Annotation Summary for Cell Line: CW-2  

Cell line primary name: CW-2
Cell line aliases:
Gender:
Site Primary: large_intestine
Histology: carcinoma
Hist Subtype1: NS
Notes:
Source: RIKEN
Expression arrays: BITTS_p_NCLE_RNA12_HG-U133_Plus_2_E01_698830
SNP arrays: QUAFF_p_NCLE_DNAAffy12_GenomeWideSNP_6_B03_592764
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in CW-2

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 CW2_LARGE_INTES... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABCC4 13 95673747 95673748 CW2_LARGE_INTES... 37 3'UTR Ins - A uc001vmd.3 ABCC4_uc010afj.... Hybrid_Cap...
ABI1 10 27037345 27037345 CW2_LARGE_INTES... 37 3'UTR SNP T C uc001isx.2 ABI1_uc001ite.2... Hybrid_Cap... view
ABI1 10 27037488 27037489 CW2_LARGE_INTES... 37 3'UTR Del AA - rs75446996 uc001isx.2 ABI1_uc001ite.2... Hybrid_Cap...
ABL2 p.Y218H 1 179095547 179095547 CW2_LARGE_INTES... 37 Missense_Mutation SNP A G uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap... view
ABL2 p.A183T 1 179095652 179095652 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap... view
ABL2 p.S525I 1 179081521 179081521 CW2_LARGE_INTES... 37 Missense_Mutation SNP C A uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap... view
ACACA p.G1896R 17 35487138 35487138 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc002hno.2 ACACA_uc002hnk.... Hybrid_Cap... view
ACACB p.S1929R 12 109687906 109687906 CW2_LARGE_INTES... 37 Missense_Mutation SNP C A uc001tob.2 ACACB_uc001toc.... Hybrid_Cap... view
ACVR1 p.C37fs 2 158637068 158637069 CW2_LARGE_INTES... 37 Frame_Shift_Del Del CA - uc002tzm.3 ACVR1_uc002tzn.... Hybrid_Cap...
ACVR1C 2 158390344 158390344 CW2_LARGE_INTES... 37 3'UTR Del A - uc002tzk.3 ACVR1C_uc002tzl... Hybrid_Cap...
ACVR2A 2 148684858 148684858 CW2_LARGE_INTES... 37 3'UTR SNP G A uc002twg.2 ACVR2A_uc010zbn... Hybrid_Cap... view
ACVR2B p.P166fs 3 38519759 38519760 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - A uc003cif.2 ACVR2B_uc003cig... Hybrid_Cap...
ADAM10 p.I155V 15 58971344 58971344 CW2_LARGE_INTES... 37 Missense_Mutation SNP T C uc002afd.1 ADAM10_uc010bgc... Hybrid_Cap... view
ADAM17 p.A368V 2 9658118 9658118 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc002qzu.2 ADAM17_uc010ewy... Hybrid_Cap... view
ADAM22 p.D416N 7 87763656 87763656 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc003ujp.1 ADAM22_uc003ujk... Hybrid_Cap... view
ADAM22 p.G900S 7 87811305 87811305 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc003ujp.1 ADAM22_uc003ujk... Hybrid_Cap... view
ADAM28 p.L72fs 8 24167472 24167473 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - A uc003xdy.2 ADAM28_uc003xdx... Hybrid_Cap...
ADAM28 p.R128_splice 8 24170900 24170900 CW2_LARGE_INTES... 37 Splice_Site_SNP SNP G T uc003xdy.2 ADAM28_uc003xdx... Hybrid_Cap... view
ADAM28 8 24211994 24211997 CW2_LARGE_INTES... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTS18 p.S487N 16 77389837 77389837 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc002ffc.3 ADAMTS18_uc010c... Hybrid_Cap... view
ADAMTS18 p.R1047Q 16 77327022 77327022 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc002ffc.3 ADAMTS18_uc010c... Hybrid_Cap... view
ADAMTS18 p.R1094* 16 77325285 77325285 CW2_LARGE_INTES... 37 Nonsense_Mutation SNP G A uc002ffc.3 Hybrid_Cap... view
ADAMTS19 p.S578fs 5 128958022 128958023 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - T uc003kvb.1 ADAMTS19_uc010j... Hybrid_Cap...
ADAMTS2 p.R803W 5 178556983 178556983 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc003mjw.2 Hybrid_Cap... view
ADAMTS20 10 27037340 27037340 CW2_LARGE_INTES... 37 3'UTR SNP A T uc001isx.2 ABI1_uc001ite.2... Hybrid_Cap... view
ADAMTS20 p.Y1754H 12 43769912 43769912 CW2_LARGE_INTES... 37 Missense_Mutation SNP A G uc010skx.1 Hybrid_Cap... view
AFF4 p.E957D 5 132223600 132223600 CW2_LARGE_INTES... 37 Missense_Mutation SNP C A uc003kyd.2 AFF4_uc011cxk.1... Hybrid_Cap... view
AIM1 p.P579fs 6 106968043 106968044 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - A uc003prh.2 Hybrid_Cap...
AKAP12 p.R857M 6 151672096 151672096 CW2_LARGE_INTES... 37 Missense_Mutation SNP G T uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap... view
AKAP4 p.D166E X 49958866 49958866 CW2_LARGE_INTES... 37 Missense_Mutation SNP A T uc004dow.1 AKAP4_uc004dov.... Hybrid_Cap... view
AKT1 14 105236670 105236670 CW2_LARGE_INTES... 37 3'UTR SNP C T rs111793056 uc001ypk.2 INF2_uc010tyi.1... Hybrid_Cap... view
AKT2 p.A139V 19 40748466 40748466 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc002onf.2 AKT2_uc010egs.2... Hybrid_Cap... view
ALK p.P1218S 2 29436941 29436941 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc002rmy.2 ALK_uc010ymo.1_... Hybrid_Cap... view
ALPK2 p.A1811V 18 56196392 56196392 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap... view
AMZ2 17 66246315 66246316 CW2_LARGE_INTES... 37 Intron Ins - T uc002jgs.1 AMZ2_uc002jgr.1... Hybrid_Cap...
ANGPTL4 p.H154H 19 8431118 8431118 CW2_LARGE_INTES... 37 Silent SNP T C uc002mjq.1 ANGPTL4_uc002mj... Hybrid_Cap... view
ANKK1 p.S136N 11 113264424 113264424 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc001pny.2 Hybrid_Cap... view
APAF1 p.L582L 12 99065450 99065450 CW2_LARGE_INTES... 37 Silent SNP G A uc001tfz.2 APAF1_uc001tfy.... Hybrid_Cap... view
APC p.R302* 5 112151261 112151261 CW2_LARGE_INTES... 37 Nonsense_Mutation SNP C T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
APC p.G470R 5 112157688 112157688 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
APC p.A528V 5 112163660 112163660 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
APC p.K1462fs 5 112175676 112175677 CW2_LARGE_INTES... 37 Frame_Shift_Del Del AG - uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap...
