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Results for "Cukier2014"

Variant Events: 518

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
BTN2A2     Cukier2014:37425chr6:
26384060-26384060		CTexonicUnknownnonsynonymous SNVNM_001197237
NM_001197238
NM_001197239
NM_001197240
NM_006995
NM_181531		c.C11T
c.C11T
c.C11T
c.C11T
c.C11T
c.C11T		p.A4V
p.A4V
p.A4V
p.A4V
p.A4V
p.A4V		13.910.007Cukier2014 E
BTN2A2     Cukier2014:37425chr6:
26385263-26385263		CGexonicUnknownnonsynonymous SNVNM_001197237
NM_001197238
NM_001197240
NM_006995		c.C115G
c.C115G
c.C115G
c.C115G		p.P39A
p.P39A
p.P39A
p.P39A		11.720.007Cukier2014 E
BPHL     Cukier2014:7531chr6:
3140676-3140676		GAexonicUnknownnonsynonymous SNVNM_004332
NM_001302777		c.G721A
c.G670A		p.G241S
p.G224S		25.24.119E-5Cukier2014 E
BPHL     Cukier2014:7531chr6:
3152781-3152781		AGexonicUnknownnonsynonymous SNVNM_004332
NM_001302777		c.A848G
c.A797G		p.N283S
p.N266S		21.90.002Cukier2014 E
C12orf49     Cukier2014:7590chr12:
117175608-117175608		CTexonicUnknownnonsynonymous SNVNM_024738c.G98Ap.S33N18.630.0204Cukier2014 E
C12orf65     Cukier2014:7531chr12:
123738265-123738265		GAexonicUnknownnonsynonymous SNVNM_001143905
NM_001194995
NM_152269		c.G44A
c.G44A
c.G44A		p.R15Q
p.R15Q
p.R15Q		21.00.0194Cukier2014 E
LCOR     Cukier2014:37425chr10:
98741973-98741973		AGexonicUnknownnonsynonymous SNVNM_015652c.A826Gp.K276E6.7230.0013Cukier2014 E
C10orf128     Cukier2014:7936chr10:
50376004-50376004		AGexonicUnknownnonsynonymous SNVNM_001010863
NM_001288740
NM_001288741
NM_001288742
NM_001288743		c.T47C
c.T47C
c.T47C
c.T47C
c.T47C		p.V16A
p.V16A
p.V16A
p.V16A
p.V16A		13.670.037Cukier2014 E
C16orf89     Cukier2014:7870chr16:
5115751-5115751		CAexonicUnknownnonsynonymous SNVNM_001098514
NM_152459		c.G159T
c.G159T		p.R53S
p.R53S		15.480.0051Cukier2014 E
HEATR9     Cukier2014:37150chr17:
34186056-34186056		CGexonicUnknownnonsynonymous SNVNM_152781c.G775Cp.E259Q20.51.652E-5Cukier2014 E
C12orf73     Cukier2014:37994chr12:
104350408-104350408		CTsplicingUnknownsplicing19.330.002Cukier2014 E
NRDE2     Cukier2014:37024chr14:
90756862-90756862		CGexonicUnknownnonsynonymous SNVNM_017970c.G1932Cp.L644F16.350.0079Cukier2014 E
R3HDM4     Cukier2014:7531chr19:
900951-900951		AGexonicUnknownnonsynonymous SNVNM_138774c.T353Cp.V118A11.680.0491Cukier2014 E
C19orf57     Cukier2014:37674chr19:
13993709-13993709		CTexonicUnknownnonsynonymous SNVNM_024323c.G1820Ap.R607Q14.820.0046Cukier2014 E
HEATR9     Cukier2014:17678chr17:
34192351-34192351		GAexonicUnknownnonsynonymous SNVNM_152781c.C188Tp.P63L11.790.0082Cukier2014 E
FAAP100     Cukier2014:37994chr17:
79517729-79517729		GAexonicUnknownnonsynonymous SNVNM_025161c.C791Tp.A264V14.740.0033Cukier2014 E
C1QTNF6     Cukier2014:17342chr22:
37578388-37578388		CTexonicUnknownnonsynonymous SNVNM_031910
NM_182486		c.G677A
c.G677A		p.R226H
p.R226H		32.00.0276Cukier2014 E
TLDC2     Cukier2014:37994chr20:
35521264-35521264		GTsplicingUnknownsplicing7.80.0044Cukier2014 E
FYB2     Cukier2014:3836chr1:
57254697-57254697		GAexonicUnknownnonsynonymous SNVNM_001004303c.C868Tp.L290F15.920.0279Cukier2014 E
C1orf27     Cukier2014:7936chr1:
186368092-186368092		ACexonicUnknownnonsynonymous SNVNM_001164245
NM_001164246
NM_017847		c.A847C
c.A820C
c.A916C		p.K283Q
p.K274Q
p.K306Q		18.680.0161Cukier2014 E
C2CD3     Cukier2014:37037chr11:
73850002-73850002		GCexonicUnknownnonsynonymous SNVNM_001286577
NM_015531		c.C718G
c.C718G		p.H240D
p.H240D		10.890.0121Cukier2014 E
TEX37     Cukier2014:7936chr2:
88828961-88828961		GAexonicUnknownnonsynonymous SNVNM_152670c.G512Ap.R171Q18.77.0E-4Cukier2014 E
SPATA25     Cukier2014:7503chr20:
44515322-44515322		CTexonicUnknownnonsynonymous SNVNM_080608c.G518Ap.R173Q20.80.0032Cukier2014 E
APMAP     Cukier2014:7936chr20:
24952147-24952147		GAexonicUnknownnonsynonymous SNVNM_020531c.C487Tp.L163F21.20.0248Cukier2014 E
SDHAF4     Cukier2014:17678chr6:
71298323-71298323		CTexonicUnknownnonsynonymous SNVNM_145267c.C223Tp.P75S29.70.0139Cukier2014 E
TMEM243     Cukier2014:37037chr7:
86827302-86827302		GTexonicUnknownnonsynonymous SNVNM_024315c.C189Ap.F63L24.90.0034Cukier2014 E
RTP5     Cukier2014:18074chr2:
242814639-242814639		TCexonicUnknownnonsynonymous SNVNM_173821c.T932Cp.L311P5.8210.0874Cukier2014 E
RTP5     Cukier2014:18074chr2:
242815059-242815059		CTexonicUnknownnonsynonymous SNVNM_173821c.C1352Tp.A451V13.010.0884Cukier2014 E
C9     Cukier2014:37425chr5:
