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Results for "Ji2016"

Variant Events: 2056

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
CACNA2D1     13769.p1chr7:
81662204-81662204		CGexonicDe novononsynonymous SNVNM_000722c.G1052Cp.R351T26.8-Ji2016 E
RUNDC3B     14667.p1chr7:
87339897-87339897		GAexonicDe novostopgainNM_001134405
NM_001134406
NM_138290		c.G384A
c.G384A
c.G435A		p.W128X
p.W128X
p.W145X		41.0-Ji2016 E
ZNF804B     14394.p1chr7:
88389394-88389394		CTexonicDe novononsynonymous SNVNM_181646c.C104Tp.S35F19.94-Ji2016 E
AKAP9     11497.p1chr7:
91671478-91671478		GAexonicDe novononsynonymous SNVNM_005751
NM_147185		c.G5036A
c.G5036A		p.R1679H
p.R1679H		14.492.477E-5Ji2016 E
AKAP9     14474.p1chr7:
91726153-91726153		CTexonicDe novostopgainNM_005751
NM_147185		c.C9880T
c.C9856T		p.R3294X
p.R3286X		52.01.648E-5Ji2016 E
PPP1R9A     13037.p1chr7:
94539985-94539985		CTexonicDe novononsynonymous SNVNM_001166161
NM_001166162
NM_001166163
NM_001166160
NM_017650		c.C560T
c.C560T
c.C560T
c.C560T
c.C560T		p.S187F
p.S187F
p.S187F
p.S187F
p.S187F		21.0-Ji2016 E
TRRAP     11828.p1chr7:
98506430-98506430		GAexonicDe novononsynonymous SNVNM_001244580
NM_003496		c.G1195A
c.G1195A		p.V399I
p.V399I		23.43.37E-5Ji2016 E
TRRAP     12320.p1chr7:
98550922-98550922		CTexonicDe novononsynonymous SNVNM_003496
NM_001244580		c.C5521T
c.C5575T		p.R1841C
p.R1859C		23.2-Ji2016 E
POC1B     14444.p1chr12:
89918931-89918931		GAexonicDe novononsynonymous SNVNM_001199782c.C326Tp.P109L16.54-Ji2016 E
TRRAP     14463.p1chr7:
98609859-98609859		CTexonicDe novononsynonymous SNVNM_003496
NM_001244580		c.C11374T
c.C11461T		p.R3792C
p.R3821C		33.0-Ji2016 E
DHCR24     12198.p1chr1:
55337173-55337173		GCexonicDe novononsynonymous SNVNM_014762c.C726Gp.F242L12.88-Ji2016 E
TAF6     13560.p1chr7:
99711308-99711308		TCexonicDe novononsynonymous SNVNM_001190415
NM_005641
NM_139315		c.A439G
c.A328G
c.A328G		p.K147E
p.K110E
p.K110E		15.058.241E-6Ji2016 E
TAF6     13732.p1chr7:
99711522-99711522		AGexonicDe novononsynonymous SNVNM_001190415
NM_005641
NM_139315		c.T323C
c.T212C
c.T212C		p.I108T
p.I71T
p.I71T		20.53.295E-5Ji2016 E
STAG3     14405.p1chr7:
99802722-99802722		TCexonicDe novononsynonymous SNVNM_001282718
NM_001282716
NM_001282717
NM_012447		c.T2872C
c.T3046C
c.T3046C
c.T3046C		p.S958P
p.S1016P
p.S1016P
p.S1016P		19.971.648E-5Ji2016 E
LRCH4     11502.p1chr7:
100183600-100183600		CTexonicDe novononsynonymous SNVNM_001289934
NM_002319		c.G124A
c.G124A		p.V42M
p.V42M		22.5-Ji2016 E
GIGYF1     14530.p1chr7:
100282217-100282217		CCCATCTexonicDe novoframeshift insertionNM_022574c.1484_1485insAGATGp.M495fs--Ji2016 E
GIGYF1     11232.p1chr7:
100283002-100283019		TCCCCATCCCCGTTTGTCTexonicDe novoframeshift deletionNM_022574c.1140_1156delp.G380fs--Ji2016 E
ACHE     14085.p1chr7:
100488870-100488870		GAexonicDe novononsynonymous SNVNM_000665
NM_001282449
NM_001302621
NM_001302622
NM_015831		c.C1643T
c.C1379T
c.C1643T
c.C1643T
c.C1643T		p.P548L
p.P460L
p.P548L
p.P548L
p.P548L		21.0-Ji2016 E
ACHE     14533.p1chr7:
100491403-100491403		CTexonicDe novononsynonymous SNVNM_000665
NM_001282449
NM_001302621
NM_001302622
NM_015831		c.G451A
c.G451A
c.G451A
c.G451A
c.G451A		p.G151R
p.G151R
p.G151R
p.G151R
p.G151R		27.7-Ji2016 E
SLC26A5     11336.p1chr7:
103014942-103014942		GCexonicDe novononsynonymous SNVNM_001167962
NM_198999		c.C2043G
c.C2139G		p.S681R
p.S713R		11.38-Ji2016 E
LHFPL3     13426.p1chr7:
104377229-104377229		TAexonicDe novononsynonymous SNVNM_199000c.T553Ap.S185T15.78-Ji2016 E
PUS7     13641.p1chr7:
105108895-105108895		GAexonicDe novononsynonymous SNVNM_019042c.C1414Tp.R472C21.2-Ji2016 E
LAMB1     13991.p1chr7:
107566657-107566657		CTexonicDe novononsynonymous SNVNM_002291c.G5035Ap.V1679M14.78-Ji2016 E
LAMB1     12657.p1chr7:
107642100-107642100		GTexonicDe novononsynonymous SNVNM_002291c.C116Ap.T39K34.0-Ji2016 E
THAP5     13647.p1chr7:
108204755-108204757		TAGTexonicDe novoframeshift deletionNM_001287601
NM_001130475
NM_001287598
NM_001287599
NM_182529		c.580_581del
c.1066_1067del
c.580_581del
c.580_581del
c.940_941del		p.L194fs
p.L356fs
p.L194fs
p.L194fs
p.L314fs		-4.124E-5Ji2016 E
DNAJB9     12667.p1chr7:
108213622-108213622		TGexonicDe novononsynonymous SNVNM_012328c.T497Gp.F166C18.46-Ji2016 E
DOCK4     11099.p1chr7:
111398732-111398732		CTexonicDe novononsynonymous SNVNM_014705c.G4250Ap.R1417H17.14.186E-5Ji2016 E
