kvx.1 ACSL6_uc003kvv.... Hybrid_Cap... view
ACVR1 2 158593857 158593857 SNU1040_LARGE_I... 37 3'UTR SNP G A uc002tzm.3 ACVR1_uc002tzn.... Hybrid_Cap... view
ACVR1B p.P119L 12 52370135 52370135 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc010snn.1 ACVR1B_uc001rzl... Hybrid_Cap... view
ACVR1B p.R515* 12 52387796 52387796 SNU1040_LARGE_I... 37 Nonsense_Mutation SNP C T uc010snn.1 ACVR1B_uc001rzn... Hybrid_Cap... view
ACVR2A p.K435fs 2 148683686 148683686 SNU1040_LARGE_I... 37 Frame_Shift_Del Del A - uc002twg.2 ACVR2A_uc010zbn... Hybrid_Cap...
ACVRL1 p.V315A 12 52309180 52309180 SNU1040_LARGE_I... 37 Missense_Mutation SNP T C uc001rzj.2 ACVRL1_uc001rzk... Hybrid_Cap... view
ADAM12 p.A327T 10 127787011 127787011 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc001ljk.2 ADAM12_uc010qul... Hybrid_Cap... view
ADAM12 p.D269G 10 127789755 127789755 SNU1040_LARGE_I... 37 Missense_Mutation SNP T C uc001ljk.2 ADAM12_uc010qul... Hybrid_Cap... view
ADAM18 p.Y47C 8 39463833 39463833 SNU1040_LARGE_I... 37 Missense_Mutation SNP A G uc003xni.2 ADAM18_uc003xnh... Hybrid_Cap... view
ADAM18 p.S659fs 8 39564382 39564382 SNU1040_LARGE_I... 37 Frame_Shift_Del Del C - uc003xni.2 ADAM18_uc010lww... Hybrid_Cap...
ADAM22 p.G393R 7 87762210 87762210 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc003ujp.1 ADAM22_uc003ujk... Hybrid_Cap... view
ADAM22 p.Q574_splice 7 87778374 87778374 SNU1040_LARGE_I... 37 Splice_Site_SNP SNP T C uc003ujp.1 ADAM22_uc003ujk... Hybrid_Cap... view
ADAM22 p.W610* 7 87780628 87780628 SNU1040_LARGE_I... 37 Nonsense_Mutation SNP G A uc003ujp.1 ADAM22_uc003ujk... Hybrid_Cap... view
ADAM22 p.G744E 7 87792494 87792494 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc003ujp.1 ADAM22_uc003ujk... Hybrid_Cap... view
ADAM22 7 87825946 87825946 SNU1040_LARGE_I... 37 3'UTR SNP G A uc003ujn.2 ADAM22_uc003ujm... Hybrid_Cap... view
ADAM28 8 24211994 24211997 SNU1040_LARGE_I... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAM29 p.E179G 4 175897212 175897212 SNU1040_LARGE_I... 37 Missense_Mutation SNP A G uc003iuc.2 ADAM29_uc003iud... Hybrid_Cap... view
ADAM29 4 175899157 175899157 SNU1040_LARGE_I... 37 3'UTR SNP G A uc003iuc.2 ADAM29_uc003iud... Hybrid_Cap... view
ADAMTS18 p.F695fs 16 77356311 77356311 SNU1040_LARGE_I... 37 Frame_Shift_Del Del A - uc002ffc.3 ADAMTS18_uc010c... Hybrid_Cap...
ADAMTS2 p.W858C 5 178555003 178555003 SNU1040_LARGE_I... 37 Missense_Mutation SNP C A uc003mjw.2 Hybrid_Cap... view
ADAMTS2 p.Y832C 5 178555082 178555082 SNU1040_LARGE_I... 37 Missense_Mutation SNP T C uc003mjw.2 Hybrid_Cap... view
ADAMTS2 p.W567C 5 178566965 178566965 SNU1040_LARGE_I... 37 Missense_Mutation SNP C A uc003mjw.2 Hybrid_Cap... view
ADAMTS20 p.D1791G 12 43769256 43769256 SNU1040_LARGE_I... 37 Missense_Mutation SNP T C uc010skx.1 Hybrid_Cap... view
ADAMTS20 p.A402T 12 43862422 43862422 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc010skx.1 Hybrid_Cap... view
ADAMTSL3 p.S1277F 15 84657556 84657556 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc002bjz.3 ADAMTSL3_uc010b... Hybrid_Cap... view
ADAMTSL3 p.A1561D 15 84700112 84700112 SNU1040_LARGE_I... 37 Missense_Mutation SNP C A uc002bjz.3 ADAMTSL3_uc010b... Hybrid_Cap... view
ADAMTSL3 15 84705743 84705743 SNU1040_LARGE_I... 37 Intron SNP C T rs113972209 uc002bjz.3 ADAMTSL3_uc010b... Hybrid_Cap... view
ADAMTSL3 15 84706689 84706689 SNU1040_LARGE_I... 37 3'UTR SNP C T uc002bjz.3 ADAMTSL3_uc010b... Hybrid_Cap... view
ADCK4 p.R475W 19 41198152 41198152 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc002oor.2 NUMBL_uc010xvq.... Hybrid_Cap... view
ADCK4 p.D58G 19 41220232 41220232 SNU1040_LARGE_I... 37 Missense_Mutation SNP T C uc002oor.2 ADCK4_uc002ooq.... Hybrid_Cap... view
ADRBK1 p.G287R 11 67049325 67049325 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc009yrn.1 ADRBK1_uc009yrm... Hybrid_Cap... view
ADRBK2 22 26105959 26105959 SNU1040_LARGE_I... 37 Intron SNP C T uc003abx.3 ADRBK2_uc010gux... Hybrid_Cap... view
ADRBK2 22 26118510 26118510 SNU1040_LARGE_I... 37 3'UTR SNP C T uc003abx.3 ADRBK2_uc003aby... Hybrid_Cap... view
AFF3 2 100167832 100167832 SNU1040_LARGE_I... 37 3'UTR SNP G A uc002taf.2 AFF3_uc002tag.2... Hybrid_Cap... view
AFF3 p.A1108T 2 100175375 100175375 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc002taf.2 AFF3_uc002tag.2... Hybrid_Cap... view
AFF3 p.W1098* 2 100175403 100175403 SNU1040_LARGE_I... 37 Nonsense_Mutation SNP C T uc002taf.2 AFF3_uc002tag.2... Hybrid_Cap... view