39289043-39289043		AGexonicUnknownnonsynonymous SNVNM_001737c.T1427Cp.I476T20.70.0011Cukier2014 E
C9orf50     Cukier2014:37674chr9:
132375739-132375739		AGexonicUnknownnonsynonymous SNVNM_199350c.T1018Cp.S340P14.010.005Cukier2014 E
C7orf26     Cukier2014:17245chr7:
6631481-6631481		GTexonicUnknownnonsynonymous SNVNM_001303039
NM_024067		c.G340T
c.G397T		p.A114S
p.A133S		27.7-Cukier2014 E
C7orf57     Cukier2014:7936chr7:
48086151-48086151		GAexonicUnknownnonsynonymous SNVNM_001267865
NM_001267866
NM_001100159		c.G79A
c.G79A
c.G445A		p.D27N
p.D27N
p.D149N		17.670.0093Cukier2014 E
CCDC141     Cukier2014:7658chr2:
179733939-179733939		CTexonicUnknownnonsynonymous SNVNM_173648c.G2299Ap.D767N27.40.0039Cukier2014 E
CCDC38     Cukier2014:37994chr12:
96272113-96272113		AGexonicUnknownnonsynonymous SNVNM_182496c.T1154Cp.I385T15.542.0E-4Cukier2014 E
RNF133     Cukier2014:17342chr7:
122338970-122338970		CTexonicUnknownnonsynonymous SNVNM_139175c.G3Ap.M1I15.430.0415Cukier2014 E
CATSPER4     Cukier2014:37232chr1:
26517811-26517811		AGexonicUnknownnonsynonymous SNVNM_198137c.A247Gp.M83V15.240.0066Cukier2014 E
CCDC81     Cukier2014:37150chr11:
86126337-86126337		TGexonicUnknownnonsynonymous SNVNM_021827
NM_001156474		c.T1403G
c.T1673G		p.L468R
p.L558R		19.460.0174Cukier2014 E
CCIN     Cukier2014:7590chr9:
36169894-36169894		AGexonicUnknownnonsynonymous SNVNM_005893c.A395Gp.N132S14.990.0198Cukier2014 E
CCDC74A     Cukier2014:17351chr2:
132287879-132287879		GAintronicUnknown11.827.097E-5Cukier2014 E
CCDC74A     Cukier2014:37037chr2:
132290912-132290912		GAexonicUnknownnonsynonymous SNVNM_001258304
NM_001258306
NM_138770		c.G1069A
c.G880A
c.G1078A		p.E357K
p.E294K
p.E360K		15.00.0124Cukier2014 E
CCRL2     Cukier2014:17351chr3:
46449863-46449863		GAexonicUnknownnonsynonymous SNVNM_001130910
NM_003965		c.G329A
c.G293A		p.G110E
p.G98E		0.870.0126Cukier2014 E
CD34     Cukier2014:7713chr1:
208073205-208073205		CAexonicUnknownnonsynonymous SNVNM_001025109
NM_001773		c.G223T
c.G223T		p.V75L
p.V75L		9.9830.0239Cukier2014 E
CCL14     Cukier2014:37232chr17:
34313612-34313612		GAexonicUnknownnonsynonymous SNVNM_032962
NM_032963		c.C74T
c.C74T		p.S25F
p.S25F		13.770.0268Cukier2014 E
CCR5     Cukier2014:17122chr3:
46414557-46414557		TAexonicUnknownnonsynonymous SNVNM_000579
NM_001100168		c.T164A
c.T164A		p.L55Q
p.L55Q		16.50.0127Cukier2014 E
CDH11     Cukier2014:17122chr16:
65016165-65016165		CGexonicUnknownnonsynonymous SNVNM_001308392
NM_001797		c.G1039C
c.G1039C		p.V347L
p.V347L		20.80.0192Cukier2014 E
CDH23     Cukier2014:17122chr10:
73537449-73537449		GAexonicUnknownnonsynonymous SNVNM_022124c.G4858Ap.V1620M18.680.0227Cukier2014 E
CDAN1     Cukier2014:7658chr15:
43022806-43022806		GAexonicUnknownnonsynonymous SNVNM_138477c.C2164Tp.R722C18.760.0012Cukier2014 E
CDH1     Cukier2014:7936chr16:
68855966-68855966		GAexonicUnknownnonsynonymous SNVNM_001317184
NM_001317185
NM_004360		c.G1591A
c.G226A
c.G1774A		p.A531T
p.A76T
p.A592T		15.260.0032Cukier2014 E
CDHR1     Cukier2014:7590chr10:
85972932-85972932		AGexonicUnknownnonsynonymous SNVNM_001171971
NM_033100		c.A1868G
c.A1868G		p.N623S
p.N623S		10.030.0041Cukier2014 E
CDKAL1     Cukier2014:7872chr6:
20546697-20546697		GAexonicUnknownnonsynonymous SNVNM_017774c.G116Ap.R39Q22.60.0054Cukier2014 E
CDH26     Cukier2014:17122chr20:
58559852-58559852		GTexonicUnknownnonsynonymous SNVNM_177980c.G700Tp.D234Y12.784.0E-4Cukier2014 E
CDH9     Cukier2014:17351chr5:
26885797-26885797		TCexonicUnknownnonsynonymous SNVNM_016279c.A1808Gp.E603G20.20.0069Cukier2014 E
CEP290     Cukier2014:37425chr12:
88472996-88472996		CTexonicUnknownnonsynonymous SNVNM_025114c.G5237Ap.R1746Q16.750.0119Cukier2014 E
CEP290     Cukier2014:37117chr12:
88508258-88508258		TCexonicUnknownnonsynonymous SNVNM_025114c.A1991Gp.D664G16.640.0161Cukier2014 E
CENPE     Cukier2014:17678chr4:
104080217-104080217		ACexonicUnknownnonsynonymous SNVNM_001286734
NM_001813		c.T2476G
c.T2551G		p.S826A
p.S851A		11.570.0048Cukier2014 E
CEP250     Cukier2014:37425chr20:
34064340-34064340		CTexonicUnknownnonsynonymous SNVNM_007186c.C1783Tp.R595W23.14.945E-5Cukier2014 E
CGREF1     Cukier2014:7713chr2:
27324669-27324669		CTexonicUnknownnonsynonymous SNVNM_001166239
NM_006569		c.G430A
c.G430A		p.G144R
p.G144R		27.70.0194Cukier2014 E
CGRRF1     Cukier2014:37425chr14:
54997751-54997751		CTexonicUnknownnonsynonymous SNVNM_006568c.C553Tp.R185W18.830.0074Cukier2014 E
