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Exact

Results for "Lim2017"

Variant Events: 3462

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
GON4L     NDAR_INVEB022VLQ_wes1chr1:
155734686-155734686
GTexonicDe novosynonymous SNVNM_001282861
NM_032292
c.C4578A
c.C4578A
p.I1526I
p.I1526I
--Lim2017 E
DAP3     AC02-1140-01chr1:
155707992-155707992
GAexonicDe novononsynonymous SNVNM_001199850
NM_001199851
NM_004632
NM_033657
NM_001199849
c.G1054A
c.G1033A
c.G1156A
c.G1156A
c.G1156A
p.A352T
p.A345T
p.A386T
p.A386T
p.A386T
2.6613.306E-5Lim2017 E
GON4L     SSC07823chr1:
155792248-155792248
TGexonicDe novononsynonymous SNVNM_001282856
NM_001282858
NM_001282860
NM_001282861
NM_032292
c.A717C
c.A717C
c.A717C
c.A717C
c.A717C
p.E239D
p.E239D
p.E239D
p.E239D
p.E239D
15.2-Lim2017 E
GON4L     SSC02037chr1:
155736011-155736011
GAexonicDe novosynonymous SNVNM_001282856
NM_001282858
NM_001282860
NM_001282861
NM_032292
c.C3253T
c.C3253T
c.C3253T
c.C3253T
c.C3253T
p.L1085L
p.L1085L
p.L1085L
p.L1085L
p.L1085L
--Lim2017 E
ADAM15     ASDFI_1061chr1:
155026403-155026403
GAexonicDe novononsynonymous SNVNM_001261464
NM_001261465
NM_001261466
NM_003815
NM_207191
NM_207194
NM_207195
NM_207196
NM_207197
c.G311A
c.G281A
c.G233A
c.G281A
c.G281A
c.G281A
c.G281A
c.G281A
c.G281A
p.R104H
p.R94H
p.R78H
p.R94H
p.R94H
p.R94H
p.R94H
p.R94H
p.R94H
12.28.247E-6Lim2017 E
TDRD10     Lim2017:36863chr1:
154493911-154493911
CTexonicDe novononsynonymous SNVNM_001098475
NM_182499
c.C325T
c.C325T
p.P109S
p.P109S
19.44-Lim2017 E
FAM189B     AU01303chr1:
155217658-155217658
CTexonicDe novononsynonymous SNVNM_198264
NM_001267608
NM_006589
c.G1634A
c.G1868A
c.G1922A
p.R545H
p.R623H
p.R641H
21.01.0E-4Lim2017 E
TGFBR2     G01-GEA-96-HIchr3:
30715656-30715656
TCexonicMosaicsynonymous SNVNM_003242
NM_001024847
c.T1314C
c.T1389C
p.N438N
p.N463N
-8.237E-6Lim2017 E
THBS3     SSC10287chr1:
155168285-155168285
AGexonicDe novosynonymous SNVNM_001252608
NM_001252607
NM_007112
c.T1629C
c.T1962C
c.T1989C
p.D543D
p.D654D
p.D663D
--Lim2017 E
OR10J3     Lim2017:31780chr1:
159283723-159283723
CTexonicDe novononsynonymous SNVNM_001004467c.G727Ap.A243T15.123.297E-5Lim2017 E
PYHIN1     SSC07646chr1:
158912155-158912155
GAexonicDe novononsynonymous SNVNM_152501
NM_198928
NM_198929
NM_198930
c.G968A
c.G941A
c.G968A
c.G941A
p.G323E
p.G314E
p.G323E
p.G314E
13.35-Lim2017 E
ATP1A4     Lim2017:70421chr1:
160125943-160125943
CTexonicDe novononsynonymous SNVNM_144699c.C520Tp.P174S22.7-Lim2017 E
FCRL6     SSC00558chr1:
159778750-159778750
GAsplicingDe novosplicing11.07-Lim2017 E
PEAR1     SSC10273chr1:
156883034-156883034
CTexonicDe novononsynonymous SNVNM_001080471c.C2471Tp.T824I32.0-Lim2017 E
TTC24     11488.p1chr1:
156553164-156553164
TGexonicDe novosynonymous SNVNM_001105669c.T1074Gp.G358G9.2271.783E-5Lim2017 E
PYHIN1     SSC11302chr1:
158906752-158906752
AGexonicDe novononsynonymous SNVNM_152501
NM_198928
NM_198929
NM_198930
c.A52G
c.A52G
c.A52G
c.A52G
p.N18D
p.N18D
p.N18D
p.N18D
12.15-Lim2017 E
OR6N2     SSC02938chr1:
158746730-158746730
TCexonicDe novosynonymous SNVNM_001005278c.A696Gp.S232S--Lim2017 E
ATP1B1     SSC06937chr1:
169094277-169094277
GAexonicDe novononsynonymous SNVNM_001677c.G382Ap.D128N7.2561.0E-4Lim2017 E
GPR161     NP027chr1:
168066418-168066418
GTexonicDe novosynonymous SNVNM_001267613
NM_001267614
NM_001267611
NM_001267612
NM_001267609
NM_001267610
NM_153832
c.C193A
c.C85A
c.C478A
c.C31A
c.C487A
c.C427A
c.C427A
p.R65R
p.R29R
p.R160R
p.R11R
p.R163R
p.R143R
p.R143R
--Lim2017 E
METTL11B     SSC07571chr1:
170136849-170136849
AGexonicDe novononsynonymous SNVNM_001136107c.A803Gp.Q268R13.11-Lim2017 E
STAB2     Lim2017:10291chr12:
104109603-104109603
GAexonicDe novosynonymous SNVNM_017564c.G4548Ap.P1516P-1.648E-5Lim2017 E
CCDC181     SSC02972chr1:
169390748-169390748
GAexonicDe novosynonymous SNVNM_001300969
NM_021179
NM_001300968
c.C921T
c.C921T
c.C921T
p.N307N
p.N307N
p.N307N
--Lim2017 E
ARHGAP30     Lim2017:35857chr1:
161017762-161017762
GAexonicDe novostopgainNM_001287602
NM_001287600
NM_001025598
NM_181720
c.C2518T
c.C2605T
c.C3049T
c.C2416T
p.R840X
p.R869X
p.R1017X
p.R806X
41.0-Lim2017 E
ATP6V1B2     NP128chr8:
20072400-20072400
GAexonicDe novosynonymous SNVNM_001693c.G999Ap.T333T-8.248E-6Lim2017 E
VANGL2     SSC03000chr1:
160393871-160393871
CTexonicDe novononsynonymous SNVNM_020335c.C1103Tp.T368I14.85-Lim2017 E
ADCY10     SSC06754chr1:
167870958-167870958
GAexonicDe novosynonymous SNVNM_001297772
NM_018417
c.C102T
c.C378T
p.I34I
p.I126I
--Lim2017 E
