Annotation Summary for Cell Line: KM12  

Cell line primary name: KM12
Cell line aliases:
Gender:
Site Primary: large_intestine
Histology: carcinoma
Hist Subtype1: adenocarcinoma
Notes:
Source: Academic Lab
Expression arrays: PARES_p_NCLE_RNA_Redo_HG-U133_Plus_2_D03_257674
SNP arrays: ARLES_p_NCLE_DNAAffy2_S_GenomeWideSNP_6_D03_256078
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in KM12

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 KM12_LARGE_INTE... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABCA3 p.G37E 16 2376220 2376220 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc002cpy.1 ABCA3_uc010bsk.... Hybrid_Cap... view
ABCC3 p.R1431K 17 48764908 48764908 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc002isl.2 ABCC3_uc002isn.... Hybrid_Cap... view
ABCC3 17 48768711 48768711 KM12_LARGE_INTE... 37 3'UTR SNP T C uc002isl.2 ABCC3_uc002isn.... Hybrid_Cap... view
ABCC4 p.K515_splice 13 95838954 95838954 KM12_LARGE_INTE... 37 Splice_Site_SNP SNP C T uc001vmd.3 ABCC4_uc010afk.... Hybrid_Cap... view
ABCC4 p.F214L 13 95861833 95861833 KM12_LARGE_INTE... 37 Missense_Mutation SNP A G uc001vmd.3 ABCC4_uc010afk.... Hybrid_Cap... view
ABCC4 p.I150T 13 95886946 95886946 KM12_LARGE_INTE... 37 Missense_Mutation SNP A G uc001vmd.3 ABCC4_uc010afk.... Hybrid_Cap... view
ABI1 10 27037488 27037488 KM12_LARGE_INTE... 37 3'UTR Del A - rs75446996 uc001isx.2 ABI1_uc001ite.2... Hybrid_Cap...
ABL2 1 179086420 179086420 KM12_LARGE_INTE... 37 Intron Del A - uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap...
ACACB p.P535S 12 109617058 109617058 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc001tob.2 ACACB_uc001toc.... Hybrid_Cap... view
ACOXL 2 111721266 111721266 KM12_LARGE_INTE... 37 Intron SNP A C uc010yxk.1 ACOXL_uc010fkc.... Hybrid_Cap... view
ACVR1B p.E115K 12 52370122 52370122 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc010snn.1 ACVR1B_uc001rzl... Hybrid_Cap... view
ACVR1C 2 158390344 158390344 KM12_LARGE_INTE... 37 3'UTR Del A - uc002tzk.3 ACVR1C_uc002tzl... Hybrid_Cap...
ACVR2A p.K435fs 2 148683686 148683686 KM12_LARGE_INTE... 37 Frame_Shift_Del Del A - uc002twg.2 ACVR2A_uc010zbn... Hybrid_Cap...
ACVRL1 p.S5fs 12 52306272 52306272 KM12_LARGE_INTE... 37 Frame_Shift_Del Del C - uc001rzj.2 ACVRL1_uc001rzk... Hybrid_Cap...
ADAM17 2 9630245 9630245 KM12_LARGE_INTE... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 KM12_LARGE_INTE... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAM29 p.K273E 4 175897493 175897493 KM12_LARGE_INTE... 37 Missense_Mutation SNP A G uc003iuc.2 ADAM29_uc003iud... Hybrid_Cap... view
ADAM29 4 175899313 175899313 KM12_LARGE_INTE... 37 3'UTR Del A - uc003iuc.2 ADAM29_uc003iud... Hybrid_Cap...
ADAMTS18 p.P1049L 16 77327016 77327016 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc002ffc.3 ADAMTS18_uc010c... Hybrid_Cap... view
ADAMTS19 p.T262A 5 128844824 128844824 KM12_LARGE_INTE... 37 Missense_Mutation SNP A G uc003kvb.1 ADAMTS19_uc003k... Hybrid_Cap... view
ADK p.S226S 10 76285136 76285136 KM12_LARGE_INTE... 37 Silent SNP A G uc001jwi.2 ADK_uc010qlb.1_... Hybrid_Cap... view
AKAP12 p.S1129N 6 151672912 151672912 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 KM12_LARGE_INTE... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK1 4 113347609 113347610 KM12_LARGE_INTE... 37 Intron Ins - TT rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 KM12_LARGE_INTE... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
APBB1IP p.S25_splice 10 26785232 26785232 KM12_LARGE_INTE... 37 Splice_Site_SNP SNP G T uc001iss.2 APBB1IP_uc001is... Hybrid_Cap... view
APC p.G471E 5 112162808 112162808 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
APC p.L1816fs 5 112176739 112176740 KM12_LARGE_INTE... 37 Frame_Shift_Ins Ins - A uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap...
ARHGAP29 1 94643144 94643144 KM12_LARGE_INTE... 37 Intron Del T - uc001dqj.3 ARHGAP29_uc009w... Hybrid_Cap...
ARHGEF7 p.P20fs 13 111767933 111767934 KM12_LARGE_INTE... 37 Frame_Shift_Ins Ins - A uc001vrs.2 ARHGEF7_uc001vr... Hybrid_Cap...
ARID1A p.Q561H 1 27057975 27057975 KM12_LARGE_INTE... 37 Missense_Mutation SNP G C uc001bmv.1 ARID1A_uc001bmt... Hybrid_Cap... view
ARID1A p.G1847fs 1 27105930 27105931 KM12_LARGE_INTE... 37 Frame_Shift_Ins Ins - G uc001bmv.1 ARID1A_uc001bmu... Hybrid_Cap...
ASTN1 p.P1144S 1 176845706 176845706 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc001glc.2 ASTN1_uc001glb.... Hybrid_Cap... view
ATF1 p.I67F 12 51203243 51203243 KM12_LARGE_INTE... 37 Missense_Mutation SNP A T uc001rww.3 ATF1_uc010smu.1... Hybrid_Cap... view
ATIC p.C241Y 2 216197138 216197138 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc002vex.3 ATIC_uc010zjo.1... Hybrid_Cap... view
ATM p.Q2762R 11 108213965 108213965 KM12_LARGE_INTE... 37 Missense_Mutation SNP A G uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap... view
AXIN1 p.P264fs 16 396234 396234 KM12_LARGE_INTE... 37 Frame_Shift_Del Del G - uc002cgp.1 AXIN1_uc002cgq.... Hybrid_Cap...
AXIN1 p.E640fs 16 347093 347093 KM12_LARGE_INTE... 37 Frame_Shift_Del Del C - uc002cgp.1 AXIN1_uc002cgq.... Hybrid_Cap...
AXIN1 16 337965 337965 KM12_LARGE_INTE... 37 3'UTR Del C - uc002cgp.1 AXIN1_uc002cgq.... Hybrid_Cap...