SCN2A     14525.p1chr2:
166152367-166152367		GAexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G34A
c.G34A
c.G34A		p.D12N
p.D12N
p.D12N		13.34-Ji2016 E
AASS     12793.p1chr7:
121766464-121766464		CAexonicDe novononsynonymous SNVNM_005763c.G437Tp.R146L33.0-Ji2016 E
TNPO3     11169.p1chr7:
128622321-128622321		GAexonicDe novononsynonymous SNVNM_001191028
NM_012470		c.C1648T
c.C1840T		p.R550C
p.R614C		20.38.248E-6Ji2016 E
STRIP2     14652.p1chr7:
129094327-129094327		GAexonicDe novononsynonymous SNVNM_001134336
NM_020704		c.G665A
c.G665A		p.C222Y
p.C222Y		14.67-Ji2016 E
KLHDC10     11838.p1chr7:
129767258-129767258		CTexonicDe novostopgainNM_014997c.C946Tp.R316X37.0-Ji2016 E
AKR1B15     11061.p1chr7:
134253051-134253051		CTexonicDe novononsynonymous SNVNM_001080538c.C292Tp.R98W12.911.0E-4Ji2016 E
CNOT4     13415.p1chr7:
135122938-135122938		CTexonicDe novononsynonymous SNVNM_001008225
NM_001190847
NM_001190848
NM_001190849
NM_001190850
NM_013316		c.G142A
c.G142A
c.G142A
c.G142A
c.G142A
c.G142A		p.D48N
p.D48N
p.D48N
p.D48N
p.D48N
p.D48N		21.4-Ji2016 E
AKR1D1     12901.p1chr7:
137776536-137776536		CTexonicDe novononsynonymous SNVNM_001190906
NM_001190907
NM_005989		c.C284T
c.C284T
c.C284T		p.P95L
p.P95L
p.P95L		17.86-Ji2016 E
AGK     13843.p1chr7:
141321569-141321569		GAexonicDe novononsynonymous SNVNM_018238c.G556Ap.E186K20.4-Ji2016 E
TAS2R3     13922.p1chr7:
141464367-141464367		GAexonicDe novononsynonymous SNVNM_016943c.G409Ap.A137T16.06-Ji2016 E
TRPV5     12839.p1chr7:
142612052-142612052		TGexonicDe novononsynonymous SNVNM_019841c.A1451Cp.K484T26.0-Ji2016 E
OR6V1     13981.p1chr7:
142750270-142750270		TGexonicDe novononsynonymous SNVNM_001001667c.T833Gp.V278G15.67-Ji2016 E
ZYX     13686.p1chr7:
143079776-143079776		CGexonicDe novononsynonymous SNVNM_001010972
NM_003461		c.C499G
c.C499G		p.R167G
p.R167G		13.79-Ji2016 E
GALNTL5     13556.p1chr7:
151684364-151684364		CTexonicDe novononsynonymous SNVNM_145292c.C656Tp.S219L17.61-Ji2016 E
SCN2A     14280.p1chr2:
166201311-166201311		CTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C2809T
c.C2809T
c.C2809T		p.R937C
p.R937C
p.R937C		29.0-Ji2016 E
SCN2A     11892.p1chr2:
166201379-166201379		CAexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.C2877A
c.C2877A
c.C2877A		p.C959X
p.C959X
p.C959X		42.0-Ji2016 E
GALNTL6     12641.p1chr4:
173873251-173873251		CGexonicDe novononsynonymous SNVNM_001034845c.C1213Gp.P405A25.14.969E-5Ji2016 E
TPK1     13063.p1chr7:
144150703-144150703		CTexonicDe novononsynonymous SNVNM_001042482
NM_022445		c.G520A
c.G667A		p.G174R
p.G223R		29.75.769E-5Ji2016 E
PDIA4     14424.p1chr7:
148702452-148702452		GAexonicDe novononsynonymous SNVNM_004911c.C1303Tp.R435W19.11-Ji2016 E
SCN2A     11114.p1chr2:
166210819-166210819		GTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.G3037T
c.G3037T
c.G3037T		p.G1013X
p.G1013X
p.G1013X		40.0-Ji2016 E
ZNF786     13279.p1chr7:
148777718-148777718		AGexonicDe novononsynonymous SNVNM_152411c.T110Cp.V37A13.88-Ji2016 E
KRBA1     11773.p1chr7:
149420891-149420891		CGexonicDe novounknown13.1-Ji2016 E
AMIGO2     14017.p1chr12:
47472267-47472267		ACexonicDe novononsynonymous SNVNM_181847
NM_001143668		c.T519G
c.T519G		p.S173R
p.S173R		16.82-Ji2016 E
SSPO     14420.p1chr7:
149522912-149522912		CGexonicDe novononsynonymous SNVNM_198455c.C14131Gp.L4711V--Ji2016 E
GIMAP8     12740.p1chr7:
150174231-150174231		CTexonicDe novononsynonymous SNVNM_175571c.C1361Tp.T454I12.37-Ji2016 E
NOS3     12362.p1chr7:
150696412-150696412		CTexonicDe novononsynonymous SNVNM_001160109
NM_001160110
NM_001160111
NM_000603		c.C1091T
c.C1091T
c.C1091T
c.C1091T		p.T364M
p.T364M
p.T364M
p.T364M		12.78.696E-6Ji2016 E
SCN2A     13544.p1chr2:
166231378-166231378		TCexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.T4156C
c.T4156C
c.T4156C		p.C1386R
p.C1386R
p.C1386R		15.44-Ji2016 E
SCN2A     13642.p1chr2:
166234111-166234111		CTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C4259T
c.C4259T
c.C4259T		p.T1420M
p.T1420M
p.T1420M		28.0-Ji2016 E
OCIAD1     13829.p1chr4:
48852062-48852062		TGexonicDe novononsynonymous SNVNM_001079839
NM_001079840
NM_001079841
NM_001079842
NM_001168254
NM_017830		c.T340G
c.T340G
c.T340G
c.T340G
c.T355G
c.T340G		p.L114V
p.L114V
p.L114V
p.L114V
p.L119V
p.L114V		17.65-Ji2016 E
NUB1     13119.p1chr7:
151072959-151072959		GCexonicDe novononsynonymous SNVNM_001243351