ADCY10     SSC09641chr1:
167815087-167815087
GAexonicMosaicsynonymous SNVNM_001167749
NM_001297772
NM_018417
c.C2262T
c.C2445T
c.C2721T
p.H754H
p.H815H
p.H907H
-1.648E-5Lim2017 E
MR1     SSC05067chr1:
181021601-181021601
CTexonicDe novononsynonymous SNVNM_001194999
NM_001531
c.C700T
c.C835T
p.H234Y
p.H279Y
11.78-Lim2017 E
CEP350     Lim2017:4892chr1:
179983048-179983048
ACexonicDe novononsynonymous SNVNM_014810c.A1460Cp.N487T8.7-Lim2017 E
DHX9     SSC05600chr1:
182852665-182852665
GAexonicDe novononsynonymous SNVNM_001357c.G3155Ap.R1052Q33.0-Lim2017 E
CACNA1E     Lim2017:5898chr1:
181708295-181708295
GAexonicDe novononsynonymous SNVNM_001205294
NM_000721
NM_001205293
c.G3568A
c.G3625A
c.G3625A
p.G1190S
p.G1209S
p.G1209S
35.0-Lim2017 E
SLC9C2     Lim2017:70327chr1:
173490530-173490530
GAexonicDe novosynonymous SNVNM_178527c.C2649Tp.A883A--Lim2017 E
FMO3     SSC06996chr1:
171086567-171086567
CTexonicDe novosynonymous SNVNM_001002294
NM_006894
c.C1584T
c.C1584T
p.F528F
p.F528F
--Lim2017 E
ABL2     SSC11000chr1:
179077107-179077107
CTexonicDe novononsynonymous SNVNM_001168236
NM_001168238
NM_001168239
NM_005158
NM_007314
NM_001136000
NM_001168237
c.G3232A
c.G2923A
c.G2878A
c.G3250A
c.G3295A
c.G2941A
c.G2986A
p.A1078T
p.A975T
p.A960T
p.A1084T
p.A1099T
p.A981T
p.A996T
20.9-Lim2017 E
RFWD2     Lim2017:37418chr1:
175958552-175958552
TCexonicDe novononsynonymous SNVNM_001286644
NM_001001740
NM_022457
c.A1073G
c.A1721G
c.A1793G
p.H358R
p.H574R
p.H598R
24.3-Lim2017 E
CRB1     SSC09520chr1:
197297759-197297759
GAexonicMosaicnonsynonymous SNVNM_001193640
NM_001257966
NM_201253
NM_001257965
c.G278A
c.G278A
c.G278A
c.G71A
p.S93N
p.S93N
p.S93N
p.S24N
2.4138.242E-6Lim2017 E
ZBTB41     Lim2017:5421chr1:
197128563-197128563
AGexonicDe novononsynonymous SNVNM_194314c.T2656Cp.Y886H21.7-Lim2017 E
CACNA1S     SSC05167chr1:
201047218-201047218
CTexonicDe novononsynonymous SNVNM_000069c.G1408Ap.V470M15.31-Lim2017 E
KIF14     SSC11682chr1:
200584483-200584483
GAexonicDe novononsynonymous SNVNM_014875c.C1367Tp.T456M31.0-Lim2017 E
HMCN1     Lim2017:6239chr1:
185984388-185984388
GCexonicDe novononsynonymous SNVNM_031935c.G4728Cp.M1576I11.22-Lim2017 E
SMG7     Lim2017:70513chr1:
183502868-183502868
CTexonicDe novononsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569
c.C938T
c.C1064T
c.C1064T
c.C1064T
p.S313F
p.S355F
p.S355F
p.S355F
14.22-Lim2017 E
TPR     SSC09647chr1:
186344048-186344048
CTexonicMosaicnonsynonymous SNVNM_003292c.G113Ap.G38D12.58-Lim2017 E
PRG4     SSC00317chr1:
186281435-186281435
AGexonicDe novononsynonymous SNVNM_001127710
NM_001127709
NM_001127708
NM_001303232
NM_005807
c.A3520G
c.A3643G
c.A3799G
c.A3793G
c.A3922G
p.I1174V
p.I1215V
p.I1267V
p.I1265V
p.I1308V
4.741-Lim2017 E
ATP2B4     SSC04564chr1:
203652386-203652386
GAexonicDe novononsynonymous SNVNM_001001396
NM_001684
c.G53A
c.G53A
p.R18H
p.R18H
0.0955.767E-5Lim2017 E
FMOD     SSC00977chr1:
203316602-203316602
CGexonicDe novononsynonymous SNVNM_002023c.G797Cp.G266A1.302-Lim2017 E
ETNK2     SSC09194chr1:
204103821-204103821
CAexonicDe novononsynonymous SNVNM_001297760c.G1016Tp.G339V10.29-Lim2017 E
ZC3H11A       Lim2017:70524chr1:
203816493-203816493
GTexonicDe novononsynonymous SNVNM_014827c.G1224Tp.E408D20.1-Lim2017 E
PTPN7     Lim2017:70524chr1:
202119524-202119524
TCexonicDe novononsynonymous SNVNM_080588
NM_001199797
NM_002832
c.A1021G
c.A1126G
c.A1219G
p.I341V
p.I376V
p.I407V
20.9-Lim2017 E
IGFN1     Lim2017:78715chr1:
201178796-201178796
GTexonicDe novononsynonymous SNVNM_001164586c.G4775Tp.G1592V10.75-Lim2017 E
SCN2A     ASDFI_732chr2:
166152578-166152578
AGexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.A245G
c.A245G
c.A245G
p.D82G
p.D82G
p.D82G
19.73-Lim2017 E
KDM5B     SSC08501chr1:
202715066-202715066
AGexonicDe novononsynonymous SNVNM_006618
NM_001314042
c.T2243C
c.T2351C
p.L748S
p.L784S
26.2-Lim2017 E
KDM5B     SSC08721chr1:
202698172-202698172
GAexonicDe novostopgainNM_006618
NM_001314042
c.C4627T
c.C4735T
p.R1543X
p.R1579X
43.0-Lim2017 E
ABCA12     G01-GEA-132-HIchr2:
215809820-215809820
CTexonicDe novosynonymous SNVNM_015657
NM_173076
c.G6294A
c.G7248A
p.P2098P
p.P2416P
-8.736E-6Lim2017 E
PTPN14     SSC11148chr1:
214638045-214638045
CTexonicDe novosynonymous SNVNM_005401c.G102Ap.E34E--Lim2017 E
ANGEL2     SSC11991chr1:
213168518-213168518
CTexonicDe novosynonymous SNVNM_001300757
NM_001300758
NM_001300753
NM_001300755
NM_144567
c.G993A
c.G993A
c.G1122A
c.G1122A
c.G1500A
p.L331L
p.L331L
p.L374L
p.L374L
p.L500L
--Lim2017 E
ZNF678     SSC06810chr1:
227843134-227843134
CAexonicDe novononsynonymous SNVNM_178549c.C1348Ap.H450N12.44-Lim2017 E
USH2A     Lim2017:35873chr1:
215963541-215963541
TGexonicDe novononsynonymous SNVNM_206933c.A10042Cp.I3348L12.12-Lim2017 E
PM20D1     SSC07586chr1:
205797834-205797834
AGexonicDe novononsynonymous SNVNM_152491c.T1423Cp.Y475H14.02-Lim2017 E
SCN2A     AU026Achr2:
166170231-166170231
GAexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.G1136A
c.G1136A
c.G1136A
p.R379H
p.R379H
p.R379H
35.0-Lim2017 E
PPP1R15B     SSC11828chr1:
204379242-204379242
GAexonicDe novononsynonymous SNVNM_032833c.C1298Tp.A433V16.0-Lim2017 E
SCN2A     DEASD_0143_001chr2:
166170231-166170231
GAexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.G1136A
c.G1136A
c.G1136A
p.R379H
p.R379H
p.R379H
35.0-Lim2017 E
INTS7     SSC04824chr1:
212190300-212190300
CGexonicDe novononsynonymous SNVNM_001199809
NM_001199811
NM_001199812
NM_015434
c.G290C
c.G437C
c.G437C
c.G437C
p.S97T
p.S146T
p.S146T
p.S146T
30.0-Lim2017 E
LAMB3     SSC06545chr1:
209823359-209823359
ACexonicDe novononsynonymous SNVNM_001017402
NM_000228
NM_001127641
c.T133G
c.T133G
c.T133G
p.S45A
p.S45A
p.S45A
22.7-Lim2017 E
PLD5     SSC07586chr1:
242383342-242383342
TCexonicMosaicnonsynonymous SNVNM_001195812
NM_001195811
NM_152666
c.A59G
c.A497G
c.A683G
p.K20R
p.K166R
p.K228R
11.14-Lim2017 E
LYST     SSC03679chr1:
235973332-235973332
TCexonicDe novosynonymous SNVNM_000081
NM_001301365
c.A786G
c.A786G
p.L262L
p.L262L
--Lim2017 E
HNRNPU     10C108344chr1:
245027251-245027251
GAexonicDe novononsynonymous SNVNM_004501
NM_031844
c.C359T
c.C359T
p.P120L
p.P120L
14.13-Lim2017 E
HNRNPU     SSC09263chr1:
245027141-245027141
CGexonicDe novononsynonymous SNVNM_004501
NM_031844
c.G469C
c.G469C
p.G157R
p.G157R
12.79-Lim2017 E
OBSCN     SSC02395chr1:
228434310-228434310
GAexonicDe novononsynonymous SNVNM_001098623
NM_052843
NM_001271223
c.G3839A
c.G3839A
c.G4115A
p.C1280Y
p.C1280Y
p.C1372Y
14.12-Lim2017 E
OBSCN     10C104458chr1:
228434296-228434296
TGexonicDe novononsynonymous SNVNM_001098623
NM_052843
NM_001271223
c.T3825G
c.T3825G
c.T4101G
p.S1275R
p.S1275R
p.S1367R
6.1064.213E-5Lim2017 E
DISC1     SSC04771chr1:
231935948-231935948
CGexonicDe novononsynonymous SNVNM_001164540
NM_001012957
NM_001012959
NM_001164538
NM_001164539
NM_001164541
NM_001164542
NM_001164544
NM_018662
NM_001164537
c.C1418G
c.C1784G
c.C1784G
c.C1784G
c.C1784G
c.C1784G
c.C1784G
c.C1784G
c.C1784G
c.C1880G
p.A473G
p.A595G
p.A595G
p.A595G
p.A595G
p.A595G
p.A595G
p.A595G
p.A595G
p.A627G
20.4-Lim2017 E
NUP133     SSC05931chr1:
229637765-229637765
GAexonicDe novononsynonymous SNVNM_018230c.C386Tp.A129V15.03-Lim2017 E
CMPK2     SSC07370chr2:
6990025-6990025
GAexonicDe novostopgainNM_207315c.C1306Tp.Q436X14.8-Lim2017 E
PXDN     SSC06985chr2:
1658190-1658190
CTexonicDe novononsynonymous SNVNM_012293c.G1928Ap.R643Q19.98-Lim2017 E
GREB1     G01-GEA-31-HIchr2:
11733242-11733242
CTexonicDe novosynonymous SNVNM_014668c.C1686Tp.I562I--Lim2017 E
PDIA6     Lim2017:4896chr2:
10931993-10931993
TCexonicDe novononsynonymous SNVNM_005742
NM_001282705
NM_001282706
NM_001282707
NM_001282704
c.A512G
c.A656G
c.A527G
c.A503G
c.A668G
p.D171G
p.D219G
p.D176G
p.D168G
p.D223G
15.76-Lim2017 E
OR11L1     Lim2017:6263chr1:
248005027-248005027
GCexonicDe novononsynonymous SNVNM_001001959c.C172Gp.P58A14.4-Lim2017 E
NLRP3     Lim2017:35953chr1:
247582253-247582253
GAexonicDe novononsynonymous SNVNM_001127462
NM_001243133
NM_004895
NM_183395
NM_001127461
NM_001079821
c.G157A
c.G151A
c.G157A
c.G157A
c.G157A
c.G157A
p.D53N
p.D51N
p.D53N
p.D53N
p.D53N
p.D53N
22.28.266E-6Lim2017 E
OR2T10     Lim2017:68632chr1:
248756275-248756275
GTexonicDe novostopgainNM_001004693c.C795Ap.Y265X10.2-Lim2017 E
OR2T1     SSC09641chr1:
248569659-248569659
AGexonicDe novononsynonymous SNVNM_030904c.A364Gp.M122V7.92-Lim2017 E
HADHA     Lim2017:70381chr2:
26432717-26432717
CAexonicDe novononsynonymous SNVNM_000182c.G1017Tp.L339F19.12-Lim2017 E
DNMT3A     SSC06157chr2:
25464520-25464520
CAexonicDe novononsynonymous SNVNM_153759
NM_022552
NM_175629
c.G1426T
c.G1993T
c.G1993T
p.V476L
p.V665L
p.V665L
33.08.343E-6Lim2017 E
ABHD1     11C120770chr2:
27351990-27351990
CTexonicDe novosynonymous SNVNM_032604c.C453Tp.G151G--Lim2017 E
EMILIN1     SSC05396chr2:
27304987-27304987
ACexonicDe novononsynonymous SNVNM_007046c.A548Cp.E183A14.11-Lim2017 E
ITSN2     SSC03134chr2:
24518595-24518595
CTexonicDe novononsynonymous SNVNM_006277
NM_019595
NM_147152
c.G1573A
c.G1573A
c.G1573A
p.V525I
p.V525I
p.V525I
11.83-Lim2017 E