AXL p.G335fs 19 41744385 41744385 KM12_LARGE_INTE... 37 Frame_Shift_Del Del C - uc010ehj.2 CYP2F1_uc010xvw... Hybrid_Cap...
BAX p.M38fs 19 49458971 49458971 KM12_LARGE_INTE... 37 Frame_Shift_Del Del G - uc002plf.1 BAX_uc002plg.1_... Hybrid_Cap...
BCKDK p.Q56* 16 31120710 31120710 KM12_LARGE_INTE... 37 Nonsense_Mutation SNP C T uc002eaw.3 BCKDK_uc002eav.... Hybrid_Cap... view
BCL10 p.T91fs 1 85736375 85736376 KM12_LARGE_INTE... 37 Frame_Shift_Ins Ins - T uc001dkz.2 Hybrid_Cap...
BCL11B p.L183fs 14 99697775 99697775 KM12_LARGE_INTE... 37 Frame_Shift_Del Del G - uc001yga.2 BCL11B_uc001ygb... Hybrid_Cap...
BCL2L2 14 23778211 23778211 KM12_LARGE_INTE... 37 3'UTR SNP G A uc001wjg.3 PABPN1_uc001wjh... Hybrid_Cap... view
BCL9 p.P514fs 1 147091501 147091501 KM12_LARGE_INTE... 37 Frame_Shift_Del Del C - uc001epq.2 BCL9_uc010ozr.1... Hybrid_Cap...
BCR 22 23632777 23632778 KM12_LARGE_INTE... 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BIRC6 p.R4400P 2 32800277 32800277 KM12_LARGE_INTE... 37 Missense_Mutation SNP G C uc010ezu.2 Hybrid_Cap... view
BLNK 10 97951715 97951715 KM12_LARGE_INTE... 37 3'UTR Del T - uc001kls.3 BLNK_uc001kme.3... Hybrid_Cap...
BLNK p.S81L 10 97987285 97987285 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc001kls.3 BLNK_uc001kme.3... Hybrid_Cap... view
BMPR1A p.R254C 10 88676975 88676975 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc001kdy.2 Hybrid_Cap... view
BMPR2 p.E456fs 2 203407124 203407124 KM12_LARGE_INTE... 37 Frame_Shift_Del Del A - uc002uzf.3 BMPR2_uc010ftr.... Hybrid_Cap...
BMPR2 p.E581fs 2 203420130 203420130 KM12_LARGE_INTE... 37 Frame_Shift_Del Del A - uc002uzf.3 BMPR2_uc010ftr.... Hybrid_Cap...
BRAF p.A712T 7 140434564 140434564 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc003vwc.3 Hybrid_Cap... view
BRCA2 p.Q1782fs 13 32913837 32913837 KM12_LARGE_INTE... 37 Frame_Shift_Del Del A - uc001uub.1 Hybrid_Cap...
BRD4 p.W120* 19 15379780 15379780 KM12_LARGE_INTE... 37 Nonsense_Mutation SNP C T uc002nar.2 BRD4_uc002nas.2... Hybrid_Cap... view
BRDT p.L441F 1 92446221 92446221 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc010osz.1 BRDT_uc001dok.3... Hybrid_Cap... view
BTRC p.P592fs 10 103310573 103310573 KM12_LARGE_INTE... 37 Frame_Shift_Del Del C - uc001kta.2 BTRC_uc001ktb.2... Hybrid_Cap...
BUB1 2 111395468 111395468 KM12_LARGE_INTE... 37 3'UTR Del A - uc002tgc.2 BUB1_uc010yxh.1... Hybrid_Cap...
C15ORF2 p.A1086V 15 24924271 24924271 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc001ywo.2 Hybrid_Cap... view
C9ORF96 p.R246H 9 136260761 136260761 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc004cdk.2 C9orf96_uc004cd... Hybrid_Cap... view
CAD p.P114L 2 27444204 27444204 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc002rji.2 CAD_uc010eyw.2_... Hybrid_Cap... view
CASP2 p.F446L 7 143002141 143002141 KM12_LARGE_INTE... 37 Missense_Mutation SNP T C uc003wco.2 CASP2_uc003wcp.... Hybrid_Cap... view
CASP4 11 104839324 104839324 KM12_LARGE_INTE... 37 5'UTR SNP A T uc001pid.1 CASP4_uc009yxg.... Hybrid_Cap... view
CASP8 2 202151350 202151350 KM12_LARGE_INTE... 37 3'UTR Del T - uc002uxt.1 CASP8_uc002uxp.... Hybrid_Cap...
CBL 11 119170569 119170569 KM12_LARGE_INTE... 37 3'UTR SNP A C uc001pwe.2 Hybrid_Cap... view
CD79B 17 62006575 62006575 KM12_LARGE_INTE... 37 3'UTR SNP C T uc002jdp.1 CD79B_uc002jdo.... Hybrid_Cap... view
CDC42BPA 1 227181938 227181938 KM12_LARGE_INTE... 37 3'UTR SNP G A uc001hqr.2 CDC42BPA_uc001h... Hybrid_Cap... view
CDC42BPA p.R835* 1 227262043 227262043 KM12_LARGE_INTE... 37 Nonsense_Mutation SNP G A uc001hqr.2 CDC42BPA_uc001h... Hybrid_Cap... view
CDC42BPG p.A591S 11 64603081 64603081 KM12_LARGE_INTE... 37 Missense_Mutation SNP C A uc001obs.3 Hybrid_Cap... view
CDH11 p.R748K 16 64981654 64981654 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc002eoi.2 CDH11_uc010cdn.... Hybrid_Cap... view
CDH3 p.M822V 16 68732277 68732277 KM12_LARGE_INTE... 37 Missense_Mutation SNP A G uc002ewf.2 CDH3_uc010vli.1... Hybrid_Cap... view
CDK1 10 62545585 62545585 KM12_LARGE_INTE... 37 Intron SNP G A uc001jld.2 CDK1_uc010qii.1... Hybrid_Cap... view
CDK20 p.P229_splice 9 90584710 90584710 KM12_LARGE_INTE... 37 Splice_Site_SNP SNP C T uc004apr.2 CDK20_uc004aps.... Hybrid_Cap... view
CDKL3 5 133541527 133541527 KM12_LARGE_INTE... 37 3'UTR SNP G A uc011cxm.1 PPP2CA_uc003kze... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 KM12_LARGE_INTE... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHD9 16 53358902 53358902 KM12_LARGE_INTE... 37 3'UTR SNP A G uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CHD9 p.H758fs 16 53263000 53263000 KM12_LARGE_INTE... 37 Frame_Shift_Del Del T - uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap...