CEP68     Cukier2014:18074chr2:
65299420-65299420		TCexonicUnknownnonsynonymous SNVNM_015147c.T1190Cp.L397P12.520.0147Cukier2014 E
CGN     Cukier2014:17678chr1:
151491836-151491836		CTexonicUnknownnonsynonymous SNVNM_020770c.C841Tp.R281W19.020.002Cukier2014 E
CIC     Cukier2014:37037chr19:
42798982-42798982		CTexonicUnknownnonsynonymous SNVNM_015125
NM_001304815		c.C4466T
c.C7193T		p.A1489V
p.A2398V		16.688.319E-6Cukier2014 E
CIT     Cukier2014:7637chr12:
120220431-120220431		CTexonicUnknownnonsynonymous SNVNM_001206999
NM_007174		c.G1556A
c.G1556A		p.R519Q
p.R519Q		33.08.244E-6Cukier2014 E
CHTF18     Cukier2014:18074chr16:
845754-845754		CTexonicUnknownnonsynonymous SNVNM_022092c.C2245Tp.R749C14.570.0122Cukier2014 E
CHTOP     Cukier2014:37150chr1:
153615820-153615820		GAexonicUnknownnonsynonymous SNVNM_001206612
NM_015607		c.G524A
c.G521A		p.R175H
p.R174H		15.960.0145Cukier2014 E
CLDN3     Cukier2014:7435chr7:
73183979-73183979		GAexonicUnknownnonsynonymous SNVNM_001306c.C401Tp.P134L32.00.0045Cukier2014 E
CLIP1     Cukier2014:7590chr12:
122825398-122825398		CTexonicUnknownnonsynonymous SNVNM_198240
NM_002956
NM_001247997		c.G2215A
c.G2320A
c.G2353A		p.E739K
p.E774K
p.E785K		26.00.0102Cukier2014 E
CIZ1     Cukier2014:7606chr9:
130941377-130941377		TCexonicUnknownnonsynonymous SNVNM_001131018
NM_001257976
NM_001131015
NM_001131016
NM_001131017
NM_001257975
NM_012127		c.A1037G
c.A806G
c.A1109G
c.A1109G
c.A1094G
c.A1199G
c.A1109G		p.E346G
p.E269G
p.E370G
p.E370G
p.E365G
p.E400G
p.E370G		23.20.0029Cukier2014 E
CLCN2     Cukier2014:37994chr3:
184076909-184076909		CTexonicUnknownnonsynonymous SNVNM_001171087
NM_001171088
NM_001171089
NM_004366		c.G74A
c.G74A
c.G74A
c.G74A		p.R25Q
p.R25Q
p.R25Q
p.R25Q		29.21.0E-4Cukier2014 E
COL22A1     Cukier2014:7623chr8:
139815174-139815174		CGexonicUnknownnonsynonymous SNVNM_152888c.G1498Cp.D500H15.837.0E-4Cukier2014 E
COL4A4     Cukier2014:7531chr2:
227915847-227915847		CTexonicUnknownnonsynonymous SNVNM_000092c.G2996Ap.G999E13.890.0117Cukier2014 E
CLYBL     Cukier2014:17122chr13:
100425097-100425097		GTexonicUnknownnonsynonymous SNVNM_206808c.G82Tp.D28Y12.730.0217Cukier2014 E
CNTN5     Cukier2014:17342chr11:
100168410-100168410		TAexonicUnknownnonsynonymous SNVNM_175566
NM_001243270
NM_001243271
NM_014361		c.T2146A
c.T2368A
c.T2368A
c.T2368A		p.L716I
p.L790I
p.L790I
p.L790I		13.980.0097Cukier2014 E
COL6A3     Cukier2014:17478chr2:
238271991-238271991		GAexonicUnknownnonsynonymous SNVNM_057166
NM_057167
NM_004369		c.C4147T
c.C5350T
c.C5968T		p.R1383W
p.R1784W
p.R1990W		6.6140.0012Cukier2014 E
COL6A6     Cukier2014:37994chr3:
130282383-130282383		CAexonicUnknownnonsynonymous SNVNM_001102608c.C536Ap.T179K23.30.0131Cukier2014 E
COL5A3     Cukier2014:7590chr19:
10085062-10085062		CTexonicUnknownnonsynonymous SNVNM_015719c.G3365Ap.R1122H18.480.0428Cukier2014 E
COL6A3     Cukier2014:18074chr2:
238253016-238253016		GAexonicUnknownnonsynonymous SNVNM_057166
NM_057167
NM_004369		c.C5824T
c.C7027T
c.C7645T		p.R1942W
p.R2343W
p.R2549W		10.190.0027Cukier2014 E
CRISP2     Cukier2014:7637chr6:
49663567-49663567		AGexonicUnknownnonsynonymous SNVNM_001142407
NM_001142435
NM_001261822
NM_001142408
NM_001142417
NM_003296		c.T586C
c.T586C
c.T586C
c.T586C
c.T586C
c.T586C		p.C196R
p.C196R
p.C196R
p.C196R
p.C196R
p.C196R		17.240.018Cukier2014 E
CSMD1     Cukier2014:37117chr8:
2965294-2965294		GCexonicUnknownnonsynonymous SNVNM_033225c.C6781Gp.P2261A15.420.0042Cukier2014 E
COMP     Cukier2014:7637chr19:
18897440-18897440		TCexonicUnknownnonsynonymous SNVNM_000095c.A1156Gp.N386D18.690.0338Cukier2014 E
CPZ     Cukier2014:37232chr4:
8613762-8613762		GTexonicUnknownnonsynonymous SNVNM_003652
NM_001014447
NM_001014448		c.G1203T
c.G1236T
c.G825T		p.K401N
p.K412N
p.K275N		15.830.006Cukier2014 E
CUL7     Cukier2014:37425chr6:
43014022-43014022		GAexonicUnknownnonsynonymous SNVNM_001168370
NM_014780		c.C2864T
c.C2612T		p.A955V
p.A871V		20.70.0212Cukier2014 E
CFAP47     Cukier2014:37117chrX:
36091379-36091379		ACexonicUnknownnonsynonymous SNVNM_001304548c.A4589Cp.H1530P10.850.0098Cukier2014 E
CSMD1     Cukier2014:17122chr8:
3253832-3253832		CTexonicUnknownnonsynonymous SNVNM_033225c.G2477Ap.G826D16.61-Cukier2014 E
CTSZ     Cukier2014:17122chr20:
57572709-57572709		AGexonicUnknownnonsynonymous SNVNM_001336c.T587Cp.L196P16.880.005Cukier2014 E
CYP4X1     Cukier2014:7797chr1:
47498961-47498961		GAexonicUnknownnonsynonymous SNVNM_178033c.G413Ap.R138H13.850.0013Cukier2014 E
CYTL1     Cukier2014:7637chr4:
5016883-5016883		GAexonicUnknownnonsynonymous SNVNM_018659c.C406Tp.R136C14.850.0355Cukier2014 E
CYP2C18     Cukier2014:17302chr10:
96447920-96447920		CTexonicUnknownnonsynonymous SNVNM_000772
NM_001128925		c.C370T
c.C370T		p.R124W
p.R124W		15.570.0086Cukier2014 E
CYP4B1     Cukier2014:17545chr1:
47280830-47280830		AGexonicUnknownnonsynonymous SNVNM_000779
NM_001099772		c.A964G
c.A967G		p.S322G
p.S323G		28.20.0103Cukier2014 E
DCHS1     Cukier2014:18074chr11:
6661600-6661600		GTexonicUnknownnonsynonymous SNVNM_003737c.C1245Ap.S415R15.530.0065Cukier2014 E
DCLRE1A     Cukier2014:37425chr10:
115602192-115602192		TAexonicUnknownnonsynonymous SNVNM_014881
NM_001271816		c.A2575T
c.A2575T		p.I859F
p.I859F		24.10.0027Cukier2014 E
DAO     Cukier2014:7663chr12:
109293187-109293187		GAexonicUnknownnonsynonymous SNVNM_001917c.G848Ap.R283Q16.722.0E-4Cukier2014 E
DCBLD2     Cukier2014:7658chr3:
98600385-98600385		TCexonicUnknownnonsynonymous SNVNM_080927c.A432Gp.I144M15.10.0406Cukier2014 E
DLGAP2     Cukier2014:37117chr8:
1624708-1624708		GCexonicUnknownnonsynonymous SNVNM_001277161
NM_004745		c.G1930C
c.G1972C		p.A644P
p.A658P		11.65-Cukier2014 E
DMXL1     Cukier2014:17678chr5:
118505962-118505962		CTexonicUnknownnonsynonymous SNVNM_001290321
NM_001290322
NM_005509		c.C5476T
c.C4957T
c.C5476T		p.R1826C
p.R1653C
p.R1826C		17.172.0E-4Cukier2014 E
DEF6     Cukier2014:17351chr6:
35289153-35289153		ACexonicUnknownnonsynonymous SNVNM_022047c.A1862Cp.Q621P13.660.0045Cukier2014 E
DEFB128     Cukier2014:7637chr20:
168558-168558		AGexonicUnknownnonsynonymous SNVNM_001037732c.T251Cp.I84T7.8640.0092Cukier2014 E
DNAH10     Cukier2014:7936chr12:
124356105-124356105		GTexonicUnknownnonsynonymous SNVNM_207437c.G7387Tp.A2463S31.0-Cukier2014 E
DNAH10     Cukier2014:7936chr12:
124401027-124401027		CAexonicUnknownnonsynonymous SNVNM_207437c.C10392Ap.D3464E18.10.0116Cukier2014 E
DMXL1     Cukier2014:37674chr5:
118506652-118506652		CTexonicUnknownnonsynonymous SNVNM_001290321
NM_001290322
NM_005509		c.C6166T
c.C5647T
c.C6166T		p.R2056C
p.R1883C
p.R2056C		16.854.124E-5Cukier2014 E
DNAAF1     Cukier2014:17351chr16:
84211403-84211403		CGexonicUnknownnonsynonymous SNVNM_178452c.C2134Gp.P712A0.0110.002Cukier2014 E
DNAH9     Cukier2014:7590chr17:
11840819-11840819		GTexonicUnknownnonsynonymous SNVNM_004662
NM_001372		c.G1576T
c.G12640T		p.G526C
p.G4214C		16.990.0024Cukier2014 E
DNAJC30     Cukier2014:7506chr7:
73097713-73097713		GAexonicUnknownnonsynonymous SNVNM_032317c.C41Tp.P14L9.2420.0322Cukier2014 E
DNAH6     Cukier2014:7936chr2:
84928399-84928399		CAexonicUnknownnonsynonymous SNVNM_001370c.C7997Ap.S2666Y21.70.0017Cukier2014 E
DNAH8     Cukier2014:37425chr6:
38957948-38957948		CTexonicUnknownnonsynonymous SNVNM_001206927c.C13214Tp.T4405M23.34.0E-4Cukier2014 E
DTHD1     Cukier2014:37232chr4:
36340755-36340755		CAexonicUnknownnonsynonymous SNVNM_001136536
NM_001170700		c.C1492A
c.C1987A		p.P498T
p.P663T		20.10.0352Cukier2014 E
EDC4     Cukier2014:7531chr16:
67913976-67913976		GAexonicUnknownnonsynonymous SNVNM_014329c.G1954Ap.E652K21.00.0012Cukier2014 E
DOCK8     Cukier2014:7590chr9:
312134-312134		GAexonicUnknownnonsynonymous SNVNM_001190458
NM_001193536
NM_203447		c.G505A
c.G505A
c.G709A		p.E169K
p.E169K
p.E237K		17.970.0288Cukier2014 E
DSEL     Cukier2014:7503chr18:
65179657-65179657		TCexonicUnknownnonsynonymous SNVNM_032160c.A2219Gp.Y740C15.140.0036Cukier2014 E
EFCAB7     Cukier2014:37425chr1:
64011657-64011657		AGexonicUnknownnonsynonymous SNVNM_032437c.A875Gp.Y292C21.50.0072Cukier2014 E
EFS     Cukier2014:37425chr14:
23829490-23829490		CTexonicUnknownnonsynonymous SNVNM_001277174
NM_032459
NM_005864		c.G19A
c.G19A
c.G298A		p.V7M
p.V7M
p.V100M		15.070.0125Cukier2014 E
EFCAB5     Cukier2014:17678chr17:
28268857-28268857		GAsplicingUnknownsplicing12.70.007Cukier2014 E
EFCAB6     Cukier2014:37024chr22:
44004465-44004465		CTexonicUnknownnonsynonymous SNVNM_198856
NM_022785		c.G2122A
c.G2578A		p.D708N
p.D860N		17.30.0017Cukier2014 E
EHMT2     Cukier2014:7435chr6:
31864538-31864538		GAexonicUnknownnonsynonymous SNVNM_001289413
NM_006709
NM_025256		c.C344T
c.C173T
c.C173T		p.S115F
p.S58F
p.S58F		9.0110.0181Cukier2014 E
EMILIN1     Cukier2014:17342chr2:
27308159-27308159		GAexonicUnknownnonsynonymous SNVNM_007046c.G2707Ap.E903K3.6960.0198Cukier2014 E
EGFLAM     Cukier2014:17351chr5:
38418311-38418311		CAexonicUnknownnonsynonymous SNVNM_182798
NM_001205301
NM_152403		c.C936A
c.C1638A
c.C1638A		p.D312E
p.D546E
p.D546E		24.10.003Cukier2014 E
EHHADH     Cukier2014:37037chr3:
184910078-184910078		GAexonicUnknownnonsynonymous SNVNM_001166415
NM_001966		c.C1820T
c.C2108T		p.S607F
p.S703F		18.120.0097Cukier2014 E
ESPL1     Cukier2014:17342chr12:
53682043-53682043		CGexonicUnknownnonsynonymous SNVNM_012291c.C4464Gp.I1488M17.190.0085Cukier2014 E
EVI2A     Cukier2014:37150chr17:
29645473-29645473		CTexonicUnknownnonsynonymous SNVNM_014210
NM_001003927		c.G559A
c.G628A		p.G187S
p.G210S		18.280.0032Cukier2014 E
EPHA1     Cukier2014:17545chr7:
143095153-143095153		CTexonicUnknownnonsynonymous SNVNM_005232c.G1475Ap.R492Q2.8140.0121Cukier2014 E
EPPK1     Cukier2014:7745chr8:
144941198-144941198		TGexonicUnknownnonsynonymous SNVNM_031308c.A6224Cp.Q2075P14.610.012Cukier2014 E
FAM169A     Cukier2014:37117chr5:
74101028-74101028		CTexonicUnknownnonsynonymous SNVNM_015566c.G752Ap.R251Q29.7-Cukier2014 E
FAM173B     Cukier2014:7936chr5:
10236693-10236693		AGexonicUnknownnonsynonymous SNVNM_001258388
NM_001258389
NM_199133		c.T341C
c.T341C
c.T341C		p.V114A
p.V114A
p.V114A		10.550.0226Cukier2014 E
F13A1     Cukier2014:37994chr6:
6251120-6251120		TAexonicUnknownnonsynonymous SNVNM_000129c.A614Tp.Y205F16.860.0172Cukier2014 E
FAM166B     Cukier2014:7590chr9:
35563361-35563361		GAexonicUnknownnonsynonymous SNVNM_001099951
NM_001164310
NM_001287238
NM_001287239		c.C88T
c.C88T
c.C88T
c.C88T		p.R30W
p.R30W
p.R30W
p.R30W		19.570.0475Cukier2014 E
FANCD2     Cukier2014:37150chr3:
10115047-10115047		GAsplicingUnknownsplicing16.482.0E-4Cukier2014 E
FAT1     Cukier2014:37037chr4:
187518041-187518041		TCexonicUnknownnonsynonymous SNVNM_005245c.A12653Gp.D4218G14.120.0107Cukier2014 E
FAM184B     Cukier2014:17545chr4:
17690072-17690072		TCexonicUnknownnonsynonymous SNVNM_015688c.A1571Gp.Q524R6.0180.0377Cukier2014 E
FAM71A     Cukier2014:37534chr1:
212799139-212799139		AGexonicUnknownnonsynonymous SNVNM_153606c.A920Gp.Q307R12.170.0127Cukier2014 E
FAT4     Cukier2014:7713chr4:
126373570-126373570		CTexonicUnknownnonsynonymous SNVNM_001291285
NM_001291303
NM_024582		c.C11405T
c.C11405T
c.C11399T		p.S3802F
p.S3802F
p.S3800F		17.630.0373Cukier2014 E
FBF1     Cukier2014:17545chr17:
73915803-73915803		GAexonicUnknownnonsynonymous SNVNM_001080542c.C2039Tp.A680V16.280.0231Cukier2014 E
FAT1     Cukier2014:17545chr4:
187549364-187549364		GAexonicUnknownnonsynonymous SNVNM_005245c.C4754Tp.T1585M15.860.0066Cukier2014 E
FAT1     Cukier2014:17545chr4:
187557908-187557908		CTexonicUnknownnonsynonymous SNVNM_005245c.G3803Ap.R1268Q9.8110.0065Cukier2014 E
FBP2     Cukier2014:17342chr9:
97321404-97321404		AGexonicUnknownnonsynonymous SNVNM_003837c.T836Cp.L279P21.10.005Cukier2014 E
FBXL14     Cukier2014:17122chr12:
1702929-1702929		TGexonicUnknownnonsynonymous SNVNM_152441c.A304Cp.N102H18.110.0028Cukier2014 E
FBN3     Cukier2014:7590chr19:
8175770-8175770		TAexonicUnknownnonsynonymous SNVNM_032447c.A4292Tp.N1431I7.4590.0035Cukier2014 E
FBN3     Cukier2014:37674chr19:
8183871-8183871		GAexonicUnknownnonsynonymous SNVNM_032447c.C3247Tp.R1083W16.290.0635Cukier2014 E
FBXO36     Cukier2014:37425chr2:
230841011-230841011		CTexonicUnknownnonsynonymous SNVNM_174899c.C151Tp.P51S23.60.0048Cukier2014 E
FBXO40     Cukier2014:37425chr3:
121340955-121340955		GAexonicUnknownnonsynonymous SNVNM_016298c.G679Ap.A227T14.370.0139Cukier2014 E
FBXO30     Cukier2014:7658chr6:
146121343-146121343		CGexonicUnknownnonsynonymous SNVNM_032145c.G2137Cp.E713Q19.65-Cukier2014 E
FBXO30     Cukier2014:37994chr6:
146126163-146126163		GAexonicUnknownnonsynonymous SNVNM_032145c.C1379Tp.T460I19.60.0013Cukier2014 E
MROH5     Cukier2014:37037chr8:
142500315-142500315		GAexonicUnknownunknown-0.0144Cukier2014 E
FRK     Cukier2014:37674chr6:
116325108-116325108		GAexonicUnknownnonsynonymous SNVNM_002031c.C398Tp.S133L17.060.008Cukier2014 E
FGD6     Cukier2014:37994chr12:
95604078-95604078		GAexonicUnknownstopgainNM_018351c.C982Tp.Q328X27.5-Cukier2014 E
FLII     Cukier2014:7590chr17:
18148534-18148534		CTexonicUnknownnonsynonymous SNVNM_001256265
NM_001256264
NM_002018		c.G3563A
c.G3695A
c.G3728A		p.R1188H
p.R1232H
p.R1243H		24.20.0175Cukier2014 E
FSTL5     Cukier2014:17302chr4:
162697058-162697058		CTexonicUnknownnonsynonymous SNVNM_001128427
NM_001128428
NM_020116		c.G575A
c.G575A
c.G578A		p.G192E