ARAF p.D530G X 47430314 47430314 CW2_LARGE_INTES... 37 Missense_Mutation SNP A G uc011mlq.1 Hybrid_Cap... view
ARFGEF1 p.W1424* 8 68131732 68131732 CW2_LARGE_INTES... 37 Nonsense_Mutation SNP C T uc003xxo.1 ARFGEF1_uc003xx... Hybrid_Cap... view
ARFGEF1 p.V395I 8 68189537 68189537 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc003xxo.1 Hybrid_Cap... view
ARHGAP26 p.D429fs 5 142434005 142434005 CW2_LARGE_INTES... 37 Frame_Shift_Del Del C - uc011dbj.1 ARHGAP26_uc003l... Hybrid_Cap...
ARHGAP26 p.L663P 5 142526946 142526946 CW2_LARGE_INTES... 37 Missense_Mutation SNP T C uc011dbj.1 ARHGAP26_uc003l... Hybrid_Cap... view
ARHGAP29 p.P1160H 1 94639732 94639732 CW2_LARGE_INTES... 37 Missense_Mutation SNP G T uc001dqj.3 ARHGAP29_uc009w... Hybrid_Cap... view
ARHGAP29 1 94643144 94643144 CW2_LARGE_INTES... 37 Intron Del T - uc001dqj.3 ARHGAP29_uc009w... Hybrid_Cap...
ARHGEF10 8 1824596 1824596 CW2_LARGE_INTES... 37 Intron Del G - rs4875944 uc003wpr.2 ARHGEF10_uc003w... Hybrid_Cap...
ARHGEF12 11 120348340 120348340 CW2_LARGE_INTES... 37 Intron SNP G A uc001pxl.1 ARHGEF12_uc009z... Hybrid_Cap... view
ASPH p.D624N 8 62438566 62438566 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap... view
ATIC 2 216214454 216214455 CW2_LARGE_INTES... 37 3'UTR Ins - A uc002vex.3 ATIC_uc010zjo.1... Hybrid_Cap...
ATM p.N625fs 11 108123615 108123616 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - T uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap...
ATM p.Q1579fs 11 108164163 108164164 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - A uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap...
ATM p.A2843V 11 108216579 108216579 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap... view
ATP10A p.V912D 15 25947088 25947088 CW2_LARGE_INTES... 37 Missense_Mutation SNP A T uc010ayu.2 Hybrid_Cap... view
ATP13A5 p.V763A 3 193031853 193031853 CW2_LARGE_INTES... 37 Missense_Mutation SNP A G uc011bsq.1 Hybrid_Cap... view
ATR p.R1814fs 3 142217557 142217557 CW2_LARGE_INTES... 37 Frame_Shift_Del Del T - uc003eux.3 Hybrid_Cap...
ATR p.I774fs 3 142274740 142274740 CW2_LARGE_INTES... 37 Frame_Shift_Del Del T - uc003eux.3 Hybrid_Cap...
ATRX p.S2379N X 76776330 76776330 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc004ecp.3 ATRX_uc004ecq.3... Hybrid_Cap... view
ATRX p.V2037_splice X 76845412 76845413 CW2_LARGE_INTES... 37 Splice_Site_Ins Ins - A uc004ecp.3 ATRX_uc004ecq.3... Hybrid_Cap...
ATRX p.P592H X 76938973 76938973 CW2_LARGE_INTES... 37 Missense_Mutation SNP G T uc004ecp.3 ATRX_uc004ecq.3... Hybrid_Cap... view
AURKB p.K203E 17 8109891 8109891 CW2_LARGE_INTES... 37 Missense_Mutation SNP T C uc002gkn.2 AURKB_uc010cnu.... Hybrid_Cap... view
AXIN1 p.P37fs 16 396916 396916 CW2_LARGE_INTES... 37 Frame_Shift_Del Del G - uc002cgp.1 AXIN1_uc002cgq.... Hybrid_Cap...
AXIN1 p.F167V 16 396527 396527 CW2_LARGE_INTES... 37 Missense_Mutation SNP A C uc002cgp.1 AXIN1_uc002cgq.... Hybrid_Cap... view
AXIN2 p.V347L 17 63537593 63537593 CW2_LARGE_INTES... 37 Missense_Mutation SNP C A uc002jfi.2 AXIN2_uc010den.... Hybrid_Cap... view
AXIN2 p.I139V 17 63554324 63554324 CW2_LARGE_INTES... 37 Missense_Mutation SNP T C uc002jfi.2 AXIN2_uc010den.... Hybrid_Cap... view
AXL p.V351M 19 41744431 41744431 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc010ehj.2 CYP2F1_uc010xvw... Hybrid_Cap... view
B3GALT6 p.P194fs 1 1168239 1168240 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - G uc001adk.2 SDF4_uc001adh.3... Hybrid_Cap...
BAI1 p.E648K 8 143562884 143562884 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc003ywm.2 Hybrid_Cap... view
BAI1 p.Q934R 8 143592418 143592418 CW2_LARGE_INTES... 37 Missense_Mutation SNP A G uc003ywm.2 Hybrid_Cap... view
BAI1 p.E1088fs 8 143605616 143605617 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - G uc003ywm.2 Hybrid_Cap...
BAI3 p.P391S 6 69653862 69653862 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BAI3 p.M722T 6 69758134 69758134 CW2_LARGE_INTES... 37 Missense_Mutation SNP T C uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BAI3 p.A946V 6 70034786 70034786 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BAI3 p.F950V 6 70034797 70034797 CW2_LARGE_INTES... 37 Missense_Mutation SNP T G uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BAI3 p.L1015F 6 70040405 70040405 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BAI3 p.E1413_splice 6 70071406 70071406 CW2_LARGE_INTES... 37 Splice_Site_SNP SNP T C uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BAP1 p.R508C 3 52437639 52437639 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc003ddx.2 BAP1_uc003ddw.2... Hybrid_Cap... view
BAP1 p.R208Q 3 52440881 52440881 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc003ddx.2 BAP1_uc003ddw.2... Hybrid_Cap... view
BAT3 p.P396fs 6 31612922 31612923 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - G uc003nvg.3 BAT3_uc003nvf.3... Hybrid_Cap...
BAX p.K123_splice 19 49459591 49459591 CW2_LARGE_INTES... 37 Splice_Site_SNP SNP G A uc002plf.1 BAX_uc002plg.1_... Hybrid_Cap... view
BCL10 p.S167fs 1 85733513 85733513 CW2_LARGE_INTES... 37 Frame_Shift_Del Del A - uc001dkz.2 Hybrid_Cap...