CHEK1 p.E223fs 11 125505377 125505378 KM12_LARGE_INTE... 37 Frame_Shift_Ins Ins - A rs35817404 uc009zbo.2 CHEK1_uc010sbh.... Hybrid_Cap...
CHEK2 p.V152A 22 29121349 29121349 KM12_LARGE_INTE... 37 Missense_Mutation SNP A G uc003adt.1 CHEK2_uc003ads.... Hybrid_Cap... view
CIT p.D463N 12 120222778 120222778 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap... view
CIT p.A304V 12 120263015 120263015 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc001txj.1 CIT_uc001txi.1_... Hybrid_Cap... view
CLK2 p.E213A 1 155237834 155237834 KM12_LARGE_INTE... 37 Missense_Mutation SNP T G uc001fjy.2 RAG1AP1_uc010pe... Hybrid_Cap... view
CLTCL1 p.E1605G 22 19170916 19170916 KM12_LARGE_INTE... 37 Missense_Mutation SNP T C uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 KM12_LARGE_INTE... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 p.W956* 22 19207445 19207445 KM12_LARGE_INTE... 37 Nonsense_Mutation SNP C T uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap... view
CLTCL1 p.F252fs 22 19226837 19226837 KM12_LARGE_INTE... 37 Frame_Shift_Del Del A - uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN1 p.V669M 12 41386963 41386963 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc001rmm.1 CNTN1_uc001rmn.... Hybrid_Cap... view
CNTN5 p.V866M 11 100170104 100170104 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc001pga.2 CNTN5_uc001pfz.... Hybrid_Cap... view
CNTN6 p.P255S 3 1363335 1363335 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc003boz.2 CNTN6_uc011asj.... Hybrid_Cap... view
CNTN6 p.V415fs 3 1371500 1371501 KM12_LARGE_INTE... 37 Frame_Shift_Ins Ins - A uc003boz.2 CNTN6_uc011asj.... Hybrid_Cap...
CNTN6 3 1445212 1445212 KM12_LARGE_INTE... 37 3'UTR Del A - rs74788015 uc003boz.2 CNTN6_uc011asj.... Hybrid_Cap...
COL1A1 p.G287C 17 48273889 48273889 KM12_LARGE_INTE... 37 Missense_Mutation SNP C A rs72645340 uc002iqm.2 Hybrid_Cap... view
CREBBP p.R1664C 16 3781375 3781375 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CSMD3 p.K3381fs 8 113259327 113259328 KM12_LARGE_INTE... 37 Frame_Shift_Ins Ins - T uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap...
CSMD3 8 114031221 114031221 KM12_LARGE_INTE... 37 Intron SNP C A uc003ynu.2 CSMD3_uc003ynt.... Hybrid_Cap... view
CSNK1G3 p.G46fs 5 122881495 122881495 KM12_LARGE_INTE... 37 Frame_Shift_Del Del A - uc003ktl.2 CSNK1G3_uc003kt... Hybrid_Cap...
CSPG4 15 75967834 75967834 KM12_LARGE_INTE... 37 3'UTR SNP C T uc002baw.2 Hybrid_Cap... view
CSPG4 p.A1526fs 15 75975255 75975256 KM12_LARGE_INTE... 37 Frame_Shift_Ins Ins - C uc002baw.2 Hybrid_Cap...
CTNNB1 3 41278277 41278280 KM12_LARGE_INTE... 37 Intron Del ACTT - uc010hia.1 CTNNB1_uc003ckp... Hybrid_Cap...
CYB5R4 p.Q245fs 6 84634231 84634231 KM12_LARGE_INTE... 37 Frame_Shift_Del Del A - uc003pkf.2 Hybrid_Cap...
CYP24A1 p.E181_splice 20 52788115 52788115 KM12_LARGE_INTE... 37 Splice_Site_SNP SNP C T uc002xwv.2 CYP24A1_uc002xw... Hybrid_Cap... view
DAPK1 p.A40T 9 90219924 90219924 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc004apc.2 DAPK1_uc004ape.... Hybrid_Cap... view
DBF4 p.E406fs 7 87536670 87536670 KM12_LARGE_INTE... 37 Frame_Shift_Del Del A - uc003ujf.1 DBF4_uc003ujh.1... Hybrid_Cap...
DBN1 p.E197del 5 176894034 176894036 KM12_LARGE_INTE... 37 In_Frame_Del Del CTC - uc003mgx.2 DBN1_uc003mgy.2... Hybrid_Cap...
DLL1 6 170597650 170597650 KM12_LARGE_INTE... 37 Intron SNP G A uc003qxm.2 DLL1_uc011ehc.1... Hybrid_Cap... view
DST 6 56472836 56472836 KM12_LARGE_INTE... 37 Intron SNP G A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DYRK1A 21 38884884 38884884 KM12_LARGE_INTE... 37 3'UTR Del T - uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
DYRK3 p.P557L 1 206822213 206822213 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc001hej.2 DYRK3_uc001hek.... Hybrid_Cap... view
EIF2AK3 p.D691N 2 88874930 88874930 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc002stc.3 Hybrid_Cap... view
EIF2AK4 15 40284895 40284896 KM12_LARGE_INTE... 37 Intron Ins - T uc001zkm.1 EIF2AK4_uc010bb... Hybrid_Cap...
EIF4G1 p.G904R 3 184042735 184042735 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc010hxx.2 EIF4G1_uc003fno... Hybrid_Cap... view
EIF5A2 p.Q134_splice 3 170612080 170612080 KM12_LARGE_INTE... 37 Splice_Site_SNP SNP C T uc003fhd.2 Hybrid_Cap... view
ELAVL1 p.A299V 19 8028452 8028452 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc002mjb.2 Hybrid_Cap... view
ELN p.G690C 7 73480291 73480291 KM12_LARGE_INTE... 37 Missense_Mutation SNP G T uc003tzw.2 RFC2_uc011kfa.1... Hybrid_Cap... view
EP300 p.Q761R 22 41545082 41545082 KM12_LARGE_INTE... 37 Missense_Mutation SNP A G uc003azl.3 Hybrid_Cap... view
EP300 p.P1452L 22 41566478 41566478 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc003azl.3 Hybrid_Cap... view
EP300 22 41574970 41574972 KM12_LARGE_INTE... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA4 2 222290624 222290624 KM12_LARGE_INTE... 37 3'UTR Del T - uc002vmq.2 EPHA4_uc002vmr.... Hybrid_Cap...
EPHA6 3 97367230 97367231 KM12_LARGE_INTE... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHA7 p.G687V 6 93967867 93967867 KM12_LARGE_INTE... 37 Missense_Mutation SNP C A uc003poe.2 EPHA7_uc003pof.... Hybrid_Cap... view
EPHB3 p.A498T 3 184295458 184295458 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc003foz.2 Hybrid_Cap... view
EPS15 1 51822220 51822220 KM12_LARGE_INTE... 37 3'UTR Del A - uc001csq.1 EPS15_uc009vyz.... Hybrid_Cap...