p.G192E
p.G193E		22.50.0152Cukier2014 E
FYCO1     Cukier2014:17351chr3:
46003735-46003735		CTexonicUnknownnonsynonymous SNVNM_024513c.G3419Ap.R1140Q36.00.0104Cukier2014 E
FRY     Cukier2014:17678chr13:
32785102-32785102		GAexonicUnknownnonsynonymous SNVNM_023037c.G4522Ap.V1508I18.815.0E-4Cukier2014 E
FSIP2     Cukier2014:7606chr2:
186654867-186654867		GCexonicUnknownnonsynonymous SNVNM_173651c.G3271Cp.D1091H12.610.1802Cukier2014 E
GALM     Cukier2014:17342chr2:
38956836-38956836		CGexonicUnknownnonsynonymous SNVNM_138801c.C773Gp.A258G24.73.0E-4Cukier2014 E
GDF15     Cukier2014:7506chr19:
18499119-18499119		CGexonicUnknownnonsynonymous SNVNM_004864c.C301Gp.L101V22.34.0E-4Cukier2014 E
FYCO1     Cukier2014:17351chr3:
46008983-46008983		GAexonicUnknownnonsynonymous SNVNM_024513c.C1843Tp.R615W16.160.0105Cukier2014 E
GAB2     Cukier2014:37994chr11:
77961261-77961261		CTexonicUnknownnonsynonymous SNVNM_012296
NM_080491		c.G448A
c.G562A		p.A150T
p.A188T		13.66-Cukier2014 E
GHRHR     Cukier2014:7870chr7:
31018852-31018852		TCexonicUnknownnonsynonymous SNVNM_000823c.T1265Cp.M422T8.3550.0411Cukier2014 E
GJA8     Cukier2014:7663chr1:
147380740-147380740		AGexonicUnknownnonsynonymous SNVNM_005267c.A658Gp.N220D17.70.0026Cukier2014 E
GEMIN5     Cukier2014:17678chr5:
154307070-154307070		GCexonicUnknownnonsynonymous SNVNM_001252156
NM_015465		c.C952G
c.C955G		p.R318G
p.R319G		28.40.0198Cukier2014 E
GGT6     Cukier2014:18074chr17:
4463713-4463713		AGexonicUnknownnonsynonymous SNVNM_001122890
NM_001288702
NM_001288703
NM_001288704
NM_153338		c.T104C
c.T104C
c.T104C
c.T104C
c.T104C		p.L35P
p.L35P
p.L35P
p.L35P
p.L35P		15.530.0211Cukier2014 E
ADGRF3     Cukier2014:17342chr2:
26536727-26536727		CTexonicUnknownnonsynonymous SNVNM_153835
NM_001145169
NM_001145168		c.G580A
c.G970A
c.G1177A		p.V194I
p.V324I
p.V393I		12.630.0255Cukier2014 E
GPR142     Cukier2014:7713chr17:
72366761-72366761		GAexonicUnknownnonsynonymous SNVNM_181790c.G460Ap.V154M17.720.0013Cukier2014 E
GLIS3     Cukier2014:37425chr9:
4118634-4118634		GCexonicUnknownnonsynonymous SNVNM_152629
NM_001042413		c.C379G
c.C844G		p.P127A
p.P282A		12.590.002Cukier2014 E
GLUD2     Cukier2014:37150chrX:
120181950-120181950		CTexonicUnknownstopgainNM_012084c.C412Tp.Q138X21.44.0E-4Cukier2014 E
GRIN3B     Cukier2014:37024chr19:
1008645-1008645		CAexonicUnknownnonsynonymous SNVNM_138690c.C2495Ap.A832E13.350.0102Cukier2014 E
GRM2     Cukier2014:7658chr3:
51747288-51747288		GAexonicUnknownnonsynonymous SNVNM_000839c.G1250Ap.R417H22.10.0149Cukier2014 E
GPR84     Cukier2014:17342chr12:
54757199-54757199		AGexonicUnknownnonsynonymous SNVNM_020370c.T437Cp.V146A10.310.0011Cukier2014 E
GPRC6A     Cukier2014:7590chr6:
117113315-117113315		GAexonicUnknownnonsynonymous SNVNM_001286355
NM_001286354
NM_148963		c.C2558T
c.C2246T
c.C2771T		p.S853L
p.S749L
p.S924L		14.050.0165Cukier2014 E
DNAAF5     Cukier2014:17122chr7:
803506-803506		CTexonicUnknownnonsynonymous SNVNM_017802c.C1678Tp.R560C12.310.0049Cukier2014 E
MROH2A     Cukier2014:37037chr2:
234713681-234713681		GTexonicUnknownnonsynonymous SNVNM_001287395c.G1985Tp.G662V16.280.0255Cukier2014 E
GRM6     Cukier2014:37037chr5:
178413163-178413163		GCexonicUnknownnonsynonymous SNVNM_000843c.C2092Gp.L698V11.330.0049Cukier2014 E
GUCA1B     Cukier2014:7936chr6:
42153428-42153428		CAexonicUnknownnonsynonymous SNVNM_002098c.G465Tp.E155D11.820.0087Cukier2014 E
HIVEP1     Cukier2014:37024chr6:
12163802-12163802		GAexonicUnknownnonsynonymous SNVNM_002114c.G7265Ap.G2422E23.23.0E-4Cukier2014 E
HPS6     Cukier2014:7435chr10:
103825865-103825865		GAexonicUnknownnonsynonymous SNVNM_024747c.G634Ap.V212M12.632.0E-4Cukier2014 E
HHIPL2     Cukier2014:7713chr1:
222712108-222712108		GTexonicUnknownnonsynonymous SNVNM_024746c.C1459Ap.L487M17.110.004Cukier2014 E
HIF1A     Cukier2014:17545chr14:
62204808-62204808		CTexonicUnknownnonsynonymous SNVNM_001243084
NM_001530
NM_181054		c.C1325T
c.C1253T
c.C1253T		p.T442I
p.T418I
p.T418I		15.180.0038Cukier2014 E
IGSF10     Cukier2014:37994chr3:
151154509-151154509		CTexonicUnknownnonsynonymous SNVNM_001178145
NM_001178146
NM_178822		c.G1921A
c.G1777A
c.G7840A		p.D641N
p.D593N
p.D2614N		26.00.0081Cukier2014 E
IL17RB     Cukier2014:17545chr3:
53889368-53889368		GAexonicUnknownnonsynonymous SNVNM_018725c.G529Ap.G177R18.820.0045Cukier2014 E
HTR7     Cukier2014:17302chr10:
92509055-92509055		GAexonicUnknownnonsynonymous SNVNM_000872