AFF4 p.S271S 5 132269944 132269944 SNU1040_LARGE_I... 37 Silent SNP G T uc003kyd.2 AFF4_uc011cxk.1... Hybrid_Cap... view
AGAP2 p.R541H 12 58126690 58126690 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc001spq.2 AGAP2_uc001spp.... Hybrid_Cap... view
AIFM1 p.P335P X 129271123 129271123 SNU1040_LARGE_I... 37 Silent SNP G A uc004evg.2 AIFM1_uc011mur.... Hybrid_Cap... view
AIFM1 X 129271177 129271177 SNU1040_LARGE_I... 37 Intron SNP G T uc004evg.2 AIFM1_uc011mur.... Hybrid_Cap... view
AIM1 p.Y1324H 6 106992690 106992690 SNU1040_LARGE_I... 37 Missense_Mutation SNP T C uc003prh.2 AIM1_uc003pri.2... Hybrid_Cap... view
AIM1 p.A1718V 6 107016422 107016422 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc003prh.2 AIM1_uc003pri.2... Hybrid_Cap... view
AIM1 6 107016508 107016508 SNU1040_LARGE_I... 37 3'UTR SNP T C uc003prh.2 AIM1_uc003pri.2... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 SNU1040_LARGE_I... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP6 p.D1149G 14 33242957 33242957 SNU1040_LARGE_I... 37 Missense_Mutation SNP A G uc001wrq.2 Hybrid_Cap... view
AKAP6 p.A2271D 14 33293831 33293831 SNU1040_LARGE_I... 37 Missense_Mutation SNP C A uc001wrq.2 Hybrid_Cap... view
AKAP9 p.R649* 7 91631176 91631176 SNU1040_LARGE_I... 37 Nonsense_Mutation SNP C T uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap... view
AKAP9 7 91670249 91670249 SNU1040_LARGE_I... 37 Intron SNP T A uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap... view
AKAP9 p.M3743fs 7 91732039 91732039 SNU1040_LARGE_I... 37 Frame_Shift_Del Del G - uc003ulg.2 AKAP9_uc003ulf.... Hybrid_Cap...
AKT1 14 105236548 105236548 SNU1040_LARGE_I... 37 3'UTR SNP T G uc001ypk.2 INF2_uc010tyi.1... Hybrid_Cap... view
AKT1 p.V145M 14 105241991 105241991 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc001ypk.2 INF2_uc010tyi.1... Hybrid_Cap... view
AKT1 p.Q59* 14 105246425 105246425 SNU1040_LARGE_I... 37 Nonsense_Mutation SNP G A uc001ypk.2 INF2_uc010tyi.1... Hybrid_Cap... view
AKT2 19 40739722 40739722 SNU1040_LARGE_I... 37 3'UTR Del A - uc002onf.2 AKT2_uc010egs.2... Hybrid_Cap...
ALK p.A195V 2 30142942 30142942 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc002rmy.2 Hybrid_Cap... view
ALK p.R133H 2 30143128 30143128 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc002rmy.2 Hybrid_Cap... view
ALPK1 p.S169N 4 113345130 113345130 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc003iap.3 ALPK1_uc011cfw.... Hybrid_Cap... view
ALPK1 4 113347609 113347610 SNU1040_LARGE_I... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.G434E 18 56246707 56246707 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc002lhj.3 Hybrid_Cap... view
ALPK2 p.L356fs 18 56246941 56246941 SNU1040_LARGE_I... 37 Frame_Shift_Del Del A - uc002lhj.3 Hybrid_Cap...
AMHR2 p.A404T 12 53823684 53823684 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc001scx.1 AMHR2_uc009zmy.... Hybrid_Cap... view
ANAPC5 p.A504T 12 121758193 121758193 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc001uag.2 ANAPC5_uc010szu... Hybrid_Cap... view
ANAPC5 p.A377T 12 121766294 121766294 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc001uag.2 ANAPC5_uc010szu... Hybrid_Cap... view
APC p.E74_splice 5 112102109 112102109 SNU1040_LARGE_I... 37 Splice_Site_SNP SNP T C uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
APC p.Q188* 5 112116517 112116517 SNU1040_LARGE_I... 37 Nonsense_Mutation SNP C T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
APC p.R232* 5 112128191 112128191 SNU1040_LARGE_I... 37 Nonsense_Mutation SNP C T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
APC p.R414H 5 112154970 112154970 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
APC p.G430A 5 112155018 112155018 SNU1040_LARGE_I... 37 Missense_Mutation SNP G C uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
APC p.G2070D 5 112177500 112177500 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
APC p.K2248fs 5 112178033 112178033 SNU1040_LARGE_I... 37 Frame_Shift_Del Del A - uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap...
AR p.R775H X 66941680 66941680 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc004dwu.1 AR_uc004dwv.1_M... Hybrid_Cap... view
ARFGEF1 8 68117066 68117066 SNU1040_LARGE_I... 37 Intron Del C - uc003xxo.1 ARFGEF1_uc003xx... Hybrid_Cap...
ARHGAP26 p.H582Y 5 142513577 142513577 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc011dbj.1 ARHGAP26_uc003l... Hybrid_Cap... view
ARHGAP29 1 94643144 94643145 SNU1040_LARGE_I... 37 Intron Del TT - uc001dqj.3 ARHGAP29_uc009w... Hybrid_Cap...