ERBB2 p.P230L 17 37866384 37866384 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc002hso.2 ERBB2_uc002hsm.... Hybrid_Cap... view
ERBB3 12 56492196 56492199 KM12_LARGE_INTE... 37 Intron Del AAAA - rs77351535 uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap...
ERBB3 12 56495849 56495849 KM12_LARGE_INTE... 37 3'UTR SNP C T uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap... view
ERBB4 p.S418fs 2 212568865 212568866 KM12_LARGE_INTE... 37 Frame_Shift_Ins Ins - A uc002veg.1 ERBB4_uc002veh.... Hybrid_Cap...
ERLIN2 p.A260V 8 37611007 37611007 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc003xke.3 Hybrid_Cap... view
ERN1 p.R594C 17 62131783 62131783 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc002jdz.2 Hybrid_Cap... view
ETV1 p.P138S 7 13975475 13975475 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap... view
F8 p.Q2306H X 154066010 154066010 KM12_LARGE_INTE... 37 Missense_Mutation SNP T A uc004fmt.2 F8_uc004fms.2_M... Hybrid_Cap... view
F8 p.G864V X 154159474 154159474 KM12_LARGE_INTE... 37 Missense_Mutation SNP C A uc004fmt.2 Hybrid_Cap... view
FANCA p.E1023_splice 16 89816311 89816311 KM12_LARGE_INTE... 37 Splice_Site_SNP SNP C T uc002fou.1 FANCA_uc010vpn.... Hybrid_Cap... view
FANCA p.L72fs 16 89880996 89880996 KM12_LARGE_INTE... 37 Frame_Shift_Del Del A - uc002fou.1 FANCA_uc010vpn.... Hybrid_Cap...
FANCI p.S1008F 15 89847111 89847111 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc010bnp.1 FANCI_uc002bnm.... Hybrid_Cap... view
FBN1 p.C145Y 15 48892344 48892344 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc001zwx.1 Hybrid_Cap... view
FES p.G29R 15 91428360 91428360 KM12_LARGE_INTE... 37 Missense_Mutation SNP G C uc002bpv.2 FES_uc010uqj.1_... Hybrid_Cap... view
FGFR1OP 6 167453520 167453520 KM12_LARGE_INTE... 37 3'UTR Del T - uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1805482 1805482 KM12_LARGE_INTE... 37 Intron SNP G A uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap... view
FIP1L1 p.R483fs 4 54319248 54319249 KM12_LARGE_INTE... 37 Frame_Shift_Del Del AG - uc003gzy.2 PDGFRA_uc003haa... Hybrid_Cap...
FLI1 11 128638217 128638217 KM12_LARGE_INTE... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT4 p.P364P 5 180055893 180055893 KM12_LARGE_INTE... 37 Silent SNP G A uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap... view
FMN2 p.PPPPLPGAAIP948del 1 240370942 240370974 KM12_LARGE_INTE... 37 In_Frame_Del Del CCTCC... - rs72444563 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FN1 p.A138T 2 216298050 216298050 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap... view
FOXP1 3 71008342 71008344 KM12_LARGE_INTE... 37 3'UTR Del TTT - rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
FSCB p.Q804H 14 44973779 44973779 KM12_LARGE_INTE... 37 Missense_Mutation SNP C A uc001wvn.2 Hybrid_Cap... view
GLI1 p.W272fs 12 57860075 57860075 KM12_LARGE_INTE... 37 Frame_Shift_Del Del G - uc001snx.2 GLI1_uc009zpq.2... Hybrid_Cap...
GLYAT 11 58477136 58477136 KM12_LARGE_INTE... 37 3'UTR SNP C T uc001nnb.2 Hybrid_Cap... view
GLYAT 11 58477747 58477747 KM12_LARGE_INTE... 37 Intron SNP G T uc001nnb.2 GLYAT_uc001nnc.... Hybrid_Cap... view
GNAS p.S577N 20 57430050 57430050 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc002xzw.2 GNAS_uc002xzt.2... Hybrid_Cap... view
GNAS p.R844H 20 57484421 57484421 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc002xzw.2 GNAS_uc002xzt.2... Hybrid_Cap... view
GOPC p.V332I 6 117890818 117890818 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T rs116098352 uc003pxu.2 GOPC_uc003pxq.1... Hybrid_Cap... view
GPR112 p.F2957fs X 135488065 135488065 KM12_LARGE_INTE... 37 Frame_Shift_Del Del T - uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GPR119 p.A89V X 129519156 129519156 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc011muv.1 Hybrid_Cap... view
GPR87 p.R248Q 3 151012291 151012291 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc003eyt.2 MED12L_uc011bnz... Hybrid_Cap... view
GRIA3 X 122318386 122318387 KM12_LARGE_INTE... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIN2A p.S1390S 16 9857231 9857231 KM12_LARGE_INTE... 37 Silent SNP C T uc002czo.3 GRIN2A_uc010uym... Hybrid_Cap... view
GRIN2B p.G724_splice 12 13722952 13722952 KM12_LARGE_INTE... 37 Splice_Site_SNP SNP C A uc001rbt.2 Hybrid_Cap... view
GRK4 p.Q219fs 4 3015470 3015470 KM12_LARGE_INTE... 37 Frame_Shift_Del Del A - uc003ggn.1 GRK4_uc003ggo.1... Hybrid_Cap...
GSG2 p.K663fs 17 3629216 3629216 KM12_LARGE_INTE... 37 Frame_Shift_Del Del A - uc002fwp.2 ITGAE_uc002fwo.... Hybrid_Cap...
GSK3B p.G65E 3 119720981 119720981 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc003edn.2 GSK3B_uc003edo.... Hybrid_Cap... view
GSK3B 3 119812334 119812334 KM12_LARGE_INTE... 37 5'UTR SNP T G uc003edn.2 GSK3B_uc003edo.... Hybrid_Cap... view
GUCY2C 12 14827464 14827466 KM12_LARGE_INTE... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HAPLN1 p.T104fs 5 82948434 82948434 KM12_LARGE_INTE... 37 Frame_Shift_Del Del T - uc003kim.2 HAPLN1_uc003kin... Hybrid_Cap...
HBD 11 5255759 5255759 KM12_LARGE_INTE... 37 5'UTR Del C - uc001maf.1 Hybrid_Cap...
HDAC1 p.E461K 1 32798310 32798310 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc001bvb.1 HDAC1_uc010ohf.... Hybrid_Cap... view
HDAC2 p.T553fs 6 114264518 114264518 KM12_LARGE_INTE... 37 Frame_Shift_Del Del T - uc003pwd.1 HDAC2_uc003pwc.... Hybrid_Cap...