NM_019859
NM_019860		c.C836T
c.C836T
c.C836T		p.P279L
p.P279L
p.P279L		16.210.002Cukier2014 E
IGDCC4     Cukier2014:7658chr15:
65677446-65677446		CAexonicUnknownnonsynonymous SNVNM_020962c.G3188Tp.W1063L17.890.0212Cukier2014 E
IQCB1     Cukier2014:7658chr3:
121500697-121500697		GAexonicUnknownnonsynonymous SNVNM_001023571
NM_001023570		c.C904T
c.C1303T		p.R302C
p.R435C		14.220.0156Cukier2014 E
IQGAP2     Cukier2014:7637chr5:
75960968-75960968		GCexonicUnknownnonsynonymous SNVNM_001285461
NM_001285462
NM_001285460
NM_006633		c.G1135C
c.G1135C
c.G2497C
c.G2647C		p.E379Q
p.E379Q
p.E833Q
p.E883Q		28.90.0034Cukier2014 E
IL4R     Cukier2014:7506chr16:
27374696-27374696		CTexonicUnknownnonsynonymous SNVNM_001257406
NM_001257997
NM_000418
NM_001257407		c.C2023T
c.C1543T
c.C2023T
c.C1978T		p.P675S
p.P515S
p.P675S
p.P660S		12.040.0109Cukier2014 E
PATJ     Cukier2014:17122chr1:
62582847-62582847		CGexonicUnknownnonsynonymous SNVNM_176877c.C4847Gp.A1616G18.620.013Cukier2014 E
ITGA9     Cukier2014:17342chr3:
37785454-37785454		GAexonicUnknownnonsynonymous SNVNM_002207c.G2362Ap.V788M14.540.0027Cukier2014 E
ITSN2     Cukier2014:7435chr2:
24435599-24435599		GAexonicUnknownnonsynonymous SNVNM_019595
NM_006277		c.C3928T
c.C4009T		p.R1310W
p.R1337W		16.520.0288Cukier2014 E
IRAK2     Cukier2014:37425chr3:
10219567-10219567		CAexonicUnknownnonsynonymous SNVNM_001570c.C140Ap.S47Y19.760.0125Cukier2014 E
ISM1     Cukier2014:37425chr20:
13251316-13251316		TCexonicUnknownnonsynonymous SNVNM_080826c.T304Cp.S102P14.280.0223Cukier2014 E
KCNB1     Cukier2014:7503chr20:
47989527-47989527		CTexonicUnknownnonsynonymous SNVNM_004975c.G2570Ap.S857N12.640.0115Cukier2014 E
KCNB2     Cukier2014:3836chr8:
73849256-73849256		CTexonicUnknownnonsynonymous SNVNM_004770c.C1666Tp.P556S1.4881.0E-4Cukier2014 E
JAK3     Cukier2014:37150chr19:
17945696-17945696		CTexonicUnknownnonsynonymous SNVNM_000215c.G2164Ap.V722I8.4730.0086Cukier2014 E
JARID2     Cukier2014:37994chr6:
15496930-15496930		CTexonicUnknownnonsynonymous SNVNM_001267040
NM_004973		c.C958T
c.C1474T		p.R320C
p.R492C		16.010.0087Cukier2014 E
KIAA1257       Cukier2014:37425chr3:
128711946-128711946		CAexonicUnknownnonsynonymous SNVNM_020741c.G202Tp.D68Y17.120.0023Cukier2014 E
KIAA1468     Cukier2014:7663chr18:
59854886-59854886		GAexonicUnknownnonsynonymous SNVNM_020854c.G148Ap.G50S24.30.0069Cukier2014 E
KCNB2     Cukier2014:17678chr8:
73850175-73850175		AGexonicUnknownnonsynonymous SNVNM_004770c.A2585Gp.N862S16.452.0E-4Cukier2014 E
KEL     Cukier2014:17122chr7:
142655008-142655008		GAexonicUnknownnonsynonymous SNVNM_000420c.C578Tp.T193M11.860.0274Cukier2014 E
KLHL1     Cukier2014:17342chr13:
70370894-70370894		TCexonicUnknownnonsynonymous SNVNM_001286725
NM_020866		c.A1432G
c.A1615G		p.M478V
p.M539V		19.49-Cukier2014 E
KNG1     Cukier2014:17545chr3:
186461524-186461524		CTexonicUnknownstopgainNM_001166451
NM_000893		c.C1126T
c.C1234T		p.R376X
p.R412X		38.00.0313Cukier2014 E
KIAA1614     Cukier2014:7713chr1:
180905263-180905263		CTexonicUnknownnonsynonymous SNVNM_020950c.C2218Tp.R740W10.90.0392Cukier2014 E
PPP1R18     Cukier2014:37425chr6:
30652729-30652729		GAexonicUnknownnonsynonymous SNVNM_133471
NM_001134870		c.C1067T
c.C1067T		p.P356L
p.P356L		2.1260.0053Cukier2014 E
LCN12     Cukier2014:37674chr9:
139849847-139849847		GCexonicUnknownnonsynonymous SNVNM_178536c.G575Cp.C192S13.180.0015Cukier2014 E
LCN2     Cukier2014:7606chr9:
130914200-130914200		CTexonicUnknownnonsynonymous SNVNM_005564c.C371Tp.T124M8.1720.0026Cukier2014 E
LAMA2     Cukier2014:17342chr6:
129513850-129513850		TAexonicUnknownnonsynonymous SNVNM_000426
NM_001079823		c.T1634A
c.T1634A		p.L545Q
p.L545Q		21.40.0028Cukier2014 E
LARS2     Cukier2014:17545chr3:
45518073-45518073		CAexonicUnknownnonsynonymous SNVNM_015340c.C972Ap.H324Q7.9480.0223Cukier2014 E
LIPI     Cukier2014:18074chr21:
15524921-15524921		CTexonicUnknownnonsynonymous SNVNM_001302999
NM_001302998
NM_001303000
NM_198996		c.G1001A
c.G1091A
c.G1073A
c.G1154A		p.G334E
p.G364E
p.G358E
p.G385E		23.80.0711Cukier2014 E
LIPT2     Cukier2014:17678chr11:
74203256-74203256		TAexonicUnknownnonsynonymous SNVNM_001144869c.A620Tp.E207V23.00.0111Cukier2014 E
LDLRAD3     Cukier2014:7797chr11:
36057670-36057670		GAexonicUnknownnonsynonymous SNVNM_174902c.G64Ap.G22R24.92.0E-4Cukier2014 E
LIG1     Cukier2014:37037chr19:
48624555-48624555		CTexonicUnknownnonsynonymous SNVNM_001289064
NM_001289063