ARHGAP29 1 94643154 94643154 SNU1040_LARGE_I... 37 Intron SNP A G uc001dqj.3 ARHGAP29_uc009w... Hybrid_Cap... view
ARHGDIB p.K95N 12 15100864 15100864 SNU1040_LARGE_I... 37 Missense_Mutation SNP T A uc001rcq.1 ARHGDIB_uc001rc... Hybrid_Cap... view
ARHGEF10 p.T764A 8 1871664 1871664 SNU1040_LARGE_I... 37 Missense_Mutation SNP A G uc003wpr.2 ARHGEF10_uc003w... Hybrid_Cap... view
ARHGEF10 8 1874766 1874766 SNU1040_LARGE_I... 37 Intron SNP A G uc003wpr.2 ARHGEF10_uc003w... Hybrid_Cap... view
ARHGEF7 13 111767871 111767871 SNU1040_LARGE_I... 37 5'UTR SNP G A uc001vrs.2 ARHGEF7_uc001vr... Hybrid_Cap... view
ARHGEF7 p.A391T 13 111926195 111926195 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc001vrs.2 ARHGEF7_uc001vr... Hybrid_Cap... view
ARHGEF7 p.R409C 13 111926249 111926249 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc001vrs.2 ARHGEF7_uc001vr... Hybrid_Cap... view
ARHGEF7 p.T577M 13 111932966 111932966 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc001vrs.2 ARHGEF7_uc001vr... Hybrid_Cap... view
ARHGEF7 p.T596_splice 13 111933025 111933025 SNU1040_LARGE_I... 37 Splice_Site_SNP SNP G A uc001vrs.2 ARHGEF7_uc001vr... Hybrid_Cap... view
ARHGEF7 p.A609T 13 111935522 111935522 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc001vrs.2 ARHGEF7_uc001vr... Hybrid_Cap... view
ARID1A p.R774C 1 27088711 27088711 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc001bmv.1 ARID1A_uc001bmt... Hybrid_Cap... view
ARID1A 1 27107263 27107264 SNU1040_LARGE_I... 37 3'UTR Ins - C rs3841356 uc001bmv.1 ARID1A_uc001bmu... Hybrid_Cap...
ARNT p.M115I 1 150812058 150812058 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc001evr.1 ARNT_uc001evs.1... Hybrid_Cap... view
ASH2L p.V102M 8 37964587 37964587 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc003xkt.3 ASH2L_uc011lbk.... Hybrid_Cap... view
ASPH p.K588_splice 8 62460628 62460628 SNU1040_LARGE_I... 37 Splice_Site_SNP SNP A G uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap... view
ASPH p.L549F 8 62460749 62460749 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap... view
ASPH p.S410G 8 62479799 62479799 SNU1040_LARGE_I... 37 Missense_Mutation SNP T C uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap... view
ASPH 8 62538655 62538655 SNU1040_LARGE_I... 37 Intron Del A - uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
ASTN1 p.G1051R 1 176853550 176853550 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc001glc.2 ASTN1_uc001glb.... Hybrid_Cap... view
ATF1 12 51213711 51213711 SNU1040_LARGE_I... 37 3'UTR SNP A G uc001rww.3 ATF1_uc010smu.1... Hybrid_Cap... view
ATF2 2 176001206 176001206 SNU1040_LARGE_I... 37 5'UTR SNP G A uc002ujl.2 ATF2_uc010fqv.2... Hybrid_Cap... view
ATM p.V2587M 11 108202735 108202735 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap... view
ATP10A p.T1254A 15 25925374 25925374 SNU1040_LARGE_I... 37 Missense_Mutation SNP T C uc010ayu.2 Hybrid_Cap... view
ATP10A p.R299C 15 25971182 25971182 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc010ayu.2 Hybrid_Cap... view
ATP10A p.D180Y 15 26026282 26026282 SNU1040_LARGE_I... 37 Missense_Mutation SNP C A uc010ayu.2 Hybrid_Cap... view
ATP11A p.T820A 13 113512171 113512171 SNU1040_LARGE_I... 37 Missense_Mutation SNP A G uc001vsj.3 ATP11A_uc001vsi... Hybrid_Cap... view
ATP11A 13 113536542 113536542 SNU1040_LARGE_I... 37 3'UTR SNP A G uc001vsj.3 ATP11A_uc001vsi... Hybrid_Cap... view
ATP13A5 p.Q926* 3 193016992 193016992 SNU1040_LARGE_I... 37 Nonsense_Mutation SNP G A uc011bsq.1 Hybrid_Cap... view
ATP8B1 p.N205fs 18 55365040 55365040 SNU1040_LARGE_I... 37 Frame_Shift_Del Del T - uc002lgw.2 Hybrid_Cap...
ATR 3 142168168 142168168 SNU1040_LARGE_I... 37 3'UTR SNP C T uc003eux.3 XRN1_uc003eus.2... Hybrid_Cap... view
AURKA p.R304W 20 54945660 54945660 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc002xxd.1 AURKA_uc002xxe.... Hybrid_Cap... view
AURKC 19 57742494 57742507 SNU1040_LARGE_I... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
AURKC p.R114C 19 57743953 57743953 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap... view
AXL p.R501H 19 41749577 41749577 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc010ehj.2 CYP2F1_uc010xvw... Hybrid_Cap... view
BAI1 p.R434H 8 143558824 143558824 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc003ywm.2 Hybrid_Cap... view
BAI1 p.A700V 8 143563041 143563041 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc003ywm.2 Hybrid_Cap... view
BAI3 p.A1092T 6 70048893 70048893 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BAT3 p.Q923H 6 31608644 31608644 SNU1040_LARGE_I... 37 Missense_Mutation SNP C A uc003nvg.3 BAT3_uc003nvf.3... Hybrid_Cap... view
BAT3 p.R900C 6 31608715 31608715 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc003nvg.3 BAT3_uc003nvf.3... Hybrid_Cap... view
BAX p.I31T 19 49458949 49458949 SNU1040_LARGE_I... 37 Missense_Mutation SNP T C uc002plf.1 BAX_uc002plg.1_... Hybrid_Cap... view
BAX p.M38fs 19 49458971 49458971 SNU1040_LARGE_I... 37 Frame_Shift_Del Del G - uc002plf.1 BAX_uc002plg.1_... Hybrid_Cap...