HDAC4 p.P901fs 2 240002823 240002823 KM12_LARGE_INTE... 37 Frame_Shift_Del Del G - uc002vyk.3 HDAC4_uc010fyy.... Hybrid_Cap...
HDAC4 p.A373V 2 240056117 240056117 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc002vyk.3 HDAC4_uc010fyz.... Hybrid_Cap... view
HDAC4 p.A167V 2 240085610 240085610 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc002vyk.3 HDAC4_uc010fyz.... Hybrid_Cap... view
HECW1 p.R34W 7 43351434 43351434 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc003tid.1 HECW1_uc011kbi.... Hybrid_Cap... view
HIF1A 14 62213929 62213930 KM12_LARGE_INTE... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HIP1 p.G898V 7 75174066 75174066 KM12_LARGE_INTE... 37 Missense_Mutation SNP C A uc003uds.1 HIP1_uc011kfz.1... Hybrid_Cap... view
HOXD10 p.Y46* 2 176981699 176981699 KM12_LARGE_INTE... 37 Nonsense_Mutation SNP T A uc002ukj.2 Hybrid_Cap... view
HOXD10 p.P73L 2 176981779 176981779 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc002ukj.2 Hybrid_Cap... view
HOXD10 2 176983986 176983986 KM12_LARGE_INTE... 37 3'UTR SNP G A uc002ukj.2 Hybrid_Cap... view
HOXD11 p.E284K 2 176973703 176973703 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc002uki.2 HOXD11_uc010fqx... Hybrid_Cap... view
HOXD11 2 176974051 176974051 KM12_LARGE_INTE... 37 3'UTR SNP G A uc002uki.2 HOXD11_uc010fqx... Hybrid_Cap... view
HSP90AB1 p.C366Y 6 44218924 44218924 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc003oxa.1 HSP90AB1_uc011d... Hybrid_Cap... view
HSPB8 12 119617068 119617068 KM12_LARGE_INTE... 37 De_novo_Start_OutOfFrame SNP G A uc001txb.2 HSPB8_uc001txc.... Hybrid_Cap... view
HUNK p.S594F 21 33371133 33371133 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc002yph.2 Hybrid_Cap... view
IFNB1 p.E74K 9 21077649 21077649 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc003zok.2 Hybrid_Cap... view
IKZF1 p.R511Q 7 50468297 50468297 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc003tow.3 IKZF1_uc003tox.... Hybrid_Cap... view
ILK 11 6630029 6630029 KM12_LARGE_INTE... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INSR p.R1270C 19 7117408 7117408 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc002mgd.1 INSR_uc002mge.1... Hybrid_Cap... view
ITGA10 p.P543fs 1 145534122 145534122 KM12_LARGE_INTE... 37 Frame_Shift_Del Del C - uc001eoa.2 NBPF10_uc001emp... Hybrid_Cap...
ITGA7 p.F19fs 12 56101410 56101410 KM12_LARGE_INTE... 37 Frame_Shift_Del Del A - uc001shh.2 ITGA7_uc001shg.... Hybrid_Cap...
ITPR1 p.V1456L 3 4738942 4738942 KM12_LARGE_INTE... 37 Missense_Mutation SNP G T uc003bqa.2 ITPR1_uc010hca.... Hybrid_Cap... view
ITPR1 p.Q2091* 3 4824330 4824330 KM12_LARGE_INTE... 37 Nonsense_Mutation SNP C T uc003bqa.2 ITPR1_uc010hca.... Hybrid_Cap... view
JAG2 p.C420C 14 105617627 105617627 KM12_LARGE_INTE... 37 Silent SNP G A uc001yqg.2 JAG2_uc001yqf.2... Hybrid_Cap... view
KALRN p.A1818T 3 124351542 124351542 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc003ehg.2 KALRN_uc003ehi.... Hybrid_Cap... view
KCNH2 p.K817R 7 150646086 150646086 KM12_LARGE_INTE... 37 Missense_Mutation SNP T C uc003wic.2 KCNH2_uc003wib.... Hybrid_Cap... view
KDM5A p.K1199fs 12 416953 416953 KM12_LARGE_INTE... 37 Frame_Shift_Del Del T - uc001qif.1 KDM5A_uc001qie.... Hybrid_Cap...
KDM5A p.S1066C 12 420070 420070 KM12_LARGE_INTE... 37 Missense_Mutation SNP G C uc001qif.1 KDM5A_uc001qie.... Hybrid_Cap... view
KDM5A 12 498268 498273 KM12_LARGE_INTE... 37 5'UTR Del GGGGG... - rs12297749 uc001qif.1 KDM5A_uc001qie.... Hybrid_Cap...
KDM6A p.S38fs X 44732910 44732910 KM12_LARGE_INTE... 37 Frame_Shift_Del Del C - uc011mkz.1 KDM6A_uc010nhk.... Hybrid_Cap...
KIAA1549 p.G211D 7 138603740 138603740 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc011kql.1 KIAA1549_uc003v... Hybrid_Cap... view
KSR1 p.P152fs 17 25910016 25910016 KM12_LARGE_INTE... 37 Frame_Shift_Del Del C - uc010crg.2 KSR1_uc002gzj.1... Hybrid_Cap...
KTN1 14 56150981 56150981 KM12_LARGE_INTE... 37 3'UTR Del A - uc001xcb.2 KTN1_uc001xce.2... Hybrid_Cap...
LAMA1 p.G1189S 18 7011421 7011421 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc002knm.2 LAMA1_uc010wzj.... Hybrid_Cap... view
LAMA1 p.D3055E 18 6942141 6942141 KM12_LARGE_INTE... 37 Missense_Mutation SNP G T uc002knm.2 LAMA1_uc002knk.... Hybrid_Cap... view
LATS1 p.L109S 6 150022937 150022937 KM12_LARGE_INTE... 37 Missense_Mutation SNP A G uc003qmu.1 LATS1_uc010kif.... Hybrid_Cap... view
LATS2 p.L914fs 13 21553861 21553861 KM12_LARGE_INTE... 37 Frame_Shift_Del Del A - uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
LATS2 13 21620223 21620223 KM12_LARGE_INTE... 37 5'UTR Del A - rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
LCK p.R393H 1 32745488 32745488 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc001buz.2 LCK_uc001bux.2_... Hybrid_Cap... view
LIF 22 30639572 30639572 KM12_LARGE_INTE... 37 3'UTR SNP G A uc003agz.2 LIF_uc011aks.1_... Hybrid_Cap... view
LIFR p.G1084R 5 38481741 38481741 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc010ive.1 LIFR_uc003jli.2... Hybrid_Cap... view
LIFR p.D689_splice 5 38490394 38490394 KM12_LARGE_INTE... 37 Splice_Site_SNP SNP C T uc010ive.1 LIFR_uc003jli.2... Hybrid_Cap... view
LRP2 p.G3172D 2 170042343 170042343 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc002ues.2 Hybrid_Cap... view
LRP2 p.D2103N 2 170066125 170066125 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc002ues.2 Hybrid_Cap... view
LRRC2 p.N173K 3 46574371 46574371 KM12_LARGE_INTE... 37 Missense_Mutation SNP A T uc010hji.2 LRRC2_uc003cpu.... Hybrid_Cap... view
LRRC7 p.P820fs 1 70504079 70504079 KM12_LARGE_INTE... 37 Frame_Shift_Del Del C - uc001dep.2 LRRC7_uc009wbg.... Hybrid_Cap...