BCL11B p.R893S 14 99640494 99640494 CW2_LARGE_INTES... 37 Missense_Mutation SNP C A uc001yga.2 BCL11B_uc001ygb... Hybrid_Cap... view
BCL2A1 15 80253286 80253286 CW2_LARGE_INTES... 37 3'UTR SNP C T uc002bfc.3 BCL2A1_uc002bfd... Hybrid_Cap... view
BCL2L11 2 111886360 111886360 CW2_LARGE_INTES... 37 Intron SNP C T uc002tgv.1 BCL2L11_uc002tg... Hybrid_Cap... view
BCR 22 23657821 23657821 CW2_LARGE_INTES... 37 3'UTR SNP T C uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap... view
BIRC5 p.Q115R 17 76212798 76212798 CW2_LARGE_INTES... 37 Missense_Mutation SNP A G uc002jvf.2 BIRC5_uc002jve.... Hybrid_Cap... view
BIRC6 p.D198N 2 32605305 32605305 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc010ezu.2 Hybrid_Cap... view
BIRC6 p.G3292C 2 32733220 32733220 CW2_LARGE_INTES... 37 Missense_Mutation SNP G T uc010ezu.2 Hybrid_Cap... view
BLM p.A603V 15 91304411 91304411 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc002bpr.2 BLM_uc010uqh.1_... Hybrid_Cap... view
BLM p.H660fs 15 91306293 91306294 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - A uc002bpr.2 BLM_uc010uqh.1_... Hybrid_Cap...
BLNK 10 97951715 97951715 CW2_LARGE_INTES... 37 3'UTR Del T - uc001kls.3 BLNK_uc001kme.3... Hybrid_Cap...
BLNK 10 98031216 98031216 CW2_LARGE_INTES... 37 5'UTR SNP G A uc001kls.3 BLNK_uc001kme.3... Hybrid_Cap... view
BMF 15 40383889 40383889 CW2_LARGE_INTES... 37 3'UTR Del A - uc001zkv.2 BMF_uc001zkt.2_... Hybrid_Cap...
BMP2K p.D113E 4 79754777 79754777 CW2_LARGE_INTES... 37 Missense_Mutation SNP C A uc003hlk.2 BMP2K_uc010ijl.... Hybrid_Cap... view
BMP4 p.P369fs 14 54416870 54416870 CW2_LARGE_INTES... 37 Frame_Shift_Del Del G - uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap...
BMPR2 p.W16* 2 203242245 203242245 CW2_LARGE_INTES... 37 Nonsense_Mutation SNP G A uc002uzf.3 BMPR2_uc010ftr.... Hybrid_Cap... view
BMPR2 p.E581fs 2 203420130 203420130 CW2_LARGE_INTES... 37 Frame_Shift_Del Del A - uc002uzf.3 BMPR2_uc010ftr.... Hybrid_Cap...
BMX p.E651_splice X 15568122 15568122 CW2_LARGE_INTES... 37 Splice_Site_SNP SNP C T uc004cww.2 BMX_uc004cwx.3_... Hybrid_Cap... view
BRAF 7 140434295 140434295 CW2_LARGE_INTES... 37 3'UTR Del A - uc003vwc.3 Hybrid_Cap...
BRCA2 p.G637_splice 13 32907526 32907526 CW2_LARGE_INTES... 37 Splice_Site_SNP SNP T C uc001uub.1 Hybrid_Cap... view
BRCA2 p.E1285fs 13 32912346 32912346 CW2_LARGE_INTES... 37 Frame_Shift_Del Del A - uc001uub.1 Hybrid_Cap...
BRCA2 p.D1476G 13 32912919 32912919 CW2_LARGE_INTES... 37 Missense_Mutation SNP A G uc001uub.1 Hybrid_Cap... view
BRCA2 p.Q2934* 13 32953499 32953499 CW2_LARGE_INTES... 37 Nonsense_Mutation SNP C T uc001uub.1 Hybrid_Cap... view
BRD3 p.E564G 9 136901399 136901399 CW2_LARGE_INTES... 37 Missense_Mutation SNP T C uc004cew.2 BRD3_uc004cex.2... Hybrid_Cap... view
BRD3 p.P24fs 9 136918529 136918529 CW2_LARGE_INTES... 37 Frame_Shift_Del Del G - uc004cew.2 BRD3_uc004cex.2... Hybrid_Cap...
BRSK1 p.R154C 19 55800942 55800942 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc002qkf.2 BRSK1_uc002qkg.... Hybrid_Cap... view
BTK p.V138_splice X 100625068 100625068 CW2_LARGE_INTES... 37 Splice_Site_SNP SNP C A uc010nno.2 BTK_uc004ehg.2_... Hybrid_Cap... view
BUB1 2 111395467 111395468 CW2_LARGE_INTES... 37 3'UTR Ins - A uc002tgc.2 BUB1_uc010yxh.1... Hybrid_Cap...
C15ORF55 p.A478V 15 34647292 34647292 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc010ucc.1 C15orf55_uc010u... Hybrid_Cap... view
CABC1 p.N363S 17 35627673 35627673 CW2_LARGE_INTES... 37 Missense_Mutation SNP T C uc002hno.2 ACACA_uc002hnk.... Hybrid_Cap... view
CABC1 p.F81L 1 227152764 227152764 CW2_LARGE_INTES... 37 Missense_Mutation SNP T C uc001hqm.1 CABC1_uc010pvp.... Hybrid_Cap... view
CACNA1F p.E812K X 49076235 49076235 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc004dnb.2 CACNA1F_uc010ni... Hybrid_Cap... view
CACNA1F p.T573M X 49081415 49081415 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc004dnb.2 CACNA1F_uc010ni... Hybrid_Cap... view
CACNB2 p.A234T 10 18803194 18803194 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap... view
CACNB2 10 18803968 18803968 CW2_LARGE_INTES... 37 Intron SNP A T rs74927270 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap... view
CACNB2 p.D276D 10 18807288 18807288 CW2_LARGE_INTES... 37 Silent SNP T C uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap... view
CACNB2 10 18828721 18828722 CW2_LARGE_INTES... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAD p.P1264H 2 27458117 27458117 CW2_LARGE_INTES... 37 Missense_Mutation SNP C A uc002rji.2 CAD_uc010eyw.2_... Hybrid_Cap... view
CAD p.P1891H 2 27463959 27463959 CW2_LARGE_INTES... 37 Missense_Mutation SNP C A uc002rji.2 CAD_uc010eyw.2_... Hybrid_Cap... view
CAMK1 p.E236K 3 9802379 9802379 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc003bst.2 OGG1_uc003bsk.2... Hybrid_Cap... view
CAMK1D 10 12867767 12867767 CW2_LARGE_INTES... 37 Intron SNP T C uc001ilo.2 CAMK1D_uc001iln... Hybrid_Cap... view
CAMK1D p.S360L 10 12870807 12870807 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc001ilo.2 Hybrid_Cap... view
CAMK2B p.W215* 7 44282211 44282211 CW2_LARGE_INTES... 37 Nonsense_Mutation SNP C T uc003tkq.2 CAMK2B_uc003tkp... Hybrid_Cap... view
CARD10 p.KE272del 22 37906309 37906314 CW2_LARGE_INTES... 37 In_Frame_Del Del CTCCT... - uc003asx.1 CARD10_uc003ast... Hybrid_Cap...