SMC6     Lim2017:68544chr2:
17877683-17877683
TGexonicDe novononsynonymous SNVNM_024624
NM_001142286
c.A2405C
c.A2405C
p.N802T
p.N802T
14.7-Lim2017 E
NCOA1     SSC09383chr2:
24928022-24928022
CTexonicDe novosynonymous SNVNM_003743
NM_147223
NM_147233
c.C1017T
c.C1017T
c.C1017T
p.S339S
p.S339S
p.S339S
-3.296E-5Lim2017 E
POC1A     G01-GEA-55-HIchr3:
52172194-52172194
GAexonicDe novosynonymous SNVNM_001161580
NM_001161581
NM_015426
c.C804T
c.C690T
c.C804T
p.H268H
p.H230H
p.H268H
-1.649E-5Lim2017 E
NCOA1     SSC05163chr2:
24920563-24920563
CGexonicDe novononsynonymous SNVNM_003743
NM_147223
NM_147233
c.C845G
c.C845G
c.C845G
p.A282G
p.A282G
p.A282G
29.8-Lim2017 E
SCN2A     DEASD_0262_001chr2:
166245137-166245137
ATsplicingDe novosplicing12.35-Lim2017 E
NLRC4     Lim2017:36974chr2:
32475483-32475483
TCexonicDe novononsynonymous SNVNM_001199138
NM_001199139
NM_021209
c.A1450G
c.A1450G
c.A1450G
p.T484A
p.T484A
p.T484A
10.31-Lim2017 E
MEMO1   SSC08980chr2:
32168370-32168370
CTsplicingDe novosplicing15.93-Lim2017 E
BIRC6     SSC05861chr2:
32730150-32730150
GCexonicMosaicnonsynonymous SNVNM_016252c.G9578Cp.R3193P34.0-Lim2017 E
BIRC6     SSC06522chr2:
32658756-32658756
CGexonicDe novononsynonymous SNVNM_016252c.C3293Gp.A1098G16.82-Lim2017 E
CAD     Lim2017:35961chr2:
27455388-27455388
TGexonicDe novosynonymous SNVNM_001306079
NM_004341
c.T2529G
c.T2718G
p.V843V
p.V906V
--Lim2017 E
CAD     SSC07542chr2:
27445812-27445812
TCexonicDe novononsynonymous SNVNM_001306079
NM_004341
c.T716C
c.T716C
p.V239A
p.V239A
7.444-Lim2017 E
C2orf71     SSC08056chr2:
29295335-29295335
GAexonicDe novononsynonymous SNVNM_001029883c.C1793Tp.S598L10.8-Lim2017 E
CCDC121     SSC04826chr2:
27851481-27851481
TGexonicDe novosynonymous SNVNM_001142683c.A150Cp.G50G--Lim2017 E
NRXN1     SSC04927chr2:
50724605-50724605
ATexonicDe novostopgainNM_004801
NM_001135659
c.T2745A
c.T2865A
p.Y915X
p.Y955X
49.0-Lim2017 E
FBXO11     SSC02723chr2:
48040938-48040938
TAexonicDe novononsynonymous SNVNM_001190274
NM_025133
c.A2075T
c.A1823T
p.Y692F
p.Y608F
25.2-Lim2017 E
PSME4     SSC11394chr2:
54114533-54114533
GAexonicDe novononsynonymous SNVNM_014614c.C4592Tp.P1531L16.03-Lim2017 E
ERLEC1     SSC11341chr2:
54040122-54040122
AGexonicDe novononsynonymous SNVNM_001127398
NM_001127397
NM_015701
c.A976G
c.A1138G
c.A1138G
p.T326A
p.T380A
p.T380A
18.95-Lim2017 E
GEMIN6     G01-GEA-85-HIchr2:
39006443-39006443
GAintronicDe novo9.1290.0025Lim2017 E
GALM     SSC00057chr2:
38958886-38958886
TCexonicDe novosynonymous SNVNM_138801c.T786Cp.H262H-1.661E-5Lim2017 E
TMEM178A     SSC06613chr2:
39944209-39944209
CTexonicDe novononsynonymous SNVNM_001167959
NM_152390
c.C166T
c.C712T
p.R56W
p.R238W
18.64-Lim2017 E
MAP4K3     14343.p1chr2:
39536651-39536651
ACexonicDe novononsynonymous SNVNM_001270425
NM_003618
c.T1007G
c.T1007G
p.V336G
p.V336G
19.33-Lim2017 E
PELI1     Lim2017:78763chr2:
64322284-64322284
GAexonicDe novononsynonymous SNVNM_020651c.C809Tp.A270V18.26-Lim2017 E
CCT4     SSC00098chr2:
62115545-62115545
AGexonicDe novononsynonymous SNVNM_001256721
NM_006430
c.T98C
c.T98C
p.I33T
p.I33T
26.6-Lim2017 E
GMCL1     SSC09855chr2:
70106125-70106125
AGexonicDe novononsynonymous SNVNM_178439c.A1537Gp.K513E13.05-Lim2017 E
SERTAD2     Lim2017:37323chr2:
64863430-64863430
CTexonicDe novosynonymous SNVNM_014755c.G576Ap.A192A-3.299E-5Lim2017 E
RTN4     Lim2017:37039chr2:
55253033-55253033
TCexonicDe novosynonymous SNVNM_020532
NM_207521
c.A2202G
c.A1584G
p.L734L
p.L528L
--Lim2017 E
SPTBN1     Lim2017:36161chr2:
54858514-54858514
GCexonicDe novononsynonymous SNVNM_178313
NM_003128
c.G3291C
c.G3330C
p.E1097D
p.E1110D
18.12-Lim2017 E
XPO1     Lim2017:12052chr2:
61726859-61726859
ACexonicDe novononsynonymous SNVNM_003400c.T579Gp.H193Q16.75-Lim2017 E
HNRNPF     NP152chr10:
43882148-43882148
CTexonicDe novosynonymous SNVNM_001098208
NM_001098204
NM_001098205
NM_001098206
NM_001098207
NM_004966
c.G1185A
c.G1185A
c.G1185A
c.G1185A
c.G1185A
c.G1185A
p.Q395Q
p.Q395Q
p.Q395Q
p.Q395Q
p.Q395Q
p.Q395Q
-1.67E-5Lim2017 E
REL     SSC03262chr2:
61145360-61145360
TGexonicDe novosynonymous SNVNM_001291746
NM_002908
c.T570G
c.T570G
p.R190R
p.R190R
--Lim2017 E
SMYD1     Lim2017:68760chr2:
88409886-88409886
AGexonicDe novononsynonymous SNVNM_198274c.A1328Gp.Q443R24.6-Lim2017 E
RETSAT     SSC10904chr2:
85571833-85571833
CTexonicMosaicsynonymous SNVNM_017750c.G1140Ap.T380T1.6995.819E-5Lim2017 E
ANKRD36C     SSC05990chr2:
96610876-96610876
TCexonicMosaicnonsynonymous SNVNM_001310154c.A1409Gp.Q470R3.912-Lim2017 E