LRRK2 p.G1939W 12 40728826 40728826 KM12_LARGE_INTE... 37 Missense_Mutation SNP G T uc001rmg.3 LRRK2_uc009zjw.... Hybrid_Cap... view
LTK p.R138L 15 41804410 41804410 KM12_LARGE_INTE... 37 Missense_Mutation SNP C A uc001zoa.3 LTK_uc001zob.3_... Hybrid_Cap... view
LYN p.T107fs 8 56863054 56863054 KM12_LARGE_INTE... 37 Frame_Shift_Del Del A - uc003xsk.3 LYN_uc003xsl.3_... Hybrid_Cap...
MALT1 p.N422S 18 56400671 56400671 KM12_LARGE_INTE... 37 Missense_Mutation SNP A G uc002lhm.1 MALT1_uc002lhn.... Hybrid_Cap... view
MAML1 p.G531W 5 179193602 179193602 KM12_LARGE_INTE... 37 Missense_Mutation SNP G T uc003mkm.2 MAML1_uc003mkn.... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 KM12_LARGE_INTE... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K6 17 67501885 67501885 KM12_LARGE_INTE... 37 Intron SNP T C uc002jij.2 MAP2K6_uc002jii... Hybrid_Cap... view
MAP2K6 17 67516341 67516341 KM12_LARGE_INTE... 37 Intron Del T - uc002jij.2 MAP2K6_uc002jii... Hybrid_Cap...
MAP2K6 17 67516594 67516594 KM12_LARGE_INTE... 37 Intron SNP C A uc002jij.2 MAP2K6_uc002jii... Hybrid_Cap... view
MAP3K4 p.D1481E 6 161532914 161532914 KM12_LARGE_INTE... 37 Missense_Mutation SNP T A uc003qtn.2 MAP3K4_uc003qto... Hybrid_Cap... view
MAP3K5 p.F481fs 6 136980439 136980440 KM12_LARGE_INTE... 37 Frame_Shift_Ins Ins - A uc003qhc.2 MAP3K5_uc011edj... Hybrid_Cap...
MAP3K6 p.R196Q 1 27690803 27690803 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc001bny.1 MAP3K6_uc009vsw... Hybrid_Cap... view
MAP3K7 6 91226170 91226170 KM12_LARGE_INTE... 37 3'UTR Del A - uc003pnz.1 MAP3K7_uc003pny... Hybrid_Cap...
MAP3K7 p.G191R 6 91266255 91266255 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc003pnz.1 MAP3K7_uc003poa... Hybrid_Cap... view
MAP3K9 p.P667S 14 71201130 71201130 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc001xml.2 MAP3K9_uc010ttk... Hybrid_Cap... view
MAP4K1 p.P235L 19 39101907 39101907 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc002oix.1 MAP4K1_uc002oiy... Hybrid_Cap... view
MARK1 p.G152* 1 220777438 220777438 KM12_LARGE_INTE... 37 Nonsense_Mutation SNP G T uc009xdw.2 MARK1_uc001hmn.... Hybrid_Cap... view
MARK3 p.E370D 14 103933528 103933528 KM12_LARGE_INTE... 37 Missense_Mutation SNP G T uc001ymz.3 MARK3_uc001ymx.... Hybrid_Cap... view
MARK4 p.R36H 19 45762302 45762302 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc002pba.1 MARK4_uc002paz.... Hybrid_Cap... view
MAST2 p.D728Y 1 46494569 46494569 KM12_LARGE_INTE... 37 Missense_Mutation SNP G T uc001cov.2 MAST2_uc001cow.... Hybrid_Cap... view
MAST2 p.S1272fs 1 46499885 46499885 KM12_LARGE_INTE... 37 Frame_Shift_Del Del C - uc001cov.2 MAST2_uc001cow.... Hybrid_Cap...
MAST4 p.R89G 5 66386058 66386058 KM12_LARGE_INTE... 37 Missense_Mutation SNP A G uc003jut.1 MAST4_uc003jus.... Hybrid_Cap... view
MAST4 p.E738K 5 66440545 66440545 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc003jut.1 MAST4_uc003juu.... Hybrid_Cap... view
MAST4 p.P1109L 5 66458542 66458542 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc003jut.1 MAST4_uc003juw.... Hybrid_Cap... view
MCM3AP 21 47679080 47679080 KM12_LARGE_INTE... 37 Intron SNP C T uc002zir.1 MCM3AP_uc002zip... Hybrid_Cap... view
MCM4 p.A178T 8 48875354 48875354 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc003xqk.1 PRKDC_uc003xqi.... Hybrid_Cap... view
MDM4 p.E297D 1 204515993 204515993 KM12_LARGE_INTE... 37 Missense_Mutation SNP G T uc001hba.2 MDM4_uc001hbd.1... Hybrid_Cap... view
MECOM p.F700fs 3 168833560 168833560 KM12_LARGE_INTE... 37 Frame_Shift_Del Del A - uc011bpj.1 MECOM_uc010hwk.... Hybrid_Cap...
MGA p.G749E 15 41999983 41999983 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc010ucy.1 MGA_uc001zog.1_... Hybrid_Cap... view
MLL p.L3826fs 11 118391565 118391565 KM12_LARGE_INTE... 37 Frame_Shift_Del Del A - uc001ptb.2 MLL_uc001pta.2_... Hybrid_Cap...
MLL3 p.S3903F 7 151853394 151853394 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap... view
MLLT4 p.P1367fs 6 168352157 168352157 KM12_LARGE_INTE... 37 Frame_Shift_Del Del C - uc003qwd.2 MLLT4_uc003qwb.... Hybrid_Cap...