BCKDK p.R282* 16 31122539 31122539 SNU1040_LARGE_I... 37 Nonsense_Mutation SNP A T uc002eaw.3 BCKDK_uc002eav.... Hybrid_Cap... view
BCKDK p.A303T 16 31122682 31122682 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc002eaw.3 BCKDK_uc002eav.... Hybrid_Cap... view
BCL11A p.D129_splice 2 60773105 60773105 SNU1040_LARGE_I... 37 Splice_Site_SNP SNP C T uc002sae.1 BCL11A_uc002sab... Hybrid_Cap... view
BCL11B p.C798R 14 99640781 99640781 SNU1040_LARGE_I... 37 Missense_Mutation SNP A G uc001yga.2 BCL11B_uc001ygb... Hybrid_Cap... view
BCL2L11 p.R185* 2 111921764 111921764 SNU1040_LARGE_I... 37 Nonsense_Mutation SNP C T uc002tgv.1 BCL2L11_uc002tg... Hybrid_Cap... view
BCL3 p.G453D 19 45262865 45262865 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc010xxe.1 Hybrid_Cap... view
BCL6 p.A15V 3 187451438 187451438 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc003frp.3 BCL6_uc011bsf.1... Hybrid_Cap... view
BCL9 p.P514fs 1 147091501 147091501 SNU1040_LARGE_I... 37 Frame_Shift_Del Del C - uc001epq.2 BCL9_uc010ozr.1... Hybrid_Cap...
BCL9 p.R561C 1 147091642 147091642 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc001epq.2 BCL9_uc010ozr.1... Hybrid_Cap... view
BCL9 p.R620H 1 147091820 147091820 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc001epq.2 BCL9_uc010ozr.1... Hybrid_Cap... view
BCR 22 23632315 23632315 SNU1040_LARGE_I... 37 Intron SNP G A uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap... view
BIRC2 p.E440fs 11 102239231 102239232 SNU1040_LARGE_I... 37 Frame_Shift_Ins Ins - A uc001pgy.2 BIRC2_uc010ruq.... Hybrid_Cap...
BIRC3 p.R258H 11 102196013 102196013 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc001pgx.2 Hybrid_Cap... view
BIRC6 p.V236A 2 32613879 32613879 SNU1040_LARGE_I... 37 Missense_Mutation SNP T C uc010ezu.2 Hybrid_Cap... view
BIRC6 p.A2276V 2 32701387 32701387 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc010ezu.2 Hybrid_Cap... view
BIRC6 p.A4407V 2 32800298 32800298 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc010ezu.2 Hybrid_Cap... view
BLK p.Q292* 8 11414268 11414268 SNU1040_LARGE_I... 37 Nonsense_Mutation SNP C T uc003wty.2 BLK_uc003wtz.2_... Hybrid_Cap... view
BLM 15 91303326 91303327 SNU1040_LARGE_I... 37 Intron Del TT - uc002bpr.2 BLM_uc010uqh.1_... Hybrid_Cap...
BLM p.A1203V 15 91347446 91347446 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc002bpr.2 BLM_uc010uqh.1_... Hybrid_Cap... view
BMP4 p.V78I 14 54418709 54418709 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap... view
BMPR1A p.T391A 10 88681281 88681281 SNU1040_LARGE_I... 37 Missense_Mutation SNP A G uc001kdy.2 BMPR1A_uc001kdz... Hybrid_Cap... view
BMPR2 p.G177_splice 2 203379610 203379610 SNU1040_LARGE_I... 37 Splice_Site_SNP SNP G T uc002uzf.3 BMPR2_uc010ftr.... Hybrid_Cap... view
BRCA2 p.T3165N 13 32969063 32969063 SNU1040_LARGE_I... 37 Missense_Mutation SNP C A uc001uub.1 Hybrid_Cap... view
BRD3 9 136898677 136898677 SNU1040_LARGE_I... 37 3'UTR SNP C T uc004cew.2 Hybrid_Cap... view
BRD4 p.A1268V 19 15349771 15349771 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc002nar.2 Hybrid_Cap... view
BRD4 p.R1256W 19 15349886 15349886 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc002nar.2 Hybrid_Cap... view
BRIP1 p.R762C 17 59820469 59820469 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc002izk.1 BRIP1_uc002izl.... Hybrid_Cap... view
BTG1 12 92537706 92537707 SNU1040_LARGE_I... 37 3'UTR Del AT - rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
C9ORF96 p.W95C 9 136251466 136251466 SNU1040_LARGE_I... 37 Missense_Mutation SNP G T uc004cdk.2 C9orf96_uc004cd... Hybrid_Cap... view
C9ORF96 p.V291M 9 136262295 136262295 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc004cdk.2 C9orf96_uc004cd... Hybrid_Cap... view
CABC1 p.A347T 1 227170694 227170694 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap... view
CABC1 p.A558T 1 227174166 227174166 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap... view
CABC1 p.R611K 1 227174326 227174326 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap... view
CACNB2 10 18828721 18828722 SNU1040_LARGE_I... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAMK2G p.P561L 10 75576513 75576513 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc001jvv.1 CAMK2G_uc001jvm... Hybrid_Cap... view
CAMK2G p.R276C 10 75602269 75602269 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc001jvv.1 CAMK2G_uc001jvm... Hybrid_Cap... view
CAMK2G p.R67H 10 75613001 75613001 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc001jvv.1 CAMK2G_uc001jvm... Hybrid_Cap... view
CAMK4 p.A41A 5 110560304 110560304 SNU1040_LARGE_I... 37 Silent SNP G A uc011cvj.1 CAMK4_uc003kpf.... Hybrid_Cap... view
CAMKK2 12 121698287 121698287 SNU1040_LARGE_I... 37 Intron SNP G A uc001tzu.2 CAMKK2_uc001tzt... Hybrid_Cap... view
CARD10 p.V941A 22 37887804 37887804 SNU1040_LARGE_I... 37 Missense_Mutation SNP A G uc003asx.1 CARD10_uc003ast... Hybrid_Cap... view
CARS p.A555V 11 3039150 3039150 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc001lxf.2 CARS_uc001lxe.2... Hybrid_Cap... view
CARS p.D354G 11 3047998 3047998 SNU1040_LARGE_I... 37 Missense_Mutation SNP T C uc001lxf.2 CARS_uc001lxe.2... Hybrid_Cap... view
CARS p.R35H 11 3069153 3069153 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc001lxf.2 CARS_uc001lxe.2... Hybrid_Cap... view
CASC5 p.V871A 15 40914996 40914996 SNU1040_LARGE_I... 37 Missense_Mutation SNP T C uc010bbs.1 CASC5_uc010ucq.... Hybrid_Cap... view
CASC5 p.K1480fs 15 40916822 40916822 SNU1040_LARGE_I... 37 Frame_Shift_Del Del A - uc010bbs.1 CASC5_uc010ucq.... Hybrid_Cap...