NM_016118		c.G1493C
c.G1451C		p.W498S
p.W484S		10.66-Ji2016 E
KMT2C     11148.p1chr7:
151842339-151842339		GTexonicDe novostopgainNM_170606c.C14073Ap.Y4691X55.01.65E-5Ji2016 E
KMT2C     12742.p1chr7:
151845714-151845714		GAexonicDe novononsynonymous SNVNM_170606c.C13298Tp.A4433V20.1-Ji2016 E
KMT2C     11241.p1chr7:
151927315-151927315		GAexonicDe novononsynonymous SNVNM_170606c.C2861Tp.T954I15.7-Ji2016 E
MPEG1     13617.p1chr11:
58979891-58979891		CGexonicDe novononsynonymous SNVNM_001039396c.G448Cp.V150L18.07-Ji2016 E
DPP6     14523.p1chr7:
154561183-154561183		GAexonicDe novononsynonymous SNVNM_001290252
NM_001039350
NM_001936
NM_130797		c.G619A
c.G748A
c.G754A
c.G940A		p.A207T
p.A250T
p.A252T
p.A314T		22.23.314E-5Ji2016 E
UBE3C     11006.p1chr7:
157041114-157041114		CTexonicDe novononsynonymous SNVNM_014671c.C2534Tp.S845F21.28.237E-6Ji2016 E
DNAJB6     14217.p1chr7:
157177678-157177678		AGexonicDe novononsynonymous SNVNM_005494
NM_058246		c.A596G
c.A596G		p.N199S
p.N199S		14.93-Ji2016 E
DLGAP2     11520.p1chr8:
1626547-1626547		GCexonicDe novononsynonymous SNVNM_001277161
NM_004745		c.G2174C
c.G2216C		p.R725T
p.R739T		19.73-Ji2016 E
KNG1     13829.p1chr3:
186460067-186460067		AGexonicDe novononsynonymous SNVNM_001102416c.A1882Gp.T628A11.34-Ji2016 E
CSMD1     14695.p1chr8:
3046533-3046533		ATexonicDe novononsynonymous SNVNM_033225c.T5399Ap.V1800E16.27-Ji2016 E
CSMD1     14165.p1chr8:
3165969-3165969		GAexonicDe novononsynonymous SNVNM_033225c.C3688Tp.R1230C15.04-Ji2016 E
ANGPT2     14467.p1chr8:
6360752-6360752		TCexonicDe novononsynonymous SNVNM_001118888
NM_001118887
NM_001147		c.A1205G
c.A1358G
c.A1361G		p.N402S
p.N453S
p.N454S		29.5-Ji2016 E
TNKS     11569.p1chr8:
9567684-9567684		GCexonicDe novononsynonymous SNVNM_003747c.G1703Cp.R568T18.48-Ji2016 E
RP1L1     11475.p1chr8:
10468066-10468067		AGAexonicDe novoframeshift deletionNM_178857c.3541delCp.L1181fs--Ji2016 E
XKR6     11415.p1chr8:
10755512-10755512		GAexonicDe novostopgainNM_173683c.C1876Tp.R626X24.3-Ji2016 E
THEMIS     12153.p1chr6:
128151058-128151058		TCexonicDe novononsynonymous SNVNM_001010923
NM_001164685
NM_001164687		c.A272G
c.A272G
c.A167G		p.D91G
p.D91G
p.D56G		19.61-Ji2016 E
MTMR9     12534.p1chr8:
11172535-11172535		CAexonicDe novononsynonymous SNVNM_015458c.C1075Ap.R359S16.461.648E-5Ji2016 E
BLK     11845.p1chr8:
11415531-11415531		TCexonicDe novononsynonymous SNVNM_001715c.T1013Cp.I338T17.594.944E-5Ji2016 E
GATA4     14336.p1chr8:
11607635-11607635		GAexonicDe novononsynonymous SNVNM_001308093
NM_001308094
NM_002052		c.G802A
c.G181A
c.G799A		p.V268M
p.V61M
p.V267M		21.13.0E-4Ji2016 E
DLC1     11937.p1chr8:
13357486-13357486		TCexonicDe novononsynonymous SNVNM_024767
NM_182643		c.A95G
c.A95G		p.H32R
p.H32R		15.52-Ji2016 E
MTUS1     13624.p1chr8:
17504519-17504519		GAexonicDe novononsynonymous SNVNM_020749
NM_001001931
NM_001166393
NM_001001925
NM_001001924		c.C1069T
c.C1312T
c.C1006T
c.C3409T
c.C3571T		p.R357W
p.R438W
p.R336W
p.R1137W
p.R1191W		27.18.29E-6Ji2016 E
MTUS1     11521.p1chr8:
17612610-17612610		GCexonicDe novostopgainNM_001001924
NM_001001925		c.C707G
c.C707G		p.S236X
p.S236X		37.0-Ji2016 E
PCM1     11111.p1chr8:
17823633-17823633		AGexonicDe novononsynonymous SNVNM_001315507
NM_001315508
NM_006197		c.A2981G
c.A2984G
c.A2981G		p.E994G
p.E995G
p.E994G		32.0-Ji2016 E
PSD3     11842.p1chr8:
18730164-18730165		TCTexonicDe novoframeshift deletionNM_015310c.209delGp.G70fs--Ji2016 E
INTS10     11941.p1chr8:
19701609-19701609		GAexonicDe novononsynonymous SNVNM_018142c.G1742Ap.R581K15.7-Ji2016 E
HCAR1     12483.p1chr12:
123214180-123214180		CTexonicDe novononsynonymous SNVNM_032554c.G707Ap.S236N19.74-Ji2016 E
BMP1     11989.p1chr8:
22067161-22067161		GAexonicDe novononsynonymous SNVNM_006129c.G2779Ap.G927S32.08.254E-6Ji2016 E
CCAR2     13300.p1chr8:
22463609-22463609		AGexonicDe novononsynonymous SNVNM_021174c.A70Gp.T24A14.844.943E-5Ji2016 E
SCAND1     11740.p1chr20:
34542214-34542214		GCexonicDe novononsynonymous SNVNM_033630c.C182Gp.A61G--Ji2016 E
DOCK5     14613.p1chr8:
25257429-25257429		TTTexonicDe novoframeshift insertionNM_024940c.4707dupTp.A1569fs--Ji2016 E
DPYSL2     11566.p1chr8:
26510772-26510772		CTexonicDe novononsynonymous SNVNM_001197293
NM_001244604
NM_001386		c.C1801T
c.C1378T
c.C1486T		p.R601C
p.R460C
p.R496C		23.38.261E-6Ji2016 E
KIF13B     11658.p1chr8:
29005051-29005051		GAexonicDe novononsynonymous SNVNM_015254c.C1882Tp.R628C19.91-Ji2016 E
IDO2     13204.p1chr8:
39872850-39872850		GAexonicDe novononsynonymous SNVNM_194294c.G992Ap.R331K10.72-Ji2016 E
KAT6A     12108.p1chr8:
41906209-41906213		TTTTGTexonicDe novoframeshift deletionNM_001305878
NM_006766		c.283_286del
c.283_286del		p.Q95fs
p.Q95fs		--Ji2016 E
NCKAP5L     13290.p1chr12:
50188719-50188719		GAexonicDe novononsynonymous SNVNM_001037806c.C2924Tp.A975V21.4-Ji2016 E
IKBKB     14634.p1chr8:
42179637-42179637		GAexonicDe novononsynonymous SNVNM_001190720
NM_001242778
NM_001556		c.G1798A
c.G1627A
c.G1804A		p.E600K
p.E543K
p.E602K		36.0-Ji2016 E
PRKDC     12266.p1chr8:
48827944-48827944		CAexonicDe novounknown17.63-Ji2016 E
PRKDC     11839.p1chr8:
48849076-48849076		GAexonicDe novounknown20.24.15E-5Ji2016 E
PRKDC     13451.p1chr8:
48852146-48852146		AGexonicDe novounknown21.0-Ji2016 E
PXDNL     13867.p1chr8:
52232506-52232506		CTexonicDe novononsynonymous SNVNM_144651c.G4337Ap.C1446Y13.15-Ji2016 E
RAB2A     11077.p1chr8:
61484622-61484622		CTexonicDe novostopgainNM_001242644
NM_002865		c.C64T
c.C136T		p.R22X
p.R46X		28.2-Ji2016 E
CHD7     13733.p1chr8:
61735090-61735090		GAexonicDe novononsynonymous SNVNM_017780c.G2986Ap.G996S33.0-Ji2016 E
TRIM55     12587.p1chr8:
67040600-67040600		GAexonicDe novononsynonymous SNVNM_033058
NM_184085
NM_184086
NM_184087		c.G230A
c.G230A
c.G230A
c.G230A		p.R77H
p.R77H
p.R77H
p.R77H		29.92.0E-4Ji2016 E
EYA1     13881.p1chr8:
72246332-72246332		CGexonicDe novononsynonymous SNVNM_172060
NM_172058
NM_172059
NM_000503
NM_001288574		c.G103C
c.G202C
c.G202C
c.G202C
c.G202C		p.A35P
p.A68P
p.A68P
p.A68P
p.A68P		25.1-Ji2016 E
HEY1     11250.p1chr8:
80677553-80677553		GAexonicDe novononsynonymous SNVNM_001282851
NM_001040708
NM_012258		c.C515T
c.C797T
c.C785T		p.S172L
p.S266L
p.S262L		17.27-Ji2016 E
FABP4     13763.p1chr8:
82392668-82392668		TCexonicDe novononsynonymous SNVNM_001442c.A239Gp.K80R21.1-Ji2016 E
CA3     11495.p1chr8:
86356323-86356323		GAexonicDe novononsynonymous SNVNM_005181c.G412Ap.D138N27.33.309E-5Ji2016 E
OFD1     13134.p1chrX:
13774696-13774696		GTsplicingDe novosplicing16.35-Ji2016 E
DCAF4L2     14563.p1chr8:
88885654-88885654		GCexonicDe novononsynonymous SNVNM_152418c.C546Gp.I182M12.45-Ji2016 E
RGS22     13593.p1chr8:
100990260-100990260		CAexonicDe novononsynonymous SNVNM_001286693
NM_001286692
NM_015668		c.G2861T
c.G3368T
c.G3404T		p.C954F
p.C1123F
p.C1135F		15.73-Ji2016 E
UBR5     14012.p1chr8:
103287806-103287806		TTTexonicDe novoframeshift insertionNM_001282873
NM_015902		c.6671dupA
c.6671dupA		p.K2224fs
p.K2224fs		--Ji2016 E
RIMS2     12086.p1chr8:
104778570-104778570		GAexonicDe novononsynonymous SNVNM_001100117c.G503Ap.R168Q14.18.285E-6Ji2016 E
ZNF462     13842.p1chr9:
109691619-109691619		CTexonicDe novononsynonymous SNVNM_021224c.C5426Tp.A1809V13.271.657E-5Ji2016 E
ZFPM2     14072.p1chr8:
106815698-106815698		ACexonicDe novononsynonymous SNVNM_012082c.A3388Cp.N1130H16.07-Ji2016 E
NUDCD1     13306.p1chr8:
110255473-110255473		GAexonicDe novononsynonymous SNVNM_001128211
NM_032869		c.C1430T
c.C1517T		p.S477L
p.S506L		34.02.475E-5Ji2016 E
EBAG9     11824.p1chr8:
110576670-110576670		ATexonicDe novononsynonymous SNVNM_001278938
NM_004215
NM_198120		c.A524T
c.A524T
c.A524T		p.Q175L
p.Q175L
p.Q175L		21.0-Ji2016 E
IPO4     12198.p1chr14:
24650802-24650802		CGexonicDe novononsynonymous SNVNM_024658c.G2962Cp.A988P16.522.0E-4Ji2016 E
DEPTOR     14459.p1chr8:
120886198-120886198		GCexonicDe novononsynonymous SNVNM_001283012
NM_022783		c.G112C
c.G112C		p.E38Q
p.E38Q		16.39-Ji2016 E
TBC1D31     13975.p1chr8:
124140567-124140567		GCexonicDe novononsynonymous SNVNM_001145088
NM_145647		c.G1931C
c.G1931C		p.R644T
p.R644T		11.91-Ji2016 E
TRAPPC9     14196.p1chr8:
141468396-141468396		GAexonicDe novononsynonymous SNVNM_031466c.C268Tp.R90C13.71-Ji2016 E
ADGRB1     13634.p1chr8:
143605599-143605599		CGexonicDe novostopgainNM_001702c.C3246Gp.Y1082X42.0-Ji2016 E
GLI4     13529.p1chr8:
144358823-144358823		AGexonicDe novononsynonymous SNVNM_138465c.A980Gp.D327G15.59.145E-6Ji2016 E
TOP1MT     14100.p1chr8:
144400250-144400250		TCexonicDe novononsynonymous SNVNM_001258447
NM_052963
NM_001258446		c.A859G
c.A1153G
c.A859G		p.K287E
p.K385E
p.K287E		14.038.252E-6Ji2016 E
ZC3H3     12922.p1chr8:
144550618-144550618		CTexonicDe novononsynonymous SNVNM_015117c.G2039Ap.G680D23.6-Ji2016 E