CARD11 p.R498L 7 2974112 2974112 CW2_LARGE_INTES... 37 Missense_Mutation SNP C A uc003smv.2 Hybrid_Cap... view
CARD14 p.D977N 17 78182058 78182058 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc002jxw.1 CARD14_uc002jxt... Hybrid_Cap... view
CASC5 p.I120T 15 40903706 40903706 CW2_LARGE_INTES... 37 Missense_Mutation SNP T C uc010bbs.1 CASC5_uc010ucq.... Hybrid_Cap... view
CASC5 p.V871A 15 40914996 40914996 CW2_LARGE_INTES... 37 Missense_Mutation SNP T C uc010bbs.1 CASC5_uc010ucq.... Hybrid_Cap... view
CASC5 p.E1354fs 15 40916444 40916445 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - A uc010bbs.1 CASC5_uc010ucq.... Hybrid_Cap...
CASC5 p.P1743L 15 40917612 40917612 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc010bbs.1 CASC5_uc010ucq.... Hybrid_Cap... view
CASK X 41448893 41448893 CW2_LARGE_INTES... 37 Intron Del A - uc004dfl.3 CASK_uc004dfj.3... Hybrid_Cap...
CASK p.R279W X 41495911 41495911 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc004dfl.3 CASK_uc004dfk.3... Hybrid_Cap... view
CASP1 11 104905306 104905306 CW2_LARGE_INTES... 37 Intron SNP C T uc010rve.1 CASP1_uc001pig.... Hybrid_Cap... view
CASP3 p.R164H 4 185552304 185552304 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc003iwh.2 CASP3_uc003iwg.... Hybrid_Cap... view
CASP3 p.I139fs 4 185552986 185552987 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - T uc003iwh.2 CASP3_uc003iwg.... Hybrid_Cap...
CASP7 p.S63S 10 115457342 115457342 CW2_LARGE_INTES... 37 Silent SNP G A uc001lao.2 CASP7_uc001lam.... Hybrid_Cap... view
CATSPERB p.G584R 14 92091344 92091344 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc001xzs.1 CATSPERB_uc010a... Hybrid_Cap... view
CATSPERB p.Y298C 14 92150259 92150259 CW2_LARGE_INTES... 37 Missense_Mutation SNP T C uc001xzs.1 Hybrid_Cap... view
CBL p.P809H 11 119169242 119169242 CW2_LARGE_INTES... 37 Missense_Mutation SNP C A uc001pwe.2 Hybrid_Cap... view
CCDC56 p.59_60SS>S 17 40948079 40948081 CW2_LARGE_INTES... 37 In_Frame_Del Del GAG - uc010wgz.1 WNK4_uc002ibj.2... Hybrid_Cap...
CCDC56 17 40947617 40947617 CW2_LARGE_INTES... 37 3'UTR SNP A G uc010wgz.1 WNK4_uc002ibj.2... Hybrid_Cap... view
CCNA1 p.E129fs 13 37011855 37011856 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - C uc001uvr.3 CCNA1_uc010teo.... Hybrid_Cap...
CCNB1IP1 14 20779552 20779552 CW2_LARGE_INTES... 37 3'UTR Del T - uc001vwv.2 CCNB1IP1_uc001v... Hybrid_Cap...
CD160 1 145696755 145696755 CW2_LARGE_INTES... 37 Intron SNP T C uc001eol.1 NBPF10_uc001emp... Hybrid_Cap... view
CD40 20 44752007 44752007 CW2_LARGE_INTES... 37 Intron Del C - uc002xrg.1 CD40_uc002xrf.1... Hybrid_Cap...
CD44 p.H435H 11 35227681 35227681 CW2_LARGE_INTES... 37 Silent SNP T C uc001mvu.2 CD44_uc001mvv.2... Hybrid_Cap... view
CD79B 17 62007812 62007812 CW2_LARGE_INTES... 37 Intron SNP G T uc002jdp.1 CD79B_uc002jdo.... Hybrid_Cap... view
CDC25C p.F68V 5 137666902 137666902 CW2_LARGE_INTES... 37 Missense_Mutation SNP A C uc003lcs.1 CDC25C_uc003lcp... Hybrid_Cap... view
CDC42BPG p.R117Q 11 64608107 64608107 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc001obs.3 Hybrid_Cap... view
CDC73 p.G456D 1 193205436 193205436 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc001gtb.2 Hybrid_Cap... view
CDH1 p.Y450H 16 68849445 68849445 CW2_LARGE_INTES... 37 Missense_Mutation SNP T C uc002ewg.1 CDH1_uc010vlj.1... Hybrid_Cap... view
CDH1 p.A298T 16 68845646 68845646 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc002ewg.1 CDH1_uc010vlj.1... Hybrid_Cap... view
CDH11 p.E144V 16 65032557 65032557 CW2_LARGE_INTES... 37 Missense_Mutation SNP T A uc002eoi.2 CDH11_uc010cdn.... Hybrid_Cap... view
CDH2 18 25531981 25531981 CW2_LARGE_INTES... 37 3'UTR SNP T G uc002kwg.2 CDH2_uc010xbn.1... Hybrid_Cap... view
CDH2 p.P165L 18 25591862 25591862 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc002kwg.2 CDH2_uc010xbn.1... Hybrid_Cap... view
CDH3 p.A520V 16 68719242 68719242 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc002ewf.2 CDH3_uc010vli.1... Hybrid_Cap... view
CDH3 p.R815H 16 68732257 68732257 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc002ewf.2 CDH3_uc010vli.1... Hybrid_Cap... view
CDK11B 1 1654066 1654068 CW2_LARGE_INTES... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK12 p.R300K 17 37619223 37619223 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc010cvv.2 CDK12_uc010wef.... Hybrid_Cap... view
CDK12 p.I873N 17 37665966 37665966 CW2_LARGE_INTES... 37 Missense_Mutation SNP T A uc010cvv.2 CDK12_uc010wef.... Hybrid_Cap... view
CDK14 p.P124_splice 7 90376995 90376995 CW2_LARGE_INTES... 37 Splice_Site_SNP SNP G C uc003uky.2 CDK14_uc003ukt.... Hybrid_Cap... view
CDK16 p.K255R X 47084409 47084409 CW2_LARGE_INTES... 37 Missense_Mutation SNP A G uc011mll.1 CDK16_uc011mli.... Hybrid_Cap... view
CDK7 5 68551495 68551496 CW2_LARGE_INTES... 37 Intron Ins - A uc003jvs.3 CDK7_uc010ixd.1... Hybrid_Cap...