CASK p.S403S X 41448792 41448792 SNU1040_LARGE_I... 37 Silent SNP G A uc004dfl.3 CASK_uc004dfj.3... Hybrid_Cap... view
CASP10 p.C350Y 2 202073919 202073919 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc002uxj.1 CASP10_uc002uxk... Hybrid_Cap... view
CASP2 p.R382* 7 143001793 143001793 SNU1040_LARGE_I... 37 Nonsense_Mutation SNP C T uc003wco.2 CASP2_uc003wcp.... Hybrid_Cap... view
CASP4 p.G319A 11 104817889 104817889 SNU1040_LARGE_I... 37 Missense_Mutation SNP C G uc001pid.1 CASP4_uc001pib.... Hybrid_Cap... view
CASP7 10 115485612 115485612 SNU1040_LARGE_I... 37 Intron SNP C T uc001lao.2 CASP7_uc001lam.... Hybrid_Cap... view
CASP9 p.V387V 1 15819528 15819528 SNU1040_LARGE_I... 37 Silent SNP G A uc001awn.2 CASP9_uc001awm.... Hybrid_Cap... view
CBFA2T3 p.A493A 16 88945861 88945861 SNU1040_LARGE_I... 37 Silent SNP G A uc002fmm.1 CBFA2T3_uc002fm... Hybrid_Cap... view
CCNA1 13 37006658 37006658 SNU1040_LARGE_I... 37 5'UTR SNP A G uc001uvr.3 CCNA1_uc010teo.... Hybrid_Cap... view
CCNA1 p.D124G 13 37011839 37011839 SNU1040_LARGE_I... 37 Missense_Mutation SNP A G uc001uvr.3 CCNA1_uc010teo.... Hybrid_Cap... view
CCNB1IP1 14 20779552 20779552 SNU1040_LARGE_I... 37 3'UTR Del T - uc001vwv.2 CCNB1IP1_uc001v... Hybrid_Cap...
CCND2 12 4383167 4383167 SNU1040_LARGE_I... 37 5'UTR SNP G A uc001qmo.2 Hybrid_Cap... view
CCND2 p.A278T 12 4409137 4409137 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc001qmo.2 Hybrid_Cap... view
CCNT1 12 49086804 49086805 SNU1040_LARGE_I... 37 3'UTR Ins - T uc001rse.1 LOC144438_uc001... Hybrid_Cap...
CD40 p.C143C 20 44751790 44751790 SNU1040_LARGE_I... 37 Silent SNP C T uc002xrg.1 CD40_uc002xrf.1... Hybrid_Cap... view
CD40LG X 135730406 135730406 SNU1040_LARGE_I... 37 5'UTR SNP G A uc004faa.2 CD40LG_uc010nsd... Hybrid_Cap... view
CD44 p.T726A 11 35250827 35250827 SNU1040_LARGE_I... 37 Missense_Mutation SNP A G uc001mvu.2 CD44_uc001mvv.2... Hybrid_Cap... view
CD79B p.R96C 17 62007581 62007581 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc002jdp.1 CD79B_uc002jdo.... Hybrid_Cap... view
CDC25A 3 48200388 48200388 SNU1040_LARGE_I... 37 3'UTR Del G - uc003csh.1 CDC25A_uc003csi... Hybrid_Cap...
CDC25A p.R446* 3 48200932 48200932 SNU1040_LARGE_I... 37 Nonsense_Mutation SNP T A uc003csh.1 CDC25A_uc003csi... Hybrid_Cap... view
CDC25C p.K322fs 5 137627690 137627690 SNU1040_LARGE_I... 37 Frame_Shift_Del Del T - uc003lcs.1 CDC25C_uc003lcp... Hybrid_Cap...
CDC42BPA p.K777E 1 227279613 227279613 SNU1040_LARGE_I... 37 Missense_Mutation SNP T C uc001hqr.2 CDC42BPA_uc001h... Hybrid_Cap... view
CDC42BPA p.G292R 1 227335080 227335080 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc001hqr.2 CDC42BPA_uc001h... Hybrid_Cap... view
CDC42BPB p.A1143V 14 103416123 103416123 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc001ymi.1 CDC42BPB_uc001y... Hybrid_Cap... view
CDC5L p.Q186fs 6 44371563 44371563 SNU1040_LARGE_I... 37 Frame_Shift_Del Del A - uc003oxl.2 Hybrid_Cap...
CDC5L p.R260fs 6 44374080 44374081 SNU1040_LARGE_I... 37 Frame_Shift_Ins Ins - A uc003oxl.2 Hybrid_Cap...