NAPRT     11356.p1chr8:
144659231-144659231		CTsplicingDe novosplicing15.08-Ji2016 E
OPLAH     11518.p1chr8:
145114848-145114848		CTexonicDe novononsynonymous SNVNM_017570c.G88Ap.V30M12.878.484E-6Ji2016 E
DGAT1     12901.p1chr8:
145545015-145545015		CTexonicDe novononsynonymous SNVNM_012079c.G257Ap.R86H31.0-Ji2016 E
ZNF486     13769.p1chr19:
20296810-20296813		AAGCAexonicDe novononframeshift deletionNM_052852c.173_175delp.58_59del--Ji2016 E
MFSD3     11776.p1chr8:
145735147-145735147		AAAGCTGGGGGCCGCGCTexonicDe novoframeshift insertionNM_138431c.431_432insAGCTGGGGGCCGCGCTp.K144fs--Ji2016 E
KANK1     11108.p1chr9:
712508-712508		GAexonicDe novononsynonymous SNVNM_153186
NM_015158
NM_001256877
NM_001256876		c.G1268A
c.G1742A
c.G1742A
c.G1742A		p.C423Y
p.C581Y
p.C581Y
p.C581Y		13.378.241E-6Ji2016 E
RIC1     12661.p1chr9:
5763642-5763642		ACexonicDe novononsynonymous SNVNM_001206557
NM_001135920
NM_020829		c.A2504C
c.A2615C
c.A2615C		p.E835A
p.E872A
p.E872A		18.955.767E-5Ji2016 E
RIC1     13638.p1chr9:
5769178-5769178		AGexonicDe novononsynonymous SNVNM_001206557
NM_001135920
NM_020829		c.A3235G
c.A3346G
c.A3346G		p.K1079E
p.K1116E
p.K1116E		11.678.25E-6Ji2016 E
MLANA     13289.p1chr9:
5892550-5892550		GTexonicDe novostopgainNM_005511c.G76Tp.E26X38.0-Ji2016 E
IL33     14228.p1chr9:
6251242-6251242		CAexonicDe novononsynonymous SNVNM_001199640
NM_001314044
NM_001314045
NM_001314046
NM_001314047
NM_033439		c.C320A
c.C320A
c.C320A
c.C320A
c.C320A
c.C320A		p.A107E
p.A107E
p.A107E
p.A107E
p.A107E
p.A107E		12.35-Ji2016 E
NFIB     14385.p1chr9:
14150143-14150143		CTsplicingDe novosplicing20.8-Ji2016 E
SNAPC3     12591.p1chr9:
15459725-15459725		CTexonicDe novononsynonymous SNVNM_001039697c.C1097Tp.T366M28.31.65E-5Ji2016 E
CCDC171     14575.p1chr9:
15784693-15784693		GAsplicingDe novosplicing19.64-Ji2016 E
ADAMTSL1     13872.p1chr9:
18721602-18721602		GAexonicDe novononsynonymous SNVNM_001040272c.G1945Ap.V649M19.215.77E-5Ji2016 E
PEG10     13604.p1chr7:
94293229-94293229		GAexonicDe novononsynonymous SNVNM_001040152
NM_001172438
NM_001184962		c.G361A
c.G589A
c.G463A		p.V121M
p.V197M
p.V155M		15.64-Ji2016 E
IFNA10     13771.p1chr9:
21207037-21207037		ATexonicDe novostopgainNM_002171c.T60Ap.C20X17.280.2213Ji2016 E
ELAVL2     14248.p1chr9:
23692707-23692714		CACGGATGCexonicDe novoframeshift deletionNM_001171195
NM_001171197
NM_004432		c.882_888del
c.882_888del
c.921_927del		p.V294fs
p.V294fs
p.V307fs		--Ji2016 E
TUSC1     14620.p1chr9:
25677688-25677688		CTexonicDe novostopgainNM_001004125c.G632Ap.W211X38.0-Ji2016 E
LRRC19     11957.p1chr9:
26997891-26997891		GCexonicDe novononsynonymous SNVNM_022901c.C430Gp.L144V11.65-Ji2016 E
DDX58     11922.p1chr9:
32493940-32493940		CTexonicDe novononsynonymous SNVNM_014314c.G242Ap.G81D16.03-Ji2016 E
MYORG     12827.p1chr9:
34372637-34372637		AGexonicDe novounknown13.01-Ji2016 E
NCR1     14300.p1chr19:
55418040-55418040		GAexonicDe novononsynonymous SNVNM_001145457
NM_001145458
NM_004829		c.G230A
c.G230A
c.G230A		p.R77Q
p.R77Q
p.R77Q		10.541.651E-5Ji2016 E
DNAJB5     11188.p1chr9:
34997212-34997212		CGexonicDe novononsynonymous SNVNM_001135005
NM_012266
NM_001135004		c.C1219G
c.C1003G
c.C1345G		p.P407A
p.P335A
p.P449A		14.17-Ji2016 E
FAM214B     12232.p1chr9:
35106325-35106325		CTexonicDe novononsynonymous SNVNM_025182c.G1142Ap.C381Y19.62-Ji2016 E
RNF38     12056.p1chr9:
36375929-36375929		AGsplicingDe novosplicing20.7-Ji2016 E
FBXO10       11629.p1chr9:
37541606-37541606		CTexonicDe novononsynonymous SNVNM_012166c.G160Ap.E54K20.57.625E-5Ji2016 E
NDC80     12842.p1chr18:
2595619-2595619		CTexonicDe novononsynonymous SNVNM_006101c.C1220Tp.A407V14.918.376E-6Ji2016 E
APBA1     11333.p1chr9:
72047457-72047457		CTexonicDe novononsynonymous SNVNM_001163c.G2437Ap.G813R34.0-Ji2016 E
TRPM3     11782.p1chr9:
73151650-73151652		AGTAexonicDe novoframeshift deletionNM_206944
NM_001007471
NM_020952
NM_206945
NM_206947
NM_024971
NM_206946		c.3852_3853del
c.4341_4342del
c.3882_3883del
c.3888_3889del
c.3927_3928del
c.3918_3919del
c.3957_3958del		p.T1284fs
p.T1447fs
p.T1294fs
p.T1296fs
p.T1309fs
p.T1306fs
p.T1319fs		--Ji2016 E
RORB     14314.p1chr9:
77245254-77245254		TGexonicDe novononsynonymous SNVNM_006914c.T64Gp.Y22D24.6-Ji2016 E
TRPM6     12908.p1chr9:
77339567-77339567		TGexonicDe novononsynonymous SNVNM_001177310
NM_001177311
NM_017662		c.A6016C
c.A6016C