MSH2 p.R308K 2 47641538 47641538 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc002rvz.2 MSH2_uc010yoh.1... Hybrid_Cap... view
MSH3 p.S116F 5 79952339 79952339 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap... view
MTMR11 p.W607C 1 149901635 149901635 KM12_LARGE_INTE... 37 Missense_Mutation SNP C A uc001etl.3 SF3B4_uc001etj.... Hybrid_Cap... view
MTMR11 1 149902648 149902648 KM12_LARGE_INTE... 37 Intron Del A - uc001etl.3 SF3B4_uc001etj.... Hybrid_Cap...
MTOR p.P1254L 1 11269409 11269409 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc001asd.2 Hybrid_Cap... view
MYB 6 135515660 135515660 KM12_LARGE_INTE... 37 Intron SNP G A uc003qfh.2 MYB_uc003qfc.2_... Hybrid_Cap... view
MYD88 p.R234Q 3 38182077 38182077 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc003chx.2 MYD88_uc011ayi.... Hybrid_Cap... view
MYH11 p.K1887R 16 15808913 15808913 KM12_LARGE_INTE... 37 Missense_Mutation SNP T C uc002ddx.2 MYH11_uc002ddv.... Hybrid_Cap... view
MYLK 3 123332876 123332879 KM12_LARGE_INTE... 37 3'UTR Del TTTT - rs115544676 uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap...
MYLK p.E1430_splice 3 123368043 123368044 KM12_LARGE_INTE... 37 Splice_Site_Ins Ins - G rs41431347 uc003ego.2 MYLK_uc010hrr.2... Hybrid_Cap...
MYLK2 p.M359I 20 30414512 30414512 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc002wwq.2 MYLK2_uc002wws.... Hybrid_Cap... view
MYST2 p.F310F 17 47893242 47893242 KM12_LARGE_INTE... 37 Silent SNP C T uc002ipm.2 MYST2_uc002ipl.... Hybrid_Cap... view
MYST2 p.Y459fs 17 47899143 47899143 KM12_LARGE_INTE... 37 Frame_Shift_Del Del T - uc002ipm.2 MYST2_uc002ipl.... Hybrid_Cap...
MYST4 p.Q802fs 10 76744869 76744869 KM12_LARGE_INTE... 37 Frame_Shift_Del Del A - uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
MYST4 p.E1104del 10 76781906 76781908 KM12_LARGE_INTE... 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
N4BP2 p.K1648fs 4 40144449 40144449 KM12_LARGE_INTE... 37 Frame_Shift_Del Del A - uc003guy.3 N4BP2_uc010ifq.... Hybrid_Cap...
NAV3 p.G429V 12 78400604 78400604 KM12_LARGE_INTE... 37 Missense_Mutation SNP G T uc001syp.2 NAV3_uc001syo.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 KM12_LARGE_INTE... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 KM12_LARGE_INTE... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 113075129 113075129 KM12_LARGE_INTE... 37 5'UTR SNP C T uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap... view
NCOA3 p.Q1276del 20 46279837 46279839 KM12_LARGE_INTE... 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NCOA3 20 46282339 46282340 KM12_LARGE_INTE... 37 3'UTR Ins - AT uc002xtk.2 NCOA3_uc002xtl.... Hybrid_Cap...
NEK1 p.K880fs 4 170359358 170359358 KM12_LARGE_INTE... 37 Frame_Shift_Del Del T - uc003isd.1 NEK1_uc003isb.1... Hybrid_Cap...
NEK1 p.A463T 4 170477126 170477126 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc003isd.1 NEK1_uc003isb.1... Hybrid_Cap... view
NEK1 p.A56T 4 170523207 170523207 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc003isd.1 NEK1_uc003isb.1... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 KM12_LARGE_INTE... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NEK6 9 127113400 127113400 KM12_LARGE_INTE... 37 3'UTR SNP G A uc004boh.2 NEK6_uc004bof.2... Hybrid_Cap... view
NEK8 p.V690fs 17 27068995 27068996 KM12_LARGE_INTE... 37 Frame_Shift_Ins Ins - C uc002hcp.2 TRAF4_uc002hcq.... Hybrid_Cap...
NEK9 p.A610T 14 75568372 75568372 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc001xrl.2 NEK9_uc001xrk.2... Hybrid_Cap... view
NF1 p.F945L 17 29556466 29556466 KM12_LARGE_INTE... 37 Missense_Mutation SNP T C uc002hgg.2 NF1_uc002hgh.2_... Hybrid_Cap... view
NF1 p.L1361R 17 29576109 29576109 KM12_LARGE_INTE... 37 Missense_Mutation SNP T G uc002hgg.2 NF1_uc002hgh.2_... Hybrid_Cap... view
NIN p.R696G 14 51226888 51226888 KM12_LARGE_INTE... 37 Missense_Mutation SNP T C uc001wyi.2 NIN_uc001wyj.2_... Hybrid_Cap... view
NIPBL p.K1674R 5 37020571 37020571 KM12_LARGE_INTE... 37 Missense_Mutation SNP A G uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap... view
NIPBL 5 37051862 37051862 KM12_LARGE_INTE... 37 Intron Del T - uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap...
NIPBL p.G2585R 5 37061013 37061013 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap... view
NIPBL p.E2703G 5 37064687 37064687 KM12_LARGE_INTE... 37 Missense_Mutation SNP A G uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap... view
NLRP3 p.P283T 1 247587592 247587592 KM12_LARGE_INTE... 37 Missense_Mutation SNP C A uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap... view
NOTCH2 p.S2149F 1 120458899 120458899 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc001eik.2 Hybrid_Cap... view
NPAT p.S726del 11 108043536 108043538 KM12_LARGE_INTE... 37 In_Frame_Del Del AGA - uc001pjz.3 NPAT_uc010rvv.1... Hybrid_Cap...
NPM1 5 170837734 170837734 KM12_LARGE_INTE... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 KM12_LARGE_INTE... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPR2 p.L156P 9 35792872 35792872 KM12_LARGE_INTE... 37 Missense_Mutation SNP T C uc003zyd.2 NPR2_uc010mlb.2... Hybrid_Cap... view
NR1H2 p.T11fs 19 50880894 50880894 KM12_LARGE_INTE... 37 Frame_Shift_Del Del C - uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 KM12_LARGE_INTE... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUP214 p.Q1240* 9 134070678 134070678 KM12_LARGE_INTE... 37 Nonsense_Mutation SNP C T uc004cag.2 NUP214_uc004cah... Hybrid_Cap... view
NYNRIN p.L1424F 14 24885225 24885225 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc001wpf.3 Hybrid_Cap... view
OBSCN p.T2506M 1 228467642 228467642 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
OBSCN p.S2781N 1 228469778 228469778 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
OBSCN p.K7419N 1 228560736 228560736 KM12_LARGE_INTE... 37 Missense_Mutation SNP G T uc009xez.1 OBSCN_uc001hsr.... Hybrid_Cap... view
P2RX7 p.M1V 12 121570774 121570774 KM12_LARGE_INTE... 37 Missense_Mutation SNP A G uc001tzm.2 P2RX7_uc001tzn.... Hybrid_Cap... view
PARP1 p.E602Q 1 226564946 226564946 KM12_LARGE_INTE... 37 Missense_Mutation SNP C G uc001hqd.3 Hybrid_Cap... view
PAX3 2 223158425 223158426 KM12_LARGE_INTE... 37 Intron Del CT - uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 KM12_LARGE_INTE... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX7 p.P408S 1 19062192 19062192 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc001bay.2 PAX7_uc001baz.2... Hybrid_Cap... view
PAXIP1 p.W75* 7 154785471 154785471 KM12_LARGE_INTE... 37 Nonsense_Mutation SNP C T uc003wlp.2 PAXIP1_uc003wlq... Hybrid_Cap... view
PCDH15 10 55581491 55581491 KM12_LARGE_INTE... 37 3'UTR Del A - uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap...