CDC7 p.R284C 1 91979532 91979532 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc001doe.2 CDC7_uc001dof.2... Hybrid_Cap... view
CDH1 p.E497K 16 68849586 68849586 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc002ewg.1 CDH1_uc010vlj.1... Hybrid_Cap... view
CDH1 p.R74* 16 68835629 68835629 SNU1040_LARGE_I... 37 Nonsense_Mutation SNP C T uc002ewg.1 CDH1_uc010vlj.1... Hybrid_Cap... view
CDH11 p.A711A 16 64981764 64981764 SNU1040_LARGE_I... 37 Silent SNP C T uc002eoi.2 CDH11_uc010cdn.... Hybrid_Cap... view
CDH11 p.Y702C 16 64981792 64981792 SNU1040_LARGE_I... 37 Missense_Mutation SNP T C uc002eoi.2 CDH11_uc010cdn.... Hybrid_Cap... view
CDH2 p.T288A 18 25583119 25583119 SNU1040_LARGE_I... 37 Missense_Mutation SNP T C uc002kwg.2 CDH2_uc010xbn.1... Hybrid_Cap... view
CDH3 p.V541A 16 68721466 68721466 SNU1040_LARGE_I... 37 Missense_Mutation SNP T C uc002ewf.2 CDH3_uc010vli.1... Hybrid_Cap... view
CDK10 p.A349V 16 89762063 89762063 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc010cio.2 CDK10_uc002fod.... Hybrid_Cap... view
CDK12 p.I506M 17 37627603 37627603 SNU1040_LARGE_I... 37 Missense_Mutation SNP A G uc010cvv.2 CDK12_uc010wef.... Hybrid_Cap... view
CDK12 p.P526H 17 37627662 37627662 SNU1040_LARGE_I... 37 Missense_Mutation SNP C A uc010cvv.2 CDK12_uc010wef.... Hybrid_Cap... view
CDK13 p.M767T 7 40041577 40041577 SNU1040_LARGE_I... 37 Missense_Mutation SNP T C uc003thh.3 CDK13_uc003thi.... Hybrid_Cap... view
CDK17 12 96674411 96674411 SNU1040_LARGE_I... 37 Intron SNP G A uc001tep.1 CDK17_uc009ztk.... Hybrid_Cap... view
CDK17 12 96674561 96674561 SNU1040_LARGE_I... 37 Intron SNP G A uc001tep.1 CDK17_uc009ztk.... Hybrid_Cap... view
CDK20 p.R218H 9 90584745 90584745 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc004apr.2 CDK20_uc004aps.... Hybrid_Cap... view
CDK8 p.P400L 13 26975691 26975691 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc001uqr.1 CDK8_uc001uqs.1... Hybrid_Cap... view
CDKL3 5 133541486 133541486 SNU1040_LARGE_I... 37 3'UTR SNP A G uc011cxm.1 PPP2CA_uc003kze... Hybrid_Cap... view
CDKL3 5 133643823 133643823 SNU1040_LARGE_I... 37 Intron SNP G T uc003kzf.3 CDKL3_uc011cxm.... Hybrid_Cap... view
CDKL3 p.G290E 5 133647995 133647995 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc003kzf.3 CDKL3_uc011cxm.... Hybrid_Cap... view
CDKL5 p.T554M X 18622705 18622705 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc004cym.2 CDKL5_uc004cyn.... Hybrid_Cap... view
CDKN2C 1 51440060 51440060 SNU1040_LARGE_I... 37 3'UTR SNP C T uc001csf.2 CDKN2C_uc001csg... Hybrid_Cap... view
CEP110 p.A852V 9 123903730 123903730 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc004bkx.1 CEP110_uc004bky... Hybrid_Cap... view
CEP110 p.R2242C 9 123935992 123935992 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc004bkx.1 CEP110_uc004blb... Hybrid_Cap... view
CEP110 p.A2250T 9 123937296 123937296 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc004bkx.1 CEP110_uc004blb... Hybrid_Cap... view
CHD1 p.L1550S 5 98194022 98194022 SNU1040_LARGE_I... 37 Missense_Mutation SNP A G uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap... view
CHD8 14 21853630 21853633 SNU1040_LARGE_I... 37 3'UTR Del TTTT - rs78520772;rs78304393 uc001was.1 CHD8_uc001war.1... Hybrid_Cap...
CHD8 p.N2092fs 14 21859176 21859176 SNU1040_LARGE_I... 37 Frame_Shift_Del Del T - uc001was.1 CHD8_uc001war.1... Hybrid_Cap...
CHD8 p.R1777W 14 21861788 21861788 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc001was.1 CHD8_uc001war.1... Hybrid_Cap... view
CHD8 p.R1500C 14 21863126 21863126 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc001was.1 CHD8_uc001war.1... Hybrid_Cap... view
CHD8 p.P32S 14 21897407 21897407 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc001was.1 CHD8_uc001war.1... Hybrid_Cap... view
CHD9 p.Y1225C 16 53283791 53283791 SNU1040_LARGE_I... 37 Missense_Mutation SNP A G uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CHD9 p.R2262C 16 53341596 53341596 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CHD9 p.R483* 16 53191448 53191448 SNU1040_LARGE_I... 37 Nonsense_Mutation SNP C T uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CHD9 p.H758fs 16 53263000 53263000 SNU1040_LARGE_I... 37 Frame_Shift_Del Del T - uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap...
CHD9 p.V775A 16 53265368 53265368 SNU1040_LARGE_I... 37 Missense_Mutation SNP T C uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CHEK1 p.A116T 11 125499183 125499183 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc009zbo.2 CHEK1_uc010sbh.... Hybrid_Cap... view
CHIC2 p.W102C 4 54915146 54915146 SNU1040_LARGE_I... 37 Missense_Mutation SNP C A uc003haj.1 PDGFRA_uc003haa... Hybrid_Cap... view
CHL1 p.T531A 3 407638 407638 SNU1040_LARGE_I... 37 Missense_Mutation SNP A G uc003bot.2 CHL1_uc003bou.2... Hybrid_Cap... view
CHRNA5 p.R248C 15 78882475 78882475 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc002bdy.2 CHRNA5_uc002bdz... Hybrid_Cap... view
CHUK p.V211A 10 101978822 101978822 SNU1040_LARGE_I... 37 Missense_Mutation SNP A G uc001kqp.2 Hybrid_Cap... view
CIC p.A1014V 19 42796484 42796484 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc002otf.1 Hybrid_Cap... view
CIC p.P1102L 19 42796847 42796847 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc002otf.1 Hybrid_Cap... view
CIITA p.A804V 16 11001757 11001757 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc002daj.3 CIITA_uc002dai.... Hybrid_Cap... view
CIT p.N1498D 12 120151095 120151095 SNU1040_LARGE_I... 37 Missense_Mutation SNP T C uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap... view
CLK4 p.R2W 5 178050414 178050414 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc003mjf.1 CLK4_uc003mjg.1... Hybrid_Cap... view
CLP1 p.A138T 11 57427360 57427360 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc001nkw.2 CLP1_uc010rjw.1... Hybrid_Cap... view
CLPTM1 p.R568W 19 45495637 45495637 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc002pai.2 CLPTM1_uc010xxf... Hybrid_Cap... view
CLTC p.T122M 17 57724861 57724861 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc002ixr.1 CLTC_uc002ixp.2... Hybrid_Cap... view
CLTC p.L571I 17 57743518 57743518 SNU1040_LARGE_I... 37 Missense_Mutation SNP C A uc002ixr.1 CLTC_uc002ixp.2... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 SNU1040_LARGE_I... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNBP 3 128889280 128889280 SNU1040_LARGE_I... 37 3'UTR SNP C T uc003elq.3 CNBP_uc003elr.3... Hybrid_Cap... view
CNBP p.S47F 3 128890366 128890366 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc003elq.3 CNBP_uc003elr.3... Hybrid_Cap... view
CNTN5 p.V894I 11 100179150 100179150 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc001pga.2 CNTN5_uc001pfz.... Hybrid_Cap... view
CNTN6 p.T612I 3 1415336 1415336 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc003boz.2 CNTN6_uc011asj.... Hybrid_Cap... view
CNTN6 p.T955A 3 1444047 1444047 SNU1040_LARGE_I... 37 Missense_Mutation SNP A G uc003boz.2 CNTN6_uc011asj.... Hybrid_Cap... view
CNTN6 3 1445103 1445103 SNU1040_LARGE_I... 37 3'UTR SNP T C uc003boz.2 CNTN6_uc011asj.... Hybrid_Cap... view
COL14A1 p.G1181D 8 121292234 121292234 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc003yox.2 COL14A1_uc003yo... Hybrid_Cap... view
COL14A1 p.E1240fs 8 121293192 121293193 SNU1040_LARGE_I... 37 Frame_Shift_Ins Ins - A uc003yox.2 COL14A1_uc003yo... Hybrid_Cap...