c.A6031C		p.T2006P
p.T2006P
p.T2011P		12.22-Ji2016 E
TRPM6     14448.p1chr9:
77416901-77416901		GTexonicDe novononsynonymous SNVNM_001177310
NM_001177311
NM_017662		c.C1907A
c.C1907A
c.C1922A		p.A636E
p.A636E
p.A641E		17.81-Ji2016 E
IQCB1     13621.p1chr3:
121507230-121507230		ACexonicDe novononsynonymous SNVNM_001023571
NM_001023570		c.T780G
c.T1179G		p.I260M
p.I393M		17.68-Ji2016 E
PRUNE2     14383.p1chr9:
79323453-79323453		CTexonicDe novononsynonymous SNVNM_001308047
NM_001308048
NM_015225		c.G3737A
c.G3737A
c.G3737A		p.R1246K
p.R1246K
p.R1246K		12.2-Ji2016 E
VPS13A     13623.p1chr9:
79932586-79932586		ATexonicDe novononsynonymous SNVNM_001018037
NM_001018038
NM_015186
NM_033305		c.A4811T
c.A4928T
c.A4928T
c.A4928T		p.D1604V
p.D1643V
p.D1643V
p.D1643V		16.82-Ji2016 E
TLE4     11199.p1chr9:
82337496-82337496		CTexonicDe novononsynonymous SNVNM_001282753
NM_001282749
NM_007005
NM_001282748
NM_001282760		c.C1910T
c.C2042T
c.C2117T
c.C2213T
c.C1754T		p.S637L
p.S681L
p.S706L
p.S738L
p.S585L		35.0-Ji2016 E
FRMD3     13598.p1chr9:
85926860-85926860		AGexonicDe novononsynonymous SNVNM_001244961
NM_001244959
NM_001244960
NM_174938		c.T133C
c.T715C
c.T583C
c.T715C		p.F45L
p.F239L
p.F195L
p.F239L		15.86-Ji2016 E
NTRK2     14626.p1chr9:
87338598-87338598		GTexonicDe novononsynonymous SNVNM_001018064
NM_001007097
NM_001018065
NM_001018066
NM_001291937
NM_006180		c.G694T
c.G694T
c.G694T
c.G694T
c.G694T
c.G694T		p.V232F
p.V232F
p.V232F
p.V232F
p.V232F
p.V232F		14.4-Ji2016 E
DAPK1     13884.p1chr9:
90264933-90264933		GAexonicDe novononsynonymous SNVNM_001288729
NM_001288730
NM_001288731
NM_004938		c.G1526A
c.G1526A
c.G1526A
c.G1526A		p.R509Q
p.R509Q
p.R509Q
p.R509Q		19.912.485E-5Ji2016 E
NFIL3     13703.p1chr9:
94172880-94172880		ACexonicDe novononsynonymous SNVNM_001289999
NM_001290000
NM_005384		c.T137G
c.T137G
c.T137G		p.L46R
p.L46R
p.L46R		25.9-Ji2016 E
FGD3     12187.p1chr9:
95782633-95782633		AGexonicDe novononsynonymous SNVNM_001083536
NM_001286993
NM_033086		c.A1421G
c.A1421G
c.A1421G		p.N474S
p.N474S
p.N474S		15.54-Ji2016 E
PHF2     13903.p1chr9:
96437988-96437988		CTexonicDe novostopgainNM_005392c.C2749Tp.Q917X36.0-Ji2016 E
TRMO     14287.p1chr9:
100672811-100672811		GAexonicDe novononsynonymous SNVNM_016481c.C497Tp.P166L36.04.119E-5Ji2016 E
TBC1D2     12967.p1chr9:
100962646-100962646		CTexonicDe novononsynonymous SNVNM_001267572
NM_001267571		c.G1088A
c.G2468A		p.R363H
p.R823H		27.52.31E-5Ji2016 E
MRPL50     12265.p1chr9:
104160870-104160870		GCexonicDe novononsynonymous SNVNM_019051c.C5Gp.A2G20.78.244E-6Ji2016 E
ABCA1     11149.p1chr9:
107558453-107558453		GCexonicDe novononsynonymous SNVNM_005502c.C5263Gp.P1755A26.8-Ji2016 E
ZNF462     11445.p1chr9:
109692806-109692806		CAexonicDe novononsynonymous SNVNM_021224c.C5848Ap.P1950T14.08-Ji2016 E
PTGR1     11526.p1chr9:
114341206-114341206		CTexonicDe novononsynonymous SNVNM_001146108
NM_001146109
NM_012212		c.G521A
c.G521A
c.G521A		p.G174E
p.G174E
p.G174E		16.61-Ji2016 E
INIP     14548.p1chr9:
115456456-115456456		TGexonicDe novononsynonymous SNVNM_021218c.A83Cp.K28T14.89-Ji2016 E
AMBP     13993.p1chr9:
116824955-116824955		AGsplicingDe novosplicing13.58-Ji2016 E
AKNA     11215.p1chr9:
117103870-117103870		GAexonicDe novononsynonymous SNVNM_030767c.C4010Tp.P1337L13.591.649E-5Ji2016 E
LYSMD4     12820.p1chr15:
100272044-100272044		TCexonicDe novononsynonymous SNVNM_001284417
NM_001284418
NM_001284419
NM_152449		c.A161G
c.A161G
c.A73G
c.A73G		p.E54G
p.E54G
p.S25G
p.S25G		17.83-Ji2016 E
PHF19     12304.p1chr9:
123636848-123636848		CTexonicDe novononsynonymous SNVNM_001009936
NM_001286840
NM_001286843
NM_015651		c.G172A
c.G229A
c.G172A
c.G172A		p.G58R
p.G77R
p.G58R
p.G58R		29.7-Ji2016 E
MRRF     13692.p1chr9:
125054092-125054092		GAexonicDe novononsynonymous SNVNM_001173512
NM_199177
NM_138777		c.G368A
c.G524A
c.G524A		p.G123E
p.G175E
p.G175E		20.1-Ji2016 E
GAPVD1     14368.p1chr9:
128092441-128092441		CGexonicDe novononsynonymous SNVNM_001282681
NM_015635
NM_001282679
NM_001282680		c.C2054G
c.C2117G
c.C2117G
c.C2117G		p.T685S
p.T706S
p.T706S
p.T706S		21.1-Ji2016 E
GAPVD1     13732.p1chr9:
128117108-128117108		GCexonicDe novononsynonymous SNVNM_001282681
NM_015635
NM_001282679
NM_001282680		c.G3682C
c.G3826C
c.G3799C
c.G3745C		p.E1228Q
p.E1276Q
p.E1267Q
p.E1249Q		14.83-Ji2016 E
GAPVD1     14592.p1chr9:
128118025-128118025		CAexonicDe novononsynonymous SNVNM_001282681
NM_015635
NM_001282679
NM_001282680		c.C3797A
c.C3941A
c.C3914A
c.C3860A		p.A1266E
p.A1314E
p.A1305E
p.A1287E		34.0-Ji2016 E
SH2D3C     12233.p1chr9:
130513455-130513455		CTexonicDe novononsynonymous SNVNM_001142533
NM_001142534
NM_005489
NM_001252334
NM_170600		c.G206A
c.G200A
c.G209A
c.G476A
c.G680A		p.R69Q
p.R67Q
p.R70Q
p.R159Q
p.R227Q		29.51.652E-5Ji2016 E
SPTAN1     14468.p1chr9:
131386710-131386710		AGexonicDe novononsynonymous SNVNM_001195532
NM_003127
NM_001130438		c.A5861G
c.A5921G
c.A5936G		p.E1954G
p.E1974G
p.E1979G		21.4-Ji2016 E
NUP188     11937.p1chr9:
131715118-131715118		CAexonicDe novononsynonymous SNVNM_015354c.C154Ap.P52T29.3-Ji2016 E
PTGES     13822.p1chr9:
132501907-132501907		CTexonicDe novononsynonymous SNVNM_004878c.G442Ap.A148T13.65-Ji2016 E
ABL1     14373.p1chr9:
133730284-133730284		CTexonicDe novononsynonymous SNVNM_005157
NM_007313		c.C350T
c.C407T		p.T117M
p.T136M		33.0-Ji2016 E
LAMC3     11666.p1chr9:
133914290-133914290		AGexonicDe novononsynonymous SNVNM_006059c.A1016Gp.D339G19.64-Ji2016 E
LAMC3     11704.p1chr9:
133952690-133952690		AGexonicDe novononsynonymous SNVNM_006059c.A3746Gp.Y1249C10.13-Ji2016 E
NUP214     12289.p1chr9:
134049607-134049607		GAexonicDe novononsynonymous SNVNM_005085c.G3059Ap.R1020H36.01.648E-5Ji2016 E
SETX     14061.p1chr9:
135153629-135153629		CTexonicDe novononsynonymous SNVNM_015046c.G6670Ap.G2224S32.08.237E-6Ji2016 E
BRD3     11263.p1chr9:
136899892-136899892		TCexonicDe novononsynonymous SNVNM_007371c.A1996Gp.K666E19.431.0E-4Ji2016 E
SOHLH1     11216.p1chr9:
138590177-138590177		CTexonicDe novononsynonymous SNVNM_001012415
NM_001101677		c.G343A
c.G343A		p.A115T
p.A115T		12.172.498E-5Ji2016 E
GPSM1     14540.p1chr9:
139231956-139231956		GAexonicDe novononsynonymous SNVNM_001145638
NM_015597		c.G637A
c.G637A		p.G213S
p.G213S		34.04.079E-5Ji2016 E
SDCCAG3     13602.p1chr9:
139304580-139304580		TTTexonicDe novostopgainNM_001039707
NM_006643		c.182dupA
c.182dupA		p.Y61_V62delinsX
p.Y61_V62delinsX		--Ji2016 E
NOTCH1     13344.p1chr9:
139396487-139396487		CTexonicDe novostopgainNM_017617c.G5438Ap.W1813X46.0-Ji2016 E
LCN10     11252.p1chr9:
139636334-139636334		GAexonicDe novononsynonymous SNVNM_001001712c.C256Tp.R86W18.013.428E-5Ji2016 E
CCDC183     11337.p1chr9:
139699840-139699840		GAexonicDe novononsynonymous SNVNM_001039374c.G879Ap.M293I11.76-Ji2016 E
ABCA2     12225.p1chr9:
139906388-139906388		CTexonicDe novononsynonymous SNVNM_001606
NM_212533		c.G5443A
c.G5533A		p.V1815M
p.V1845M		15.358.46E-6Ji2016 E
IQGAP1     13762.p1chr15:
91010810-91010810		CTexonicDe novononsynonymous SNVNM_003870c.C2164Tp.R722W15.0-Ji2016 E
ZNF536     11588.p1chr19:
31039705-31039706		ACAexonicDe novoframeshift deletionNM_014717c.3180delCp.N1060fs--Ji2016 E
TUBB4B     14686.p1chr9:
140137227-140137227		CTexonicDe novononsynonymous SNVNM_006088c.C557Tp.T186I18.1-Ji2016 E
PNPLA7     12249.p1chr9:
140357232-140357232		TGexonicDe novononsynonymous SNVNM_152286
NM_001098537		c.A3322C
c.A3397C		p.S1108R
p.S1133R		20.1-Ji2016 E
PNPLA7     14189.p1chr9:
140358800-140358800		GAexonicDe novostopgainNM_152286
NM_001098537		c.C3073T
c.C3148T		p.Q1025X
p.Q1050X		33.0-Ji2016 E
TUBB8     14485.p1chr10:
93257-93257		GAexonicDe novononsynonymous SNVNM_177987c.C1075Tp.R359W10.710.0011Ji2016 E
LARP4B     14093.p1chr10:
876865-876867		TCATexonicDe novoframeshift deletionNM_015155c.801_802delp.C267fs--Ji2016 E
WDR37     13998.p1chr10:
1118115-1118115		GAexonicDe novononsynonymous SNVNM_014023c.G20Ap.S7N15.62-Ji2016 E
AKR1C2     13399.p1chr10:
5032204-5032204		AGexonicDe novononsynonymous SNVNM_205845
NM_001354		c.T956C
c.T956C		p.F319S
p.F319S		10.63-Ji2016 E
AKR1C2     11214.p1chr10:
5042775-5042775		GTexonicDe novononsynonymous SNVNM_001135241
NM_205845
NM_001354		c.C336A
c.C336A
c.C336A		p.D112E
p.D112E
p.D112E		15.42-Ji2016 E
FBXO18     11252.p1chr10:
5963470-5963470		GAexonicDe novononsynonymous SNVNM_001258452
NM_178150
NM_001258453
NM_032807		c.G2038A
c.G2260A
c.G2038A
c.G2413A		p.V680M
p.V754M
p.V680M
p.V805M		21.9-Ji2016 E
FBXO18     11318.p1chr10:
5979124-5979124		CTexonicDe novostopgainNM_178150
NM_001258452
NM_001258453
NM_032807		c.C3013T
c.C2842T
c.C2791T
c.C3166T		p.Q1005X
p.Q948X
p.Q931X
p.Q1056X		41.0-Ji2016 E
ECHDC3     14404.p1chr10:
11789383-11789383		CTexonicDe novononsynonymous SNVNM_024693c.C206Tp.A69V23.98.237E-6Ji2016 E