CDK8 p.F309S 13 26971355 26971355 CW2_LARGE_INTES... 37 Missense_Mutation SNP T C uc001uqr.1 CDK8_uc001uqs.1... Hybrid_Cap... view
CDKL4 p.G197D 2 39417508 39417508 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc010fal.1 CDKL4_uc002rrm.... Hybrid_Cap... view
CFI p.K37fs 4 110687927 110687927 CW2_LARGE_INTES... 37 Frame_Shift_Del Del T - uc011cft.1 CFI_uc003hzr.3_... Hybrid_Cap...
CHD1 p.K1503fs 5 98195690 98195691 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - T uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHD1 p.T943S 5 98217719 98217719 CW2_LARGE_INTES... 37 Missense_Mutation SNP T A uc003knf.2 Hybrid_Cap... view
CHD5 p.R1738W 1 6171872 6171872 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc001amb.1 CHD5_uc001alz.1... Hybrid_Cap... view
CHD5 p.I1137I 1 6189106 6189106 CW2_LARGE_INTES... 37 Silent SNP G A uc001amb.1 CHD5_uc001alz.1... Hybrid_Cap... view
CHD8 p.Q351* 14 21883895 21883895 CW2_LARGE_INTES... 37 Nonsense_Mutation SNP G A uc001was.1 CHD8_uc001war.1... Hybrid_Cap... view
CHD8 p.P287H 5 131322519 131322519 CW2_LARGE_INTES... 37 Missense_Mutation SNP G T uc003kvx.1 ACSL6_uc003kvv.... Hybrid_Cap... view
CHD9 p.T2732I 16 53358308 53358308 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CHD9 p.K2343N 16 53341841 53341841 CW2_LARGE_INTES... 37 Missense_Mutation SNP G T uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CHD9 p.K1868N 16 53330961 53330961 CW2_LARGE_INTES... 37 Missense_Mutation SNP A C uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CHD9 p.H758fs 16 53262999 53263000 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - T uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap...
CHD9 p.E822* 16 53265649 53265649 CW2_LARGE_INTES... 37 Nonsense_Mutation SNP G T uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CHEK2 p.V241_splice 22 29120963 29120963 CW2_LARGE_INTES... 37 Splice_Site_SNP SNP A G uc003adt.1 CHEK2_uc003ads.... Hybrid_Cap... view
CIC p.N193D 19 42791596 42791596 CW2_LARGE_INTES... 37 Missense_Mutation SNP A G uc002otf.1 Hybrid_Cap... view
CIC p.P897fs 19 42795609 42795609 CW2_LARGE_INTES... 37 Frame_Shift_Del Del C - uc002otf.1 Hybrid_Cap...
CIC p.E1433fs 19 42798427 42798428 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - G uc002otf.1 Hybrid_Cap...
CIT p.A1120T 12 120168428 120168428 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap... view
CIT p.R1104Q 12 120172008 120172008 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap... view
CIT p.L1074I 12 120172099 120172099 CW2_LARGE_INTES... 37 Missense_Mutation SNP G T uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap... view
CIT p.Q1015H 12 120173076 120173076 CW2_LARGE_INTES... 37 Missense_Mutation SNP T A uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap... view
CIT p.A846T 12 120195345 120195345 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap... view
CLK1 p.E219* 2 201724422 201724422 CW2_LARGE_INTES... 37 Nonsense_Mutation SNP C A uc010zhi.1 CLK1_uc002uwd.2... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 CW2_LARGE_INTES... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 p.D1635_splice 22 19167753 19167754 CW2_LARGE_INTES... 37 Splice_Site_Ins Ins - A uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN5 11 100095695 100095696 CW2_LARGE_INTES... 37 Intron Ins - A uc001pga.2 CNTN5_uc009ywv.... Hybrid_Cap...
CNTN5 p.W69G 11 99690424 99690424 CW2_LARGE_INTES... 37 Missense_Mutation SNP T G uc001pga.2 CNTN5_uc009ywv.... Hybrid_Cap... view
CNTN5 p.V102M 11 99715610 99715610 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc001pga.2 CNTN5_uc009ywv.... Hybrid_Cap... view
CNTN6 3 1339681 1339686 CW2_LARGE_INTES... 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CNTN6 3 1339694 1339694 CW2_LARGE_INTES... 37 Intron SNP T A uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap... view
CNTN6 p.T863fs 3 1427366 1427367 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - A uc003boz.2 CNTN6_uc011asj.... Hybrid_Cap...
CNTN6 p.S959P 3 1444059 1444059 CW2_LARGE_INTES... 37 Missense_Mutation SNP T C uc003boz.2 CNTN6_uc011asj.... Hybrid_Cap... view
COL14A1 p.F290F 8 121211798 121211798 CW2_LARGE_INTES... 37 Silent SNP T C uc003yox.2 COL14A1_uc003yo... Hybrid_Cap... view
COL14A1 p.A945T 8 121267559 121267559 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc003yox.2 COL14A1_uc003yo... Hybrid_Cap... view
COL4A3BP p.I391V 5 74712751 74712751 CW2_LARGE_INTES... 37 Missense_Mutation SNP T C uc003kdt.2 COL4A3BP_uc011c... Hybrid_Cap... view
COPS5 8 67955456 67955456 CW2_LARGE_INTES... 37 3'UTR SNP C A uc003xxe.2 COPS5_uc003xxd.... Hybrid_Cap... view
COPS5 p.K244E 8 67963506 67963506 CW2_LARGE_INTES... 37 Missense_Mutation SNP T C uc003xxe.2 COPS5_uc003xxd.... Hybrid_Cap... view
CPAMD8 p.R1115M 19 17038986 17038986 CW2_LARGE_INTES... 37 Missense_Mutation SNP C A uc002nfb.2 Hybrid_Cap... view
CPAMD8 p.G1051fs 19 17039884 17039884 CW2_LARGE_INTES... 37 Frame_Shift_Del Del C - uc002nfb.2 Hybrid_Cap...
CPAMD8 p.T335P 19 17111229 17111229 CW2_LARGE_INTES... 37 Missense_Mutation SNP T G uc002nfb.2 Hybrid_Cap... view
CREBBP p.R14fs 16 3929877 3929878 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - T uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap...