COL14A1 p.T1390M 8 121301938 121301938 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc003yox.2 COL14A1_uc003yo... Hybrid_Cap... view
COL18A1 p.G1589G 21 46930013 46930013 SNU1040_LARGE_I... 37 Silent SNP C T uc011afs.1 COL18A1_uc002zh... Hybrid_Cap... view
COL18A1 p.V748M 21 46897393 46897393 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc011afs.1 COL18A1_uc002zh... Hybrid_Cap... view
COL1A1 p.R1356C 17 48263321 48263321 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc002iqm.2 Hybrid_Cap... view
COL4A3BP p.T337A 5 74715220 74715220 SNU1040_LARGE_I... 37 Missense_Mutation SNP T C uc003kdt.2 COL4A3BP_uc011c... Hybrid_Cap... view
CPAMD8 p.S447P 19 17104294 17104294 SNU1040_LARGE_I... 37 Missense_Mutation SNP A G uc002nfb.2 Hybrid_Cap... view
CPNE5 p.S168P 6 36759836 36759836 SNU1040_LARGE_I... 37 Missense_Mutation SNP A G uc003omr.1 CPNE5_uc003oms.... Hybrid_Cap... view
CPNE5 p.R93C 6 36767754 36767754 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc003omr.1 CPNE5_uc003oms.... Hybrid_Cap... view
CPNE5 p.R78H 6 36767798 36767798 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc003omr.1 CPNE5_uc003oms.... Hybrid_Cap... view
CREBBP p.P1546H 16 3786128 3786128 SNU1040_LARGE_I... 37 Missense_Mutation SNP G T uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CREBBP p.V1405A 16 3789645 3789645 SNU1040_LARGE_I... 37 Missense_Mutation SNP A G uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CREBBP p.R1169H 16 3807913 3807913 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CREBBP p.R1091H 16 3808952 3808952 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CRP 1 159683270 159683270 SNU1040_LARGE_I... 37 3'UTR SNP C T uc001ftw.2 CRP_uc001ftx.1_... Hybrid_Cap... view
CSF1R p.R390G 5 149450049 149450049 SNU1040_LARGE_I... 37 Missense_Mutation SNP T C uc003lrl.2 CSF1R_uc011dcd.... Hybrid_Cap... view
CSF3R p.A859V 1 36931974 36931974 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc001cax.1 MRPS15_uc001cas... Hybrid_Cap... view
CSK p.A317T 15 75094097 75094097 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc010bkb.1 CSK_uc002ays.2_... Hybrid_Cap... view
CSMD3 p.Y3197C 8 113277738 113277738 SNU1040_LARGE_I... 37 Missense_Mutation SNP T C uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 p.A2814V 8 113308235 113308235 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 8 113323092 113323092 SNU1040_LARGE_I... 37 Intron SNP A G uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 p.R1889I 8 113418896 113418896 SNU1040_LARGE_I... 37 Missense_Mutation SNP C A uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 p.Y1346H 8 113585736 113585736 SNU1040_LARGE_I... 37 Missense_Mutation SNP A G uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 p.G1224D 8 113649090 113649090 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 p.T45A 8 114448951 114448951 SNU1040_LARGE_I... 37 Missense_Mutation SNP T C uc003ynu.2 CSMD3_uc011lhx.... Hybrid_Cap... view
CSMD3 p.M1V 8 114449083 114449083 SNU1040_LARGE_I... 37 Missense_Mutation SNP T C uc003ynu.2 CSMD3_uc011lhx.... Hybrid_Cap... view
CSNK1D p.R115H 17 80211113 80211113 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc002kef.2 SLC16A3_uc002ke... Hybrid_Cap... view
CSNK1D p.C241R 17 80210325 80210325 SNU1040_LARGE_I... 37 Missense_Mutation SNP A G uc002kef.2 SLC16A3_uc002ke... Hybrid_Cap... view
CSNK1G2 p.R292H 19 1979515 1979515 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc002lul.3 CSNK1G2_uc010ds... Hybrid_Cap... view
CSNK1G2 p.R413* 19 1980191 1980191 SNU1040_LARGE_I... 37 Nonsense_Mutation SNP C T uc002lul.3 CSNK1G2_uc010ds... Hybrid_Cap... view
CSNK1G3 p.K198N 5 122911578 122911578 SNU1040_LARGE_I... 37 Missense_Mutation SNP G T uc003ktl.2 CSNK1G3_uc003kt... Hybrid_Cap... view
CSNK2A1 p.S311P 20 468113 468113 SNU1040_LARGE_I... 37 Missense_Mutation SNP A G uc002wdw.1 CSNK2A1_uc002wd... Hybrid_Cap... view
CSPG4 p.S299F 15 75982510 75982510 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc002baw.2 Hybrid_Cap... view
CSPG4 p.R261W 15 75982625 75982625 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc002baw.2 Hybrid_Cap... view
CSPP1 p.L604P 8 68044209 68044209 SNU1040_LARGE_I... 37 Missense_Mutation SNP T C uc003xxi.2 CSPP1_uc003xxg.... Hybrid_Cap... view
CTBP1 p.D106N 4 1222011 1222011 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc003gcv.1 CTBP1_uc003gct.... Hybrid_Cap... view
CTBP2 p.A200V 10 126715730 126715730 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap... view