MIR4436A     Lim2017:35873chr2:
89185561-89185561
TAintergenicDe novo--Lim2017 E
C2orf42     SSC03349chr2:
70392261-70392261
TCexonicDe novononsynonymous SNVNM_017880c.A1316Gp.N439S12.73-Lim2017 E
C2orf42     SSC05321chr2:
70377544-70377544
GAexonicDe novononsynonymous SNVNM_017880c.C1669Tp.P557S12.868.256E-6Lim2017 E
TCF7L1     SSC02484chr2:
85529727-85529727
GTexonicDe novononsynonymous SNVNM_031283c.G646Tp.D216Y23.0-Lim2017 E
ALMS1     SSC08031chr2:
73681132-73681132
TGexonicDe novononsynonymous SNVNM_015120c.T7475Gp.L2492R17.75-Lim2017 E
BUB1     SSC12762chr2:
111406869-111406869
AGexonicDe novosynonymous SNVNM_001278616
NM_001278617
NM_004336
c.T2229C
c.T2289C
c.T2289C
p.N743N
p.N763N
p.N763N
-8.251E-6Lim2017 E
BUB1     5006_202chr2:
111398623-111398623
TCexonicDe novosynonymous SNVNM_001278616
NM_001278617
NM_004336
c.A2883G
c.A2772G
c.A2943G
p.P961P
p.P924P
p.P981P
-8.812E-6Lim2017 E
MYO7B     Lim2017:36081chr2:
128366324-128366324
CTexonicDe novosynonymous SNVNM_001080527c.C2685Tp.G895G-5.148E-5Lim2017 E
CLASP1     SSC03203chr2:
122154835-122154835
TCexonicDe novononsynonymous SNVNM_001142274
NM_001207051
NM_015282
NM_001142273
c.A2920G
c.A2938G
c.A3004G
c.A2944G
p.I974V
p.I980V
p.I1002V
p.I982V
18.72-Lim2017 E
TSGA10     DEASD_0231_001chr2:
99681512-99681512
GAexonicMosaicnonsynonymous SNVNM_182911
NM_025244
c.C1294T
c.C1294T
p.R432C
p.R432C
23.38.241E-6Lim2017 E
RASGRF1     G01-GEA-49-HIchr15:
79298659-79298659
CTexonicDe novosynonymous SNVNM_001145648
NM_002891
c.G1944A
c.G1983A
p.T648T
p.T661T
-3.296E-5Lim2017 E
SEMA4C     SSC02077chr2:
97529773-97529773
CTexonicDe novononsynonymous SNVNM_017789c.G1220Ap.R407Q11.22-Lim2017 E
RANBP2     SSC07699chr2:
109382819-109382819
ATexonicDe novononsynonymous SNVNM_006267c.A5824Tp.S1942C8.914-Lim2017 E
RFX8     SSC03560chr2:
102083246-102083246
ACexonicDe novononsynonymous SNVNM_001145664c.T65Gp.F22C16.45-Lim2017 E
POTEE     NDAR_INVTJ060WMN_wes1chr2:
132021818-132021818
GAexonicDe novosynonymous SNVNM_001083538c.G2790Ap.A930A-2.0E-4Lim2017 E
FAM168B     Lim2017:36814chr2:
131810589-131810589
CGsplicingDe novosplicing26.6-Lim2017 E
ZRANB3     Lim2017:68576chr2:
136072939-136072939
GAexonicDe novononsynonymous SNVNM_001286568
NM_032143
c.C839T
c.C839T
p.A280V
p.A280V
13.59-Lim2017 E
ZRANB3     Lim2017:36902chr2:
135982012-135982012
AGexonicDe novononsynonymous SNVNM_001286568
NM_032143
NM_001286569
c.T2228C
c.T2234C
c.T872C
p.I743T
p.I745T
p.I291T
22.2-Lim2017 E
MYO7B     Lim2017:78714chr2:
128384626-128384626
CTexonicDe novononsynonymous SNVNM_001080527c.C4214Tp.P1405L32.02.074E-5Lim2017 E
DGCR2     CC975.202chr22:
19028713-19028713
GAexonicDe novosynonymous SNVNM_001173533
NM_001173534
NM_001184781
NM_005137
c.C1131T
c.C1122T
c.C1245T
c.C1254T
p.D377D
p.D374D
p.D415D
p.D418D
-2.48E-5Lim2017 E
MYO7B     Lim2017:4899chr2:
128381815-128381815
CTexonicDe novononsynonymous SNVNM_001080527c.C3889Tp.R1297W14.423.892E-5Lim2017 E
ARHGEF4     SSC10777chr2:
131796442-131796442
GAexonicDe novononsynonymous SNVNM_032995
NM_015320
c.G584A
c.G584A
p.S195N
p.S195N
15.15-Lim2017 E
UGGT1     Lim2017:6263chr2:
128938561-128938561
GAexonicDe novononsynonymous SNVNM_020120c.G3998Ap.R1333H22.0-Lim2017 E
SCN2A     SSC03177chr2:
166201379-166201379
CAexonicDe novostopgainNM_001040143
NM_001040142
NM_021007
c.C2877A
c.C2877A
c.C2877A
p.C959X
p.C959X
p.C959X
42.0-Lim2017 E
SCN2A     SSC11033chr2:
166201311-166201311
CTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.C2809T
c.C2809T
c.C2809T
p.R937C
p.R937C
p.R937C
29.0-Lim2017 E
SCN2A     SSC08396chr2:
166231378-166231378
TCexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.T4156C
c.T4156C
c.T4156C
p.C1386R
p.C1386R
p.C1386R
15.44-Lim2017 E
SCN2A     SSC00344chr2:
166210819-166210819
GTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007
c.G3037T
c.G3037T
c.G3037T
p.G1013X
p.G1013X
p.G1013X
40.0-Lim2017 E
CD302     Lim2017:11943chr2:
160637506-160637506
GAexonicDe novononsynonymous SNVNM_001198764
NM_001198763
NM_014880
NM_001198760
NM_001198759
c.C71T
c.C182T
c.C182T
c.C4937T
c.C5105T
p.A24V
p.A61V
p.A61V
p.A1646V
p.A1702V
24.62.536E-5Lim2017 E
PRKCZ     G01-GEA-44-HIchr1:
2066753-2066753
CTexonicDe novosynonymous SNVNM_001242874
NM_002744
c.C75T
c.C387T
p.N25N
p.N129N
-2.502E-5Lim2017 E
NEB     SSC06883chr2:
152512435-152512435
TCexonicDe novononsynonymous SNVNM_001164507
NM_001164508
NM_001271208
NM_004543
c.A6598G
c.A6598G
c.A6598G
c.A6598G
p.S2200G
p.S2200G
p.S2200G
p.S2200G
22.9-Lim2017 E
SCN2A     Lim2017:36783chr2:
166152367-166152367
GAexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.G34A
c.G34A
c.G34A
p.D12N
p.D12N
p.D12N
13.34-Lim2017 E
IFIH1     SSC06323chr2:
163174408-163174408
TGexonicMosaicnonsynonymous SNVNM_022168c.A410Cp.K137T12.72-Lim2017 E
RAPGEF4     NDAR_INVWJ494BME_wes1chr2:
173787028-173787028
CTexonicMosaicsynonymous SNVNM_001100397
NM_001282899
NM_001282900
NM_007023
c.C105T
c.C78T
c.C78T
c.C537T
p.N35N
p.N26N
p.N26N
p.N179N
-3.313E-5Lim2017 E
GORASP2     SSC06166chr2:
171819397-171819397
TGexonicDe novononsynonymous SNVNM_001201428
NM_015530
c.T755G
c.T959G
p.L252R
p.L320R
20.9-Lim2017 E
MAP3K20     SSC09696chr2:
174096941-174096941
GAexonicDe novononsynonymous SNVNM_016653c.G1054Ap.V352I15.133.312E-5Lim2017 E
RAPGEF4     SSC09204chr2:
173885400-173885400
AGexonicDe novononsynonymous SNVNM_001282901
NM_001282900
NM_001100397
NM_001282899
NM_007023
c.A1550G
c.A1697G
c.A1778G
c.A1751G
c.A2210G
p.N517S
p.N566S
p.N593S
p.N584S
p.N737S
26.1-Lim2017 E
CERS6     SSC03560chr2:
169417831-169417831
AGexonicDe novononsynonymous SNVNM_001256126
NM_203463
c.A406G
c.A406G
p.M136V
p.M136V
4.5241.649E-5Lim2017 E
SCN1A     SSC04635chr2:
166848006-166848006
TCexonicDe novononsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435
c.A5779G
c.A5695G
c.A5746G
c.A5779G
p.R1927G
p.R1899G
p.R1916G
p.R1927G
14.33-Lim2017 E
LRP2     SSC06968chr2:
170042308-170042308
GAexonicDe novostopgainNM_004525c.C9550Tp.R3184X53.0-Lim2017 E
LRP2     SSC08168chr2:
170012798-170012798
CTexonicDe novononsynonymous SNVNM_004525c.G12137Ap.R4046Q8.986-Lim2017 E
TTN     Lim2017:70540chr2:
179486354-179486354
CGexonicDe novononsynonymous SNVNM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550
c.G18002C
c.G18377C
c.G18578C
c.G37493C
c.G40274C
c.G45197C
p.G6001A
p.G6126A
p.G6193A
p.G12498A
p.G13425A
p.G15066A
16.17-Lim2017 E
TTN     SSC03561chr2:
179452804-179452804
CTexonicDe novosynonymous SNVNM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550
c.G36135A
c.G36510A
c.G36711A
c.G55626A
c.G58407A
c.G63330A
p.A12045A
p.A12170A
p.A12237A
p.A18542A
p.A19469A
p.A21110A
-6.664E-5Lim2017 E
NCKAP1     SSC06366chr2:
183791570-183791570
CAexonicDe novostopgainNM_013436
NM_205842
c.G3244T
c.G3262T
p.E1082X
p.E1088X
48.0-Lim2017 E
TTN     SSC10846chr2:
179666976-179666976
GAexonicDe novononsynonymous SNVNM_001256850
NM_001267550
NM_003319
NM_133378
NM_133379
NM_133432
NM_133437
c.C184T
c.C184T
c.C184T
c.C184T
c.C184T
c.C184T
c.C184T
p.R62C
p.R62C
p.R62C
p.R62C
p.R62C
p.R62C
p.R62C
18.741.648E-5Lim2017 E
SP3     Lim2017:36791chr2:
174820528-174820528
CTexonicDe novononsynonymous SNVNM_001017371
NM_001172712
NM_003111
c.G508A
c.G703A
c.G712A
p.G170R
p.G235R
p.G238R
16.47-Lim2017 E
SP3     NDAR_INVEK534HR7_wes1chr2:
174777809-174777809
CTexonicDe novononsynonymous SNVNM_001017371
NM_001172712
NM_003111
c.G1814A
c.G2009A
c.G2018A
p.R605K
p.R670K
p.R673K
16.93-Lim2017 E
TTN     SSC06404chr2:
179447820-179447820
GTexonicDe novononsynonymous SNVNM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550
c.C38515A
c.C38890A
c.C39091A
c.C58006A
c.C60787A
c.C65710A
p.L12839I
p.L12964I
p.L13031I
p.L19336I
p.L20263I
p.L21904I
13.75-Lim2017 E
TTN     Lim2017:68695chr2:
179425280-179425280
CTexonicDe novononsynonymous SNVNM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550
c.G58384A
c.G58759A
c.G58960A
c.G77875A
c.G80656A
c.G85579A
p.G19462S
p.G19587S
p.G19654S
p.G25959S
p.G26886S
p.G28527S
17.06-Lim2017 E
ALS2     SSC02327chr2:
202571654-202571654
GAexonicDe novononsynonymous SNVNM_020919c.C4495Tp.R1499C22.44.15E-5Lim2017 E
TYW5     SSC06042chr2:
200797909-200797909
GAexonicDe novostopgainNM_001039693c.C829Tp.Q277X38.0-Lim2017 E
PARD3B     SSC09687chr2:
206480234-206480234
CGexonicDe novostopgainNM_057177
NM_152526
NM_205863
NM_001302769
c.C3108G
c.C3129G
c.C3012G
c.C3315G
p.Y1036X
p.Y1043X
p.Y1004X
p.Y1105X
36.0-Lim2017 E
NBEAL1     SSC04995chr2:
203972384-203972384
AGexonicDe novosynonymous SNVNM_001114132c.A1335Gp.Q445Q--Lim2017 E
DNAH7     SSC08767chr2:
196759791-196759791
CTexonicDe novononsynonymous SNVNM_018897c.G4805Ap.R1602H33.03.322E-5Lim2017 E
ZSWIM2     SSC10390chr2:
187694548-187694548
TCexonicDe novononsynonymous SNVNM_182521c.A1001Gp.N334S9.779-Lim2017 E
ERMP1     NP116chr9:
5805684-5805684
CTexonicDe novosynonymous SNVNM_024896c.G1650Ap.A550A-3.3E-5Lim2017 E
SF3B1     SSC10812chr2:
198274508-198274508
GTexonicDe novononsynonymous SNVNM_012433c.C890Ap.P297H28.1-Lim2017 E
HECW2     SSC03717chr2:
197106887-197106887
GAexonicDe novononsynonymous SNVNM_001304840