PCM1 8 17813218 17813219 KM12_LARGE_INTE... 37 Intron Del TT - uc003wyi.3 PCM1_uc011kyh.1... Hybrid_Cap...
PDCD11 p.S954F 10 105184838 105184838 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc001kwy.1 Hybrid_Cap... view
PDK1 p.R368H 2 173451103 173451103 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc002uhq.1 PDK1_uc010zdz.1... Hybrid_Cap... view
PDK3 p.S375F X 24552092 24552092 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc004dbh.2 PDK3_uc004dbg.2... Hybrid_Cap... view
PER1 p.S811F 17 8048098 8048098 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc002gkd.2 PER1_uc010cns.2... Hybrid_Cap... view
PHF3 p.F1398fs 6 64421676 64421676 KM12_LARGE_INTE... 37 Frame_Shift_Del Del T - uc003pep.1 PHF3_uc003pen.2... Hybrid_Cap...
PHKG1 p.R272M 7 56149659 56149659 KM12_LARGE_INTE... 37 Missense_Mutation SNP C A uc011kdb.1 PSPH_uc003trj.2... Hybrid_Cap... view
PIK3C2A p.D947N 11 17141340 17141340 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap... view
PIK3C2A p.E897K 11 17141490 17141490 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 KM12_LARGE_INTE... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3R1 5 67584462 67584462 KM12_LARGE_INTE... 37 Intron Del G - uc003jva.2 PIK3R1_uc003jvb... Hybrid_Cap...
PIP4K2B p.Q118_splice 17 36940495 36940495 KM12_LARGE_INTE... 37 Splice_Site_SNP SNP C T uc002hqs.2 PIP4K2B_uc010wd... Hybrid_Cap... view
PLCB2 p.E1114K 15 40581487 40581487 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc001zld.2 PLCB2_uc001zlc.... Hybrid_Cap... view
PLD1 p.K655R 3 171395388 171395388 KM12_LARGE_INTE... 37 Missense_Mutation SNP T C uc003fhs.2 PLD1_uc003fht.2... Hybrid_Cap... view
PLEKHA5 p.W866* 12 19496304 19496304 KM12_LARGE_INTE... 37 Nonsense_Mutation SNP G A uc010sie.1 PLEKHA5_uc001re... Hybrid_Cap... view
PLK2 5 57754159 57754160 KM12_LARGE_INTE... 37 Intron Ins - A uc003jrn.2 PLK2_uc011cql.1... Hybrid_Cap...
PLK3 p.P101S 1 45266602 45266602 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc001cmn.2 PLK3_uc001cmo.2... Hybrid_Cap... view
PLK3 1 45271483 45271483 KM12_LARGE_INTE... 37 3'UTR SNP T C uc001cmn.2 PLK3_uc001cmo.2... Hybrid_Cap... view
PMS1 p.H81H 2 190660605 190660605 KM12_LARGE_INTE... 37 Silent SNP T C uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap... view
PMS1 2 190670540 190670540 KM12_LARGE_INTE... 37 Intron Del A - uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PORCN X 48378950 48378950 KM12_LARGE_INTE... 37 3'UTR SNP C T uc010nie.1 PORCN_uc004djr.... Hybrid_Cap... view
PPARD p.V88I 6 35388035 35388035 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc003okm.2 PPARD_uc003okl.... Hybrid_Cap... view
PPARD 6 35392589 35392589 KM12_LARGE_INTE... 37 Intron SNP G A uc003okm.2 PPARD_uc003okl.... Hybrid_Cap... view
PPARG 3 12393048 12393048 KM12_LARGE_INTE... 37 5'UTR Del A - uc003bwx.2 PPARG_uc003bwr.... Hybrid_Cap...
PPM1E 17 57060352 57060352 KM12_LARGE_INTE... 37 3'UTR Del A - uc002iwx.2 PPM1E_uc010ddd.... Hybrid_Cap...
PPP1R3A p.E246G 7 113558315 113558315 KM12_LARGE_INTE... 37 Missense_Mutation SNP T C uc010ljy.1 Hybrid_Cap... view
PRG4 1 186283666 186283666 KM12_LARGE_INTE... 37 3'UTR Del A - uc001gru.3 PRG4_uc001grt.3... Hybrid_Cap...
PRKCE p.P606fs 2 46378264 46378264 KM12_LARGE_INTE... 37 Frame_Shift_Del Del C - uc002rut.2 Hybrid_Cap...
PRKD3 2 37480319 37480320 KM12_LARGE_INTE... 37 Stop_Codon_Ins Ins - T rs79875666 uc002rqd.2 Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 KM12_LARGE_INTE... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKDC p.L919F 8 48826487 48826487 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap... view
PRKG1 10 52751071 52751079 KM12_LARGE_INTE... 37 5'UTR Del GCCGC... - uc001jjm.2 PRKG1_uc010qhp.... Hybrid_Cap...
PRKG1 p.A85T 10 52834603 52834603 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc001jjo.2 PRKG1_uc001jjm.... Hybrid_Cap... view
PRKG2 p.R150G 4 82125754 82125754 KM12_LARGE_INTE... 37 Missense_Mutation SNP T C uc003hmh.2 PRKG2_uc011cch.... Hybrid_Cap... view
PSEN2 p.M21I 1 227069671 227069671 KM12_LARGE_INTE... 37 Missense_Mutation SNP G A uc009xeo.1 PSEN2_uc009xep.... Hybrid_Cap... view
PSMA4 15 78834621 78834621 KM12_LARGE_INTE... 37 Intron Del A - uc002bdu.3 PSMA4_uc010blf.... Hybrid_Cap...
PTCH1 p.D878N 9 98224209 98224209 KM12_LARGE_INTE... 37 Missense_Mutation SNP C T uc004avk.3 PTCH1_uc010mro.... Hybrid_Cap...