UCMA     11367.p1chr10:
13275601-13275601		CTexonicDe novononsynonymous SNVNM_145314c.G157Ap.D53N27.5-Ji2016 E
PRPF18     14526.p1chr10:
13629108-13629108		AGexonicDe novononsynonymous SNVNM_003675c.A22Gp.I8V19.03-Ji2016 E
NMT2     12539.p1chr10:
15183471-15183471		ATexonicDe novononsynonymous SNVNM_001308295
NM_004808		c.T114A
c.T196A		p.S38R
p.S66T		14.97-Ji2016 E
ITGA8     13306.p1chr10:
15634273-15634273		GAexonicDe novononsynonymous SNVNM_001291494
NM_003638		c.C2197T
c.C2242T		p.R733C
p.R748C		24.21.0E-4Ji2016 E
CUBN     13844.p1chr10:
17127755-17127755		GAexonicDe novostopgainNM_001081c.C1951Tp.R651X41.0-Ji2016 E
SLC39A12     12261.p1chr10:
18250538-18250538		TCexonicDe novononsynonymous SNVNM_001145195
NM_001282733
NM_152725		c.T290C
c.T290C
c.T290C		p.I97T
p.I97T
p.I97T		11.1-Ji2016 E
SKIDA1     11925.p1chr10:
21805727-21805728		TGTexonicDe novoframeshift deletionNM_207371c.1024delCp.H342fs--Ji2016 E
WAC     14200.p1chr10:
28879673-28879675		CAACexonicDe novoframeshift deletionNM_016628
NM_100264
NM_100486		c.523_524del
c.388_389del
c.523_524del		p.K175fs
p.K130fs
p.K175fs		--Ji2016 E
WAC     14204.p1chr10:
28899668-28899672		AATTCAexonicDe novoframeshift deletionNM_100486
NM_016628
NM_100264		c.898_901del
c.1207_1210del
c.1072_1075del		p.I300fs
p.I403fs
p.I358fs		--Ji2016 E
JCAD     13271.p1chr10:
30317090-30317090		CTexonicDe novononsynonymous SNVNM_020848c.G1987Ap.D663N17.68-Ji2016 E
HNRNPF     11043.p1chr10:
43883191-43883191		TCexonicDe novononsynonymous SNVNM_001098208
NM_001098204
NM_001098205
NM_001098206
NM_001098207
NM_004966		c.A142G
c.A142G
c.A142G
c.A142G
c.A142G
c.A142G		p.T48A
p.T48A
p.T48A
p.T48A
p.T48A
p.T48A		10.65-Ji2016 E
WDFY4     11178.p1chr10:
50109868-50109868		CAexonicDe novononsynonymous SNVNM_020945c.C7546Ap.L2516M15.88-Ji2016 E
ANK3     14016.p1chr10:
61833372-61833372		GAexonicDe novononsynonymous SNVNM_020987c.C7267Tp.R2423C18.178.26E-6Ji2016 E
ANK3     11540.p1chr10:
61833827-61833827		AGexonicDe novononsynonymous SNVNM_020987c.T6812Cp.M2271T13.118.24E-6Ji2016 E
OPN1MW     12228.p1chrX:
153496186-153496186		CGexonicDe novononsynonymous SNVNM_000513
NM_001048181		c.C914G
c.C914G		p.A305G
p.A305G		19.121.0E-4Ji2016 E
CTNNA3     13829.p1chr10:
68535201-68535201		CAsplicingDe novosplicing23.1-Ji2016 E
RUFY2     13979.p1chr10:
70143890-70143890		TCexonicDe novononsynonymous SNVNM_001042417
NM_001278225
NM_017987		c.A638G
c.A566G
c.A845G		p.N213S
p.N189S
p.N282S		13.59-Ji2016 E
TET1     11242.p1chr10:
70333978-70333978		AGexonicDe novononsynonymous SNVNM_030625c.A1883Gp.K628R15.29-Ji2016 E
DDX50     14251.p1chr10:
70670829-70670829		GAexonicDe novononsynonymous SNVNM_024045c.G466Ap.G156R24.1-Ji2016 E
ZSWIM8     13735.p1chr10:
75560469-75560469		CGexonicDe novononsynonymous SNVNM_001242487
NM_001242488
NM_015037		c.C5083G
c.C5059G
c.C5098G		p.P1695A
p.P1687A
p.P1700A		18.761.657E-5Ji2016 E
PTEN     13991.p1chr10:
89692790-89692790		GAexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.G274A
c.G793A		p.D92N
p.D265N		33.0-Ji2016 E
PTEN     14433.p1chr10:
89692908-89692908		CTexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.C392T
c.C911T		p.T131I
p.T304I		27.8-Ji2016 E
PTEN     11390.p1chr10:
89711882-89711882		CAexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.C500A
c.C1019A		p.T167N
p.T340N		28.6-Ji2016 E
BTAF1     11025.p1chr10:
93723898-93723899		CACexonicDe novoframeshift deletionNM_003972c.1470delAp.T490fs--Ji2016 E
PDE6C     11984.p1chr10:
95372793-95372793		GAexonicDe novononsynonymous SNVNM_006204c.G311Ap.R104Q33.08.259E-6Ji2016 E
SORBS1     13147.p1chr10:
97098949-97098951		CCACexonicDe novoframeshift deletionNM_006434
NM_001034957
NM_001290295
NM_001290297
NM_015385
NM_001290298
NM_024991
NM_001034956
NM_001290296
NM_001034954
NM_001034955
NM_001290294		c.1754_1755del
c.1922_1923del
c.1949_1950del
c.2135_2136del
c.2150_2151del
c.2240_2241del
c.2045_2046del
c.2357_2358del
c.2714_2715del
c.2804_2805del
c.2870_2871del
c.2666_2667del		p.V585fs
p.V641fs
p.V650fs
p.V712fs
p.V717fs
p.V747fs
p.V682fs
p.V786fs
p.V905fs
p.V935fs
p.V957fs
p.V889fs		--Ji2016 E
ALDH18A1     11931.p1chr10:
97371016-97371016		CGexonicDe novononsynonymous SNVNM_001017423
NM_002860		c.G2101C
c.G2107C		p.D701H
p.D703H		14.45-Ji2016 E
SCN4A     13646.p1chr17:
62049125-62049125		GAexonicDe novononsynonymous SNVNM_000334c.C568Tp.R190W19.761.273E-5