CTBP2 p.T42M 10 126716204 126716204 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap... view
CTBP2 p.A19D 10 126716273 126716273 SNU1040_LARGE_I... 37 Missense_Mutation SNP G T uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap... view
CTNNA2 p.V39A 2 79971526 79971526 SNU1040_LARGE_I... 37 Missense_Mutation SNP T C uc010ysh.1 CTNNA2_uc010yse... Hybrid_Cap... view
CTNNB1 p.A135V 3 41266607 41266607 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc010hia.1 CTNNB1_uc003ckp... Hybrid_Cap... view
CTSL2 p.A143V 9 99798998 99798998 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc004awt.2 CTSL2_uc010msi.... Hybrid_Cap... view
CTSS p.A14V 1 150737199 150737199 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc001evn.2 CTSS_uc010pcj.1... Hybrid_Cap... view
CUBN 10 16866923 16866923 SNU1040_LARGE_I... 37 3'UTR SNP T C uc001ioo.2 Hybrid_Cap... view
CUBN p.E3443K 10 16877048 16877048 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc001ioo.2 Hybrid_Cap... view
CUBN p.T1277_splice 10 17085824 17085824 SNU1040_LARGE_I... 37 Splice_Site_SNP SNP A G uc001ioo.2 Hybrid_Cap... view
CUBN p.T55M 10 17171208 17171208 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc001ioo.2 Hybrid_Cap... view
CXCR4 p.R239C 2 136872795 136872795 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc002tuy.2 CXCR4_uc010fnk.... Hybrid_Cap... view
CYB5R4 p.A521T 6 84669592 84669592 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc003pkf.2 Hybrid_Cap... view
CYCS 7 25163251 25163251 SNU1040_LARGE_I... 37 3'UTR SNP A G uc003sxl.2 Hybrid_Cap... view
CYFIP1 15 22956318 22956318 SNU1040_LARGE_I... 37 Intron SNP C T uc001yus.2 CYFIP1_uc001yut... Hybrid_Cap... view
CYLD p.E798K 16 50827498 50827498 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc002egp.1 CYLD_uc010cbs.1... Hybrid_Cap... view
CYP17A1 p.A130T 10 104595059 104595059 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc001kwg.2 Hybrid_Cap... view
CYP17A1 p.A113T 10 104595110 104595110 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc001kwg.2 Hybrid_Cap... view
CYP19A1 p.A165D 15 51514680 51514680 SNU1040_LARGE_I... 37 Missense_Mutation SNP G T uc001zyz.3 CYP19A1_uc001zz... Hybrid_Cap... view
CYP1A2 p.R355W 15 75044485 75044485 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc002ayr.1 Hybrid_Cap... view
CYP1A2 p.L368S 15 75044525 75044525 SNU1040_LARGE_I... 37 Missense_Mutation SNP T C uc002ayr.1 Hybrid_Cap... view
CYP1B1 p.V241A 2 38301810 38301810 SNU1040_LARGE_I... 37 Missense_Mutation SNP A G uc002rqo.2 Hybrid_Cap... view
CYP2B6 p.P368S 19 41518340 41518340 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc002opr.1 CYP2A7_uc002opo... Hybrid_Cap... view
CYSLTR2 p.S337R 13 49281964 49281964 SNU1040_LARGE_I... 37 Missense_Mutation SNP T A uc010acx.1 CYSLTR2_uc010ac... Hybrid_Cap... view
DAB1 p.P424L 1 57480729 57480729 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc001cys.1 DAB1_uc001cyt.1... Hybrid_Cap... view
DAB1 p.A146V 1 57537957 57537957 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc001cys.1 DAB1_uc001cyt.1... Hybrid_Cap... view
DAB1 p.Y42C 1 57611045 57611045 SNU1040_LARGE_I... 37 Missense_Mutation SNP T C uc001cys.1 DAB1_uc001cyt.1... Hybrid_Cap... view
DACH1 p.K343E 13 72204787 72204787 SNU1040_LARGE_I... 37 Missense_Mutation SNP T C uc010thn.1 DACH1_uc010tho.... Hybrid_Cap... view
DAPK1 p.R302Q 9 90256960 90256960 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc004apc.2 DAPK1_uc004ape.... Hybrid_Cap... view
DAPK1 9 90265157 90265157 SNU1040_LARGE_I... 37 Intron SNP G A uc004apc.2 DAPK1_uc004ape.... Hybrid_Cap... view
DAPK2 p.V199M 15 64222643 64222643 SNU1040_LARGE_I... 37 Missense_Mutation SNP C T uc002amr.2 DAPK2_uc010uim.... Hybrid_Cap... view
DAPK3 p.R156* 19 3964329 3964329 SNU1040_LARGE_I... 37 Nonsense_Mutation SNP G A uc002lzc.1 DAPK3_uc002lzb.... Hybrid_Cap... view
DBF4 p.S226I 7 87526651 87526651 SNU1040_LARGE_I... 37 Missense_Mutation SNP G T uc003ujf.1 DBF4_uc003ujh.1... Hybrid_Cap... view
DBN1 p.R134W 5 176894565 176894565 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc003mgx.2 DBN1_uc003mgy.2... Hybrid_Cap... view
DCLK1 p.Q321H 13 36428708 36428708 SNU1040_LARGE_I... 37 Missense_Mutation SNP C A uc001uvf.2 DCLK1_uc001uve.... Hybrid_Cap... view
DCLK2 p.G383S 4 151141894 151141894 SNU1040_LARGE_I... 37 Missense_Mutation SNP G A uc003ilo.3 DCLK2_uc003ilm.... Hybrid_Cap... view
DDR1