CRP p.L55I 1 159683827 159683827 CW2_LARGE_INTES... 37 Missense_Mutation SNP G T uc001ftw.2 CRP_uc001ftx.1_... Hybrid_Cap... view
CRTC1 p.S585fs 19 18887992 18887993 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - C uc010ebv.2 CRTC1_uc002nkb.... Hybrid_Cap...
CSF3R p.D729G 1 36932364 36932364 CW2_LARGE_INTES... 37 Missense_Mutation SNP T C uc001cax.1 MRPS15_uc001cas... Hybrid_Cap... view
CSMD3 p.C3438Y 8 113256712 113256712 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 p.Q2085* 8 113364647 113364647 CW2_LARGE_INTES... 37 Nonsense_Mutation SNP G A uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 p.G2011R 8 113395796 113395796 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSNK1A1 5 148876179 148876179 CW2_LARGE_INTES... 37 3'UTR SNP G A uc003lqw.1 CSNK1A1_uc011dc... Hybrid_Cap... view
CSNK1A1L p.K230fs 13 37678703 37678704 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - T rs56252523 uc001uwm.1 Hybrid_Cap...
CSNK1A1L p.Q222* 13 37678730 37678730 CW2_LARGE_INTES... 37 Nonsense_Mutation SNP G A uc001uwm.1 Hybrid_Cap... view
CSNK1G1 p.L94F 15 64543723 64543723 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc002anh.1 CSNK1G1_uc002an... Hybrid_Cap... view
CSNK1G3 5 122950255 122950257 CW2_LARGE_INTES... 37 3'UTR Del TTT - uc003ktl.2 CSNK1G3_uc003kt... Hybrid_Cap...
CSNK2A1 20 464582 464582 CW2_LARGE_INTES... 37 3'UTR SNP G A uc002wdw.1 CSNK2A1_uc002wd... Hybrid_Cap... view
CSPG4 p.V1425_splice 15 75977255 75977255 CW2_LARGE_INTES... 37 Splice_Site_SNP SNP T C uc002baw.2 Hybrid_Cap... view
CSPP1 p.R1130H 8 68102963 68102963 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc003xxi.2 ARFGEF1_uc003xx... Hybrid_Cap... view
CTBP2 p.P936L 10 126678238 126678238 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap... view
CTBP2 p.G546W 10 126714693 126714693 CW2_LARGE_INTES... 37 Missense_Mutation SNP C A uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap... view
CTBP2 p.V136A 10 126715922 126715922 CW2_LARGE_INTES... 37 Missense_Mutation SNP A G uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap... view
CTNNA2 p.A278S 2 80101448 80101448 CW2_LARGE_INTES... 37 Missense_Mutation SNP G T uc010ysh.1 CTNNA2_uc010yse... Hybrid_Cap... view
CTNNB1 p.R582Q 3 41277276 41277276 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc010hia.1 CTNNB1_uc003ckp... Hybrid_Cap... view
CTSL1 p.T84I 9 90343166 90343166 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc004aph.2 CTSL1_uc004api.... Hybrid_Cap... view
CTSL1 p.G156V 9 90343570 90343570 CW2_LARGE_INTES... 37 Missense_Mutation SNP G T uc004aph.2 CTSL1_uc004api.... Hybrid_Cap... view
CXCL9 p.K108fs 4 76924805 76924806 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - TT uc003hjh.1 Hybrid_Cap...
CYB5R4 p.Q245fs 6 84634230 84634231 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - A uc003pkf.2 Hybrid_Cap...
CYCS 7 25163266 25163267 CW2_LARGE_INTES... 37 3'UTR Ins - A uc003sxl.2 Hybrid_Cap...
CYFIP1 p.P40_splice 15 22925974 22925974 CW2_LARGE_INTES... 37 Splice_Site_SNP SNP A G uc001yus.2 CYFIP1_uc001yut... Hybrid_Cap... view
CYFIP1 p.R331_splice 15 22939267 22939267 CW2_LARGE_INTES... 37 Splice_Site_SNP SNP G A uc001yus.2 CYFIP1_uc001yut... Hybrid_Cap... view
CYFIP1 p.R440C 15 22947045 22947045 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc001yus.2 CYFIP1_uc001yut... Hybrid_Cap... view
CYFIP1 15 22956174 22956174 CW2_LARGE_INTES... 37 Intron SNP T G uc001yus.2 CYFIP1_uc001yut... Hybrid_Cap... view
CYFIP1 15 22956297 22956297 CW2_LARGE_INTES... 37 Intron SNP G A uc001yus.2 CYFIP1_uc001yut... Hybrid_Cap... view
CYFIP1 15 22956309 22956309 CW2_LARGE_INTES... 37 Intron SNP G A uc001yus.2 CYFIP1_uc001yut... Hybrid_Cap... view
CYFIP1 15 23003048 23003048 CW2_LARGE_INTES... 37 3'UTR SNP C T uc001yus.2 CYFIP1_uc001yut... Hybrid_Cap... view
CYLD 16 50820672 50820673 CW2_LARGE_INTES... 37 Intron Ins - A rs117241863 uc002egp.1 CYLD_uc002ego.2... Hybrid_Cap...
CYP19A1 15 51502936 51502936 CW2_LARGE_INTES... 37 3'UTR SNP C T uc001zyz.3 CYP19A1_uc001zz... Hybrid_Cap... view
CYP1B1 2 38297654 38297655 CW2_LARGE_INTES... 37 3'UTR Ins - A rs9341258 uc002rqo.2 Hybrid_Cap...
DACH1 p.G165D 13 72440408 72440408 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc010thn.1 DACH1_uc010tho.... Hybrid_Cap... view
DAPK1 p.V1051M 9 90321137 90321137 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc004apc.2 DAPK1_uc004apd.... Hybrid_Cap... view
DBN1 5 176894739 176894739 CW2_LARGE_INTES... 37 Intron SNP C T uc003mgx.2 DBN1_uc003mgy.2... Hybrid_Cap... view
DCLK2 p.T158fs 4 151023682 151023683 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - A uc003ilo.3 DCLK2_uc003ilm.... Hybrid_Cap...
DCLK3 p.M1I 3 36780148 36780148 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc003cgi.2 Hybrid_Cap... view
DDB2 11 47260504 47260504 CW2_LARGE_INTES... 37 3'UTR Del A - uc001neb.2 DDB2_uc001nec.2... Hybrid_Cap...
DDR2 1 162750211 162750214 CW2_LARGE_INTES... 37 3'UTR Del TTTT - rs71695465 uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap...
DDX1 p.G583S 2 15768629 15768629 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc002rce.2 DDX1_uc010yjq.1... Hybrid_Cap... view
DDX6 p.G233* 11 118633965 118633965 CW2_LARGE_INTES... 37 Nonsense_Mutation SNP C A uc001pub.2 DDX6_uc001puc.2... Hybrid_Cap... view
DEK p.T199fs 6 18250048 18250049 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - T uc003ncr.1 DEK_uc011djf.1_... Hybrid_Cap...
DFFB p.L131M 1 3782453 3782453 CW2_LARGE_INTES... 37 Missense_Mutation SNP C A uc010nzn.1 DFFB_uc001alc.2... Hybrid_Cap... view
DGCR14 22 19118772 19118772 CW2_LARGE_INTES... 37 3'UTR SNP G A uc002zou.2 DGCR14_uc002zot... Hybrid_Cap... view
DGKB 7 14188732 14188732 CW2_LARGE_INTES... 37 3'UTR SNP T C uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap... view
DGKB p.A519V 7 14620543 14620543 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap... view
DICER1 14 95556791 95556792 CW2_LARGE_INTES... 37 3'UTR Ins - T uc001ydw.2 DICER1_uc010avh... Hybrid_Cap...
DICER1 p.P1377S 14 95566194 95566194 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc001ydw.2 DICER1_uc010avh... Hybrid_Cap... view
DIP2C p.R83* 10 518400 518400 CW2_LARGE_INTES... 37 Nonsense_Mutation SNP G A uc001ifp.2 DIP2C_uc009xhk.... Hybrid_Cap... view
DLC1 p.F843L 8 12957317 12957317 CW2_LARGE_INTES... 37 Missense_Mutation SNP G T uc003wwm.2 DLC1_uc003wwk.1... Hybrid_Cap... view
DLL1 p.R380W 6 170594118 170594118 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc003qxm.2 Hybrid_Cap... view
DLL1 p.G118S 6 170597877 170597877 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc003qxm.2 DLL1_uc011ehc.1... Hybrid_Cap... view
DLL4 p.A493T 15 41228662 41228662 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc001zng.1 Hybrid_Cap... view
DMPK 19 46283130 46283130 CW2_LARGE_INTES... 37 Intron Del G - uc002pdi.1 DMPK_uc010xxs.1... Hybrid_Cap...
DNAH8 p.C18Y 6 38702343 38702343 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc003ooe.1 DNAH8_uc003ood.... Hybrid_Cap... view
DNAH8 p.A102V 6 38705588 38705588 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc003ooe.1 Hybrid_Cap... view
DNAH8 p.I259V 6 38723766 38723766 CW2_LARGE_INTES... 37 Missense_Mutation SNP A G uc003ooe.1 Hybrid_Cap... view
DNAH8 p.R628* 6 38754678 38754678 CW2_LARGE_INTES... 37 Nonsense_Mutation SNP A T uc003ooe.1 Hybrid_Cap... view
DNAH8 p.G925R 6 38783334 38783334 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc003ooe.1 Hybrid_Cap... view
DNAH8 p.F1470fs 6 38816439 38816440 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - A uc003ooe.1 Hybrid_Cap...
DNMT3B p.E451fs 20 31384650 31384651 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - GG uc002wyc.2 DNMT3B_uc010ztx... Hybrid_Cap...
DST p.R1733H 6 56465006 56465006 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST 6 56485019 56485020 CW2_LARGE_INTES... 37 Intron Ins - T uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap...
DST p.P765S 6 56505039 56505039 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DSTYK 1 205129215 205129215 CW2_LARGE_INTES... 37 Intron SNP A G uc001hbw.2 DSTYK_uc001hbx.... Hybrid_Cap... view
DVL1 p.W411* 1 1273933 1273933 CW2_LARGE_INTES... 37 Nonsense_Mutation SNP C T uc001aer.3 DVL1_uc002quu.2... Hybrid_Cap... view
DVL1 p.R202_splice 1 1277046 1277046 CW2_LARGE_INTES... 37 Splice_Site_SNP SNP C T uc001aer.3 DVL1_uc002quu.2... Hybrid_Cap... view
DYRK1A p.I221M 21 38858915 38858915 CW2_LARGE_INTES... 37 Missense_Mutation SNP A G uc002ywk.2 DYRK1A_uc002ywh... Hybrid_Cap... view
DYRK3 p.I299fs 1 206821440 206821441 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - AA uc001hej.2 DYRK3_uc001hek.... Hybrid_Cap...
DYRK4 p.K435fs 2 148683686 148683686 CW2_LARGE_INTES... 37 Frame_Shift_Del Del A - uc002twg.2 ACVR2A_uc010zbn... Hybrid_Cap...
DYRK4 12 4722988 4722988 CW2_LARGE_INTES... 37 3'UTR SNP A G uc001qmx.2 DYRK4_uc001qmy.... Hybrid_Cap... view
ECM1 1 150482565 150482565 CW2_LARGE_INTES... 37 Intron SNP C T uc001euu.2 ECM1_uc010pce.1... Hybrid_Cap... view
EDN1 6 12290729 12290729 CW2_LARGE_INTES... 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EDNRA p.R183R 4 148453658 148453658 CW2_LARGE_INTES... 37 Silent SNP G A uc003iky.2 EDNRA_uc011cid.... Hybrid_Cap... view
EEF2K p.Q286K 16 22268661 22268661 CW2_LARGE_INTES... 37 Missense_Mutation SNP C A uc002dki.2 EEF2K_uc002dkh.... Hybrid_Cap... view
EGF p.E473fs 4 110884434 110884434 CW2_LARGE_INTES... 37 Frame_Shift_Del Del A - uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap...
EGF 4 110932630 110932630 CW2_LARGE_INTES... 37 3'UTR SNP A G uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap... view
EGFR p.E543fs 7 55229322 55229322 CW2_LARGE_INTES... 37 Frame_Shift_Del Del G - uc003tqk.2 EGFR_uc003tqi.2... Hybrid_Cap...
EGFR p.E928G 7 55266491 55266491 CW2_LARGE_INTES... 37 Missense_Mutation SNP A G uc003tqk.2 EGFR_uc010kzg.1... Hybrid_Cap... view
EIF2AK3 2 88857191 88857191 CW2_LARGE_INTES... 37 3'UTR SNP G A uc002stc.3 Hybrid_Cap... view
EIF2AK3 p.A342V 2 88890101 88890101 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc002stc.3 Hybrid_Cap... view
EIF2AK4 p.Q318fs 15 40257981 40257982 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - A uc001zkm.1 EIF2AK4_uc001zk... Hybrid_Cap...
EIF2AK4 p.I854fs 15 40282507 40282508 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - T uc001zkm.1 EIF2AK4_uc010bb... Hybrid_Cap...