NM_020760
c.C2503T
c.C3571T
p.R835W
p.R1191W
18.67-Lim2017 E
FN1     SSC02989chr2:
216245617-216245617
CTexonicDe novononsynonymous SNVNM_002026
NM_212478
NM_001306129
NM_212482
c.G5078A
c.G5078A
c.G5351A
c.G5351A
p.R1693K
p.R1693K
p.R1784K
p.R1784K
16.17-Lim2017 E
IKZF2     Lim2017:68631chr2:
213886838-213886838
CGexonicDe novononsynonymous SNVNM_016260
NM_001079526
c.G591C
c.G513C
p.K197N
p.K171N
21.1-Lim2017 E
STK36     SSC10287chr2:
219562284-219562284
AGexonicDe novononsynonymous SNVNM_001243313
NM_015690
c.A2797G
c.A2860G
p.I933V
p.I954V
7.615-Lim2017 E
FN1     SSC08165chr2:
216251636-216251636
TGexonicDe novononsynonymous SNVNM_001306131
NM_001306132
NM_002026
NM_212474
NM_212476
NM_212478
NM_001306129
NM_001306130
NM_212482
c.A4115C
c.A4115C
c.A4115C
c.A4115C
c.A4115C
c.A4115C
c.A4388C
c.A4388C
c.A4388C
p.N1372T
p.N1372T
p.N1372T
p.N1372T
p.N1372T
p.N1372T
p.N1463T
p.N1463T
p.N1463T
12.02-Lim2017 E
UNC80     SSC04780chr2:
210745771-210745771
CTexonicDe novostopgainNM_032504
NM_182587
c.C4069T
c.C4054T
p.R1357X
p.R1352X
44.0-Lim2017 E
NRP2     SSC08761chr2:
206617656-206617656
CTexonicDe novosynonymous SNVNM_003872
NM_018534
NM_201266
NM_201267
NM_201279
c.C2001T
c.C2001T
c.C2001T
c.C2001T
c.C2001T
p.T667T
p.T667T
p.T667T
p.T667T
p.T667T
--Lim2017 E
ERBB4     Lim2017:36742chr2:
212522487-212522487
TCexonicDe novosynonymous SNVNM_001042599
NM_005235
c.A1938G
c.A1938G
p.Q646Q
p.Q646Q
--Lim2017 E
UNC80     SSC10614chr2:
210824419-210824419
ACexonicDe novononsynonymous SNVNM_032504
NM_182587
c.A7595C
c.A7580C
p.K2532T
p.K2527T
26.3-Lim2017 E
CUL3     Lim2017:5412chr2:
225376218-225376218
CAexonicDe novostopgainNM_001257197
NM_001257198
NM_003590
c.G538T
c.G754T
c.G736T
p.E180X
p.E252X
p.E246X
40.0-Lim2017 E
SPEG     08C77997chr2:
220354457-220354457
TGexonicDe novononsynonymous SNVNM_005876c.T8717Gp.F2906C8.679-Lim2017 E
SP110     SSC10053chr2:
231035373-231035373
CTexonicDe novononsynonymous SNVNM_004509
NM_080424
c.G1920A
c.G1992A
p.M640I
p.M664I
9.184-Lim2017 E
TRIP12     SSC06111chr2:
230701696-230701696
GAexonicDe novostopgainNM_001284216
NM_001284215
NM_004238
NM_001284214
c.C103T
c.C1012T
c.C1012T
c.C1138T
p.R35X
p.R338X
p.R338X
p.R380X
38.0-Lim2017 E
TUBA4A     SSC06742chr2:
220115548-220115548
GAexonicDe novosynonymous SNVNM_001278552
NM_006000
c.C828T
c.C873T
p.I276I
p.I291I
-8.237E-6Lim2017 E
RETREG2     Lim2017:68703chr2:
220045455-220045455
ATexonicDe novononsynonymous SNVNM_024293c.A619Tp.I207F26.2-Lim2017 E
SPEG     Lim2017:36903chr2:
220341659-220341659
GTexonicDe novosynonymous SNVNM_005876c.G4515Tp.A1505A--Lim2017 E
SPEG     G01-GEA-85-HIchr2:
220313785-220313785
GTexonicDe novosynonymous SNVNM_005876c.G1905Tp.A635A--Lim2017 E
OR6B3     NDAR_INVPZ331NAM_wes1chr2:
240984955-240984955
AGexonicDe novononsynonymous SNVNM_173351c.T535Cp.C179R15.272.0E-4Lim2017 E
LRRFIP1     Lim2017:36831chr2:
238617225-238617225
GAexonicDe novosynonymous SNVNM_001137550
NM_001137551
NM_001137552
NM_001137553
NM_004735
c.G135A
c.G105A
c.G105A
c.G105A
c.G105A
p.A45A
p.A35A
p.A35A
p.A35A
p.A35A
-2.894E-5Lim2017 E
PASK     DEASD_0314_001chr2:
242065977-242065977
GAexonicDe novostopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120
c.C2353T
c.C2248T
c.C2353T
c.C2353T
c.C2353T
p.Q785X
p.Q750X
p.Q785X
p.Q785X
p.Q785X
43.0-Lim2017 E
MTERF4     SSC09403chr2:
242035720-242035720
TAexonicDe novononsynonymous SNVNM_182501c.A839Tp.K280M17.22-Lim2017 E
GIGYF2     Lim2017:36806chr2:
233675982-233675982
CTexonicDe novostopgainNM_001103148
NM_001103146
NM_001103147
NM_015575
c.C1909T
c.C1927T
c.C1990T
c.C1927T
p.Q637X
p.Q643X
p.Q664X
p.Q643X
37.0-Lim2017 E
ALPPL2     NP170chr2:
233274543-233274543
ACexonicDe novosynonymous SNVNM_031313c.A1560Cp.A520A-1.74E-5Lim2017 E
AGAP1     SSC02254chr2:
237029030-237029030
GAexonicDe novononsynonymous SNVNM_014914
NM_001037131
c.G2150A
c.G2309A
p.R717H
p.R770H
35.01.729E-5Lim2017 E
UGT1A1     Lim2017:37087chr2:
234676519-234676519
CTexonicDe novostopgainNM_000463
NM_001072
NM_007120
NM_019075
NM_019076
NM_019077
NM_019078
NM_019093
NM_021027
NM_205862
c.C1021T
c.C1018T
c.C1024T
c.C1012T
c.C1012T
c.C1012T
c.C1024T
c.C1024T
c.C1012T
c.C217T
p.R341X
p.R340X
p.R342X
p.R338X
p.R338X
p.R338X
p.R342X
p.R342X
p.R338X
p.R73X
23.62.471E-5Lim2017 E
SLC6A1     SSC10931chr3:
11076337-11076337
GAexonicDe novononsynonymous SNVNM_003042c.G1648Ap.G550R15.95-Lim2017 E
SLC6A1     SSC09465chr3:
11067472-11067472
CTexonicDe novononsynonymous SNVNM_003042c.C863Tp.A288V29.7-Lim2017 E
PPARG     G01-GEA-110-HIchr3:
12434199-12434199
AGexonicDe novosynonymous SNVNM_005037
NM_015869
NM_138711
NM_138712
c.A483G
c.A567G
c.A483G
c.A483G
p.K161K
p.K189K
p.K161K
p.K161K
--Lim2017 E
HRH1     SSC02441chr3:
11300939-11300939
GAexonicDe novosynonymous SNVNM_001098211
NM_001098212
NM_001098213
NM_000861
c.G216A
c.G216A
c.G216A
c.G216A
p.A72A
p.A72A
p.A72A
p.A72A
-8.247E-6Lim2017 E
GRM7     SSC02938chr3:
7620458-7620458
GAexonicDe novononsynonymous SNVNM_000844
NM_181874
c.G1865A
c.G1865A
p.R622Q
p.R622Q
24.58.238E-6Lim2017 E
ING5     10C109819chr2:
242662631-242662631
AGexonicDe novononsynonymous SNVNM_032329c.A625Gp.I209V22.42.471E-5Lim2017 E
TATDN2       Lim2017:6300chr3:
10302080-10302080
CGexonicDe novononsynonymous SNVNM_014760c.C674Gp.A225G11.218.255E-6Lim2017 E
BRPF1     SSC00075chr3:
9781299-9781299
TCexonicDe novononsynonymous SNVNM_001003694
NM_004634
c.T1216C
c.T1216C
p.Y406H
p.Y406H
13.13-Lim2017 E
KCNH8     Lim2017:68607chr3:
19554533-19554533
GAexonicDe novosynonymous SNVNM_144633c.G2151Ap.E717E--Lim2017 E
KCNH8     Lim2017:70425chr3:
19491606-19491606
CTexonicDe novononsynonymous SNVNM_144633c.C1384Tp.H462Y24.6-Lim2017 E
GOLGA4     SSC04693chr3:
37369172-37369172
TCexonicDe novononsynonymous SNVNM_002078
NM_001172713
c.T5795C
c.T5861C
p.L1932S
p.L1954S
15.83-Lim2017 E
ZNF860     SSC07586chr3:
32030783-32030783
TCexonicDe novononsynonymous SNVNM_001137674c.T212Cp.M71T0.856-Lim2017 E
NUP210     SSC05882chr3:
13367336-13367336
CAexonicDe novononsynonymous SNVNM_024923c.G4603Tp.V1535F9.885-Lim2017 E
TSEN2     SSC06956chr3:
12570418-12570418
TCexonicDe novosynonymous SNVNM_001145393
NM_001145395
NM_001145392
NM_025265
NM_001145394
c.T1053C
c.T1053C
c.T1131C
c.T1131C
c.T954C
p.H351H
p.H351H
p.H377H
p.H377H
p.H318H
--Lim2017 E
SATB1     NP119chr3:
18436215-18436215
TCexonicDe novosynonymous SNVNM_001131010
NM_001195470
NM_002971
c.A945G
c.A945G
c.A945G
p.Q315Q
p.Q315Q
p.Q315Q
-1.647E-5Lim2017 E
CHDH     NP152chr3:
53857760-53857760
CTexonicDe novosynonymous SNVNM_018397c.G276Ap.A92A-5.903E-5Lim2017 E
C3orf20     Lim2017:31746chr3:
14768527-14768527
CTexonicDe novosynonymous SNVNM_001184957
NM_001184958
NM_032137
c.C1320T
c.C1320T
c.C1686T
p.A440A
p.A440A
p.A562A
-2.472E-5Lim2017 E
CTNNB1     SSC04950chr3:
41275346-41275346
GAexonicDe novostopgainNM_001098209
NM_001098210
NM_001904
c.G1512A
c.G1512A
c.G1512A
p.W504X
p.W504X
p.W504X
42.0-Lim2017 E
SPTAN1     80001102148chr9:
131395574-131395574
CTexonicDe novosynonymous SNVNM_001195532
NM_003127
NM_001130438
c.C7320T
c.C7380T
c.C7395T
p.F2440F
p.F2460F
p.F2465F
-6.61E-5Lim2017 E
ZNF620     SSC02395chr3:
40553954-40553954
CAexonicDe novosynonymous SNVNM_175888c.C213Ap.G71G--Lim2017 E
ZNF662     SSC00240chr3:
42956561-42956561
CTexonicDe novosynonymous SNVNM_001134656
NM_207404
c.C1074T
c.C996T
p.Y358Y
p.Y332Y
-4.121E-5Lim2017 E
SEC22C     SSC00624chr3:
42610365-42610365
AGexonicDe novosynonymous SNVNM_001201572
NM_001201584
NM_004206
NM_032970
c.T174C
c.T174C
c.T174C
c.T174C
p.F58F
p.F58F
p.F58F
p.F58F
--Lim2017 E
SCN10A     SSC09154chr3:
38770255-38770255
CTexonicDe novosynonymous SNVNM_001293307
NM_001293306
NM_006514
c.G2124A
c.G2418A
c.G2418A
p.K708K
p.K806K
p.K806K
--Lim2017 E
EXOG     SSC07932chr3:
38537991-38537991
GTexonicMosaicstopgainNM_001145464
NM_005107
c.G133T
c.G133T
p.E45X
p.E45X
37.0-Lim2017 E
TTC21A     SSC06038chr3:
39170415-39170415
GCexonicDe novononsynonymous SNVNM_001105513
NM_145755
c.G1765C
c.G1909C
p.G589R
p.G637R
28.0-Lim2017 E
SCN11A     SSC04895chr3:
38892193-38892193
TGexonicDe novononsynonymous SNVNM_014139
NM_001287223
c.A4106C
c.A4106C
p.D1369A
p.D1369A
21.7-Lim2017 E
SETD2     Lim2017:37403chr3:
47166005-47166005
TAexonicDe novononsynonymous SNVNM_014159c.A121Tp.I41F11.88-Lim2017 E
NBEAL2     SSC00403chr3:
47049651-47049651
TGexonicDe novononsynonymous SNVNM_015175c.T7694Gp.L2565R23.2-Lim2017 E
PLXNB1     SSC05224chr3:
48457121-48457121
CAexonicDe novononsynonymous SNVNM_001130082
NM_002673
c.G3665T
c.G3665T
p.R1222L
p.R1222L
8.546-Lim2017 E
MAP4     Lim2017:4890chr3:
47969769-47969769
CAexonicDe novononsynonymous SNVNM_001134364
NM_002375
c.G364T
c.G364T
p.D122Y
p.D122Y
13.89-Lim2017 E
CXCR6     Lim2017:36129chr3:
45988924-45988924
AGexonicDe novosynonymous SNVNM_006564c.A951Gp.Q317Q-2.471E-5Lim2017 E
ZNF445     SSC05973chr3:
44488908-44488908
GAexonicDe novononsynonymous SNVNM_181489c.C2255Tp.P752L15.78-Lim2017 E
TMIE     1255JS0001chr3:
46751073-46751073
TGexonicDe novononsynonymous SNVNM_147196c.T366Gp.D122E13.927.815E-5Lim2017 E
CCR3