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Results for "Wilfert2021"

Variant Events: 1918

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-Wilfert2021 G
ABCB1     12189.p1chr7:
87145975-87145975		AGexonicDe novosynonymous SNVNM_000927c.T2934Cp.F978F--Wilfert2021 G
ZNF804B     14394.p1chr7:
88389394-88389394		CTexonicDe novononsynonymous SNVNM_181646c.C104Tp.S35F19.94-Wilfert2021 G
AKAP9     14474.p1chr7:
91726153-91726153		CTexonicDe novostopgainNM_005751
NM_147185		c.C9880T
c.C9856T		p.R3294X
p.R3286X		52.01.648E-5Wilfert2021 G
TRRAP     12320.p1chr7:
98550922-98550922		CTexonicDe novononsynonymous SNVNM_003496
NM_001244580		c.C5521T
c.C5575T		p.R1841C
p.R1859C		23.2-Wilfert2021 G
TRRAP     14463.p1chr7:
98609859-98609859		CTexonicDe novononsynonymous SNVNM_003496
NM_001244580		c.C11374T
c.C11461T		p.R3792C
p.R3821C		33.0-Wilfert2021 G
CYP3A43     13236.p1chr7:
99457566-99457566		GAexonicDe novononsynonymous SNVNM_001278921
NM_022820
NM_057095
NM_057096		c.G649A
c.G979A
c.G979A
c.G979A		p.V217I
p.V327I
p.V327I
p.V327I		7.782-Wilfert2021 G
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-6Wilfert2021 G
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-5Wilfert2021 G
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-5Wilfert2021 G
LRCH4     11502.p1chr7:
100183600-100183600		CTexonicDe novononsynonymous SNVNM_001289934
NM_002319		c.G124A
c.G124A		p.V42M
p.V42M		22.5-Wilfert2021 G
GIGYF1     11232.p1chr7:
100283002-100283019		TCCCCATCCCCGTTTGTCTexonicDe novoframeshift deletionNM_022574c.1140_1156delp.G380fs--Wilfert2021 G
SLC12A9     14539.p1chr7:
100460363-100460363		GAexonicDe novononsynonymous SNVNM_001267814
NM_001267812
NM_020246		c.G1505A
c.G1772A
c.G1772A		p.R502H
p.R591H
p.R591H		9.3738.237E-6Wilfert2021 G
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-Wilfert2021 G
PLOD3     11782.p1chr7:
100856461-100856461		CTexonicDe novononsynonymous SNVNM_001084c.G704Ap.R235Q6.1473.374E-5Wilfert2021 G
SLC26A5     11336.p1chr7:
103014942-103014942		GCexonicDe novononsynonymous SNVNM_001167962
NM_198999		c.C2043G
c.C2139G		p.S681R
p.S713R		11.38-Wilfert2021 G
PUS7     13641.p1chr7:
105108895-105108895		GAexonicDe novononsynonymous SNVNM_019042c.C1414Tp.R472C21.2-Wilfert2021 G
LAMB1     13991.p1chr7:
107566657-107566657		CTexonicDe novononsynonymous SNVNM_002291c.G5035Ap.V1679M14.78-Wilfert2021 G
DOCK4     11099.p1chr7:
111398732-111398732		CTexonicDe novononsynonymous SNVNM_014705c.G4250Ap.R1417H17.14.186E-5Wilfert2021 G
CTTNBP2     13918.p1chr7:
117652220-117652220		GGAintergenicDe novo--Wilfert2021 G
PTPRZ1     13971.p1chr7:
121624123-121624123		AGexonicDe novononsynonymous SNVNM_001206838
NM_001206839
NM_002851		c.A880G
c.A880G
c.A880G		p.R294G
p.R294G
p.R294G		9.873-Wilfert2021 G
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-Wilfert2021 G
NDUFA5     12031.p1chr7:
123197382-123197382		CGintronicDe novo7.626-Wilfert2021 G
TNPO3     11169.p1chr7:
128622321-128622321		GAexonicDe novononsynonymous SNVNM_001191028
NM_012470		c.C1648T
c.C1840T		p.R550C
p.R614C		20.38.248E-6Wilfert2021 G
STRIP2     14652.p1chr7:
129094327-129094327		GAexonicDe novononsynonymous SNVNM_001134336
NM_020704		c.G665A
c.G665A		p.C222Y
p.C222Y		14.67-Wilfert2021 G
KLHDC10     11838.p1chr7:
129767258-129767258		CTexonicDe novostopgainNM_014997c.C946Tp.R316X37.0-Wilfert2021 G
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-Wilfert2021 G
AGK     13843.p1chr7:
141321569-141321569		GAexonicDe novononsynonymous SNVNM_018238c.G556Ap.E186K20.4-Wilfert2021 G
EPHB6     12681.p1chr7:
142564780-142564780		CTexonicDe novosynonymous SNVNM_001280795
NM_004445
NM_001280794		c.C828T
c.C1704T
c.C828T		p.H276H
p.H568H
p.H276H		-8.323E-6Wilfert2021 G
TRPV5     12839.p1chr7:
142612052-142612052		TGexonicDe novononsynonymous SNVNM_019841c.A1451Cp.K484T26.0-Wilfert2021 G
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-Wilfert2021 G
NOBOX     11839.p1chr7:
144094582-144094582		CTexonicDe novosynonymous SNVNM_001080413c.G1827Ap.P609P--Wilfert2021 G
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-Wilfert2021 G
TPK1     13063.p1chr7:
144150703-144150703		CTexonicDe novononsynonymous SNVNM_001042482
NM_022445		c.G520A
c.G667A		p.G174R
p.G223R		29.75.769E-5Wilfert2021 G
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-Wilfert2021 G
ZNF786     13279.p1chr7:
148777718-148777718		AGexonicDe novononsynonymous SNVNM_152411c.T110Cp.V37A13.88-Wilfert2021 G
KRBA1     11773.p1chr7:
149420891-149420891		CGexonicDe novounknown13.1-Wilfert2021 G
CFAP74     13013.p1chr1:
1911859-1911859		CTintronicPaternal--Wilfert2021 G
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-Wilfert2021 G
AGRN     13143.p1chr1:
989900-989900		GAexonicDe novosynonymous SNVNM_198576c.G5949Ap.T1983T--Wilfert2021 G
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-Wilfert2021 G
KMT2C     12742.p1chr7:
151845714-151845714		GAexonicDe novononsynonymous SNVNM_170606c.C13298Tp.A4433V20.1-Wilfert2021 G
KAZN     11063.p1chr1:
15392255-15392256		GCGexonicDe novoframeshift deletionNM_001017999
NM_001018000
NM_001018001
NM_015209		c.947delC
c.1211delC
c.947delC
c.1229delC		p.A316fs
p.A404fs
p.A316fs
p.A410fs		--Wilfert2021 G
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-5Wilfert2021 G
TNFRSF8     14441.p1chr1:
12218613-12218613		CTintergenicDe novo--Wilfert2021 G
UBE3C     11006.p1chr7:
157041114-157041114		CTexonicDe novononsynonymous SNVNM_014671c.C2534Tp.S845F21.28.237E-6Wilfert2021 G
MUL1     14416.p1chr1:
20864715-20864715		ACintergenicPaternal--Wilfert2021 G
ACTL8     13637.p1chr1:
18374912-18374912		CTintergenicDe novo--Wilfert2021 G
TTC34     13825.p1chr1:
2720467-2720467		CAintergenicDe novo--Wilfert2021 G
PRKCZ     13143.p1chr1:
2058479-2058479		CTintronicDe novo--Wilfert2021 G
CSMD1     12906.p1chr8:
2965314-2965314		TCexonicDe novononsynonymous SNVNM_033225c.A6761Gp.Q2254R1.421-Wilfert2021 G
CASZ1     14465.p1chr1:
10798964-10798964		CTintronicDe novo--Wilfert2021 G
CASZ1     11604.p1chr1:
10711096-10711097		CGCexonicDe novoframeshift deletionNM_001079843
NM_017766		c.2717delC
c.2717delC		p.P906fs
p.P906fs		--Wilfert2021 G
CSMD1     14695.p1chr8:
3046533-3046533		ATexonicDe novononsynonymous SNVNM