EIF3A p.R889H 10 120803647 120803647 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc001ldu.2 EIF3A_uc010qsu.... Hybrid_Cap... view
EIF4G1 p.Y127C 3 184035539 184035539 CW2_LARGE_INTES... 37 Missense_Mutation SNP A G uc010hxx.2 EIF4G1_uc003fno... Hybrid_Cap... view
ELAVL1 19 8028348 8028348 CW2_LARGE_INTES... 37 3'UTR Del A - uc002mjb.2 Hybrid_Cap...
ELK1 X 47500596 47500596 CW2_LARGE_INTES... 37 Intron Del G - uc004dik.3 ELK1_uc010nhv.2... Hybrid_Cap...
ELL p.S319L 19 18562372 18562372 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc002njh.2 ELL_uc010ebq.2_... Hybrid_Cap... view
ELL p.G20D 19 18632807 18632807 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc002njh.2 ELL_uc010ebq.2_... Hybrid_Cap... view
ELN p.A458V 7 73471985 73471985 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc003tzw.2 RFC2_uc011kfa.1... Hybrid_Cap... view
EML4 p.E116fs 2 42488268 42488269 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - A uc002rsi.2 EML4_uc002rsh.3... Hybrid_Cap...
EML4 2 42513293 42513293 CW2_LARGE_INTES... 37 Intron SNP A T uc002rsi.2 EML4_uc010fap.2... Hybrid_Cap... view
EP300 22 41488881 41488881 CW2_LARGE_INTES... 37 5'UTR SNP C T uc003azl.3 Hybrid_Cap... view
EP300 p.R1773Q 22 41573033 41573033 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc003azl.3 Hybrid_Cap... view
EP300 p.G2159* 22 41574190 41574190 CW2_LARGE_INTES... 37 Nonsense_Mutation SNP G T uc003azl.3 Hybrid_Cap... view
EPHA1 p.G360fs 7 143095951 143095951 CW2_LARGE_INTES... 37 Frame_Shift_Del Del C - uc003wcz.2 Hybrid_Cap...
EPHA2 p.A770T 1 16458576 16458576 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc001aya.1 Hybrid_Cap... view
EPHA4 p.Q358H 2 222347316 222347316 CW2_LARGE_INTES... 37 Missense_Mutation SNP C A uc002vmq.2 EPHA4_uc002vmr.... Hybrid_Cap... view
EPHA5 p.G409D 4 66356271 66356271 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap... view
EPHA6 3 97367188 97367188 CW2_LARGE_INTES... 37 Intron SNP C T uc010how.1 EPHA6_uc003drs.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 CW2_LARGE_INTES... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHA6 p.P933S 3 97439117 97439117 CW2_LARGE_INTES... 37 Missense_Mutation SNP C T uc010how.1 EPHA6_uc003drt.... Hybrid_Cap... view
EPHA7 p.D860V 6 93956657 93956657 CW2_LARGE_INTES... 37 Missense_Mutation SNP T A uc003poe.2 EPHA7_uc003pof.... Hybrid_Cap... view
EPHA7 6 94129074 94129074 CW2_LARGE_INTES... 37 5'UTR SNP T C uc003poe.2 EPHA7_uc003pof.... Hybrid_Cap... view
EPHB1 p.A886S 3 134967317 134967317 CW2_LARGE_INTES... 37 Missense_Mutation SNP G T uc003eqt.2 EPHB1_uc003equ.... Hybrid_Cap... view
EPHB2 p.R572H 1 23222921 23222921 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc009vqj.1 EPHB2_uc001bge.... Hybrid_Cap... view
EPHB2 p.R975Q 1 23240026 23240026 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc009vqj.1 EPHB2_uc001bge.... Hybrid_Cap... view
EPHB4 p.R102W 7 100421373 100421373 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc003uwn.1 EPHB4_uc003uwm.... Hybrid_Cap... view
EPHB6 p.V405D 7 142563826 142563826 CW2_LARGE_INTES... 37 Missense_Mutation SNP T A uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap... view
EPHB6 p.R934_splice 7 142568161 142568161 CW2_LARGE_INTES... 37 Splice_Site_SNP SNP G A uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap... view
EPS15 p.A423G 1 51875214 51875214 CW2_LARGE_INTES... 37 Missense_Mutation SNP G C uc001csq.1 EPS15_uc009vyz.... Hybrid_Cap... view
ERBB2 17 37868314 37868315 CW2_LARGE_INTES... 37 Intron Ins - C uc002hso.2 ERBB2_uc002hsm.... Hybrid_Cap...
ERBB2 p.L755S 17 37880220 37880220 CW2_LARGE_INTES... 37 Missense_Mutation SNP T C uc002hso.2 ERBB2_uc002hsm.... Hybrid_Cap... view
ERBB3 p.E928G 12 56492633 56492633 CW2_LARGE_INTES... 37 Missense_Mutation SNP A G uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap... view
ERC1 p.A124T 12 1137439 1137439 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc001qjb.2 ERC1_uc001qiz.2... Hybrid_Cap... view
ERCC3 2 128047642 128047642 CW2_LARGE_INTES... 37 Intron SNP G A uc002toh.1 ERCC3_uc002toe.... Hybrid_Cap... view
ERCC4 p.K915fs 16 14042196 14042196 CW2_LARGE_INTES... 37 Frame_Shift_Del Del A - uc002dce.2 ERCC4_uc010uyz.... Hybrid_Cap...
ERCC6 p.L1427F 10 50667064 50667064 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc001jhs.3 ERCC6_uc009xod.... Hybrid_Cap... view
ERCC6 p.S813fs 10 50682233 50682234 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - A uc001jhs.3 ERCC6_uc009xod.... Hybrid_Cap...
ERCC6 p.G715fs 10 50690758 50690758 CW2_LARGE_INTES... 37 Frame_Shift_Del Del C - uc001jhs.3 ERCC6_uc010qgr.... Hybrid_Cap...
ERCC6 p.P219L 10 50732820 50732820 CW2_LARGE_INTES... 37 Missense_Mutation SNP G A uc001jhs.3 PGBD3_uc001jht.... Hybrid_Cap... view
ERLIN2 8 37602395 37602395 CW2_LARGE_INTES... 37 Intron SNP T C uc003xke.3 ERLIN2_uc003xkc... Hybrid_Cap... view
ERLIN2 8 37611677 37611678 CW2_LARGE_INTES... 37 3'UTR Ins - T uc003xke.3 Hybrid_Cap...
ESR1 p.E325fs 6 152265516 152265517 CW2_LARGE_INTES... 37 Frame_Shift_Ins Ins - C uc010kio.2 ESR1_uc003qom.3... Hybrid_Cap...
ETV1 p.E439G 7 13935609 13935609 CW2_LARGE_INTES... 37 Missense_Mutation SNP T C uc011jxq.1 ETV1_uc011jxn.1...