NM_000234		c.G2053A
c.G2164A
c.G2257A		p.V685M
p.V722M
p.V753M		15.070.0072Cukier2014 E
LRRC8E     Cukier2014:7506chr19:
7964482-7964482		GAexonicUnknownnonsynonymous SNVNM_001268285
NM_025061
NM_001268284		c.G688A
c.G1075A
c.G1075A		p.V230I
p.V359I
p.V359I		19.530.0021Cukier2014 E
LSM14A     Cukier2014:7531chr19:
34706203-34706203		GAexonicUnknownnonsynonymous SNVNM_001114093
NM_015578		c.G713A
c.G713A		p.R238Q
p.R238Q		14.020.0204Cukier2014 E
LLGL1     Cukier2014:17678chr17:
18145552-18145552		CAexonicUnknownnonsynonymous SNVNM_004140c.C2955Ap.S985R12.772.0E-4Cukier2014 E
LRPAP1     Cukier2014:7637chr4:
3526715-3526715		CTexonicUnknownnonsynonymous SNVNM_002337c.G268Ap.E90K20.12.0E-4Cukier2014 E
MAP3K1     Cukier2014:7637chr5:
56155672-56155672		AGexonicUnknownnonsynonymous SNVNM_005921c.A764Gp.N255S13.570.0203Cukier2014 E
MAP3K10     Cukier2014:7506chr19:
40698441-40698441		CAexonicUnknownnonsynonymous SNVNM_002446c.C503Ap.P168Q22.50.0016Cukier2014 E
LTBP2     Cukier2014:37994chr14:
74976452-74976452		CTexonicUnknownnonsynonymous SNVNM_000428c.G3262Ap.G1088S18.250.0335Cukier2014 E
LYSMD3     Cukier2014:17342chr5:
89815108-89815108		GTexonicUnknownnonsynonymous SNVNM_198273c.C449Ap.S150Y13.460.012Cukier2014 E
MCM7     Cukier2014:7797chr7:
99695873-99695873		GAexonicUnknownnonsynonymous SNVNM_001278595
NM_182776
NM_005916		c.C233T
c.C233T
c.C761T		p.T78M
p.T78M
p.T254M		17.461.0E-4Cukier2014 E
MDC1     Cukier2014:37425chr6:
30679963-30679963		ACexonicUnknownnonsynonymous SNVNM_014641c.T1756Gp.S586A7.1930.0053Cukier2014 E
MAP3K4     Cukier2014:17342chr6:
161470544-161470544		TGexonicUnknownnonsynonymous SNVNM_001301072
NM_005922
NM_006724		c.T1240G
c.T1240G
c.T1240G		p.L414V
p.L414V
p.L414V		18.075.769E-5Cukier2014 E
MAP3K4     Cukier2014:17342chr6:
161508880-161508880		ACexonicUnknownnonsynonymous SNVNM_001301072
NM_005922
NM_006724
NM_001291958		c.A2717C
c.A2717C
c.A2717C
c.A1076C		p.H906P
p.H906P
p.H906P
p.H359P		13.590.0235Cukier2014 E
MDP1     Cukier2014:7531chr14:
24683304-24683304		CAexonicUnknownnonsynonymous SNVNM_001199821
NM_138476
NM_001199823		c.G317T
c.G457T
c.G508T		p.R106M
p.G153W
p.G170W		19.140.0078Cukier2014 E
MELK     Cukier2014:7590chr9:
36583642-36583642		AGexonicUnknownnonsynonymous SNVNM_001256685
NM_001256687
NM_001256688
NM_014791		c.A77G
c.A77G
c.A77G
c.A77G		p.K26R
p.K26R
p.K26R
p.K26R		27.40.005Cukier2014 E
MDC1     Cukier2014:37425chr6:
30680968-30680968		CTexonicUnknownnonsynonymous SNVNM_014641c.G751Ap.E251K11.690.0053Cukier2014 E
MDM1     Cukier2014:37232chr12:
68720534-68720534		AGexonicUnknownnonsynonymous SNVNM_001205028
NM_017440
NM_020128		c.T401C
c.T401C
c.T401C		p.V134A
p.V134A
p.V134A		6.0360.0174Cukier2014 E
MICA     Cukier2014:37425chr6:
31378965-31378965		GAexonicUnknownnonsynonymous SNVNM_000247
NM_001177519
NM_001289152
NM_001289153		c.G442A
c.G442A
c.G151A
c.G151A		p.E148K
p.E148K
p.E51K
p.E51K		4.2480.0097Cukier2014 E
KMT2B     Cukier2014:17342chr19:
36216691-36216691		CTexonicUnknownnonsynonymous SNVNM_014727c.C3857Tp.T1286I16.794.13E-5Cukier2014 E
MGA     Cukier2014:37232chr15:
42021512-42021512		TCexonicUnknownnonsynonymous SNVNM_001080541
NM_001164273		c.T3808C
c.T3808C		p.C1270R
p.C1270R		15.590.0344Cukier2014 E
MGST3     Cukier2014:37150chr1:
165619079-165619079		CTUTR5Unknown4.9730.0307Cukier2014 E
MOG     Cukier2014:7936chr6:
29627222-29627222		CAexonicUnknownnonsynonymous SNVNM_001008228
NM_001008229
NM_002433
NM_206809
NM_206810
NM_206811
NM_206812		c.C215A
c.C215A
c.C215A
c.C215A
c.C215A
c.C215A
c.C215A		p.P72H
p.P72H
p.P72H
p.P72H
p.P72H
p.P72H
p.P72H		18.530.022Cukier2014 E
MRGPRX4     Cukier2014:18074chr11:
18195609-18195609		CTexonicUnknownnonsynonymous SNVNM_054032c.C806Tp.P269L15.20.0064Cukier2014 E
KMT2E     Cukier2014:37037chr7:
104747899-104747899		GTexonicUnknownnonsynonymous SNVNM_018682
NM_182931		c.G2995T
c.G2995T		p.G999C
p.G999C		24.20.0377Cukier2014 E
MNS1     Cukier2014:37425chr15:
56723692-56723692		CTexonicUnknownnonsynonymous SNVNM_018365c.G1274Ap.R425H13.110.0015Cukier2014 E
MUC17     Cukier2014:37024chr7:
100692149-100692149		CTexonicUnknownstopgainNM_001040105c.C12559Tp.Q4187X52.00.0012Cukier2014 E
MYH8     Cukier2014:7590chr17:
10298599-10298599		CTexonicUnknownnonsynonymous SNVNM_002472c.G4813Ap.D1605N31.00.0019Cukier2014 E
MRPL3     Cukier2014:7713chr3:
131188574-131188574		AGexonicUnknownnonsynonymous SNVNM_007208c.T782Cp.M261T8.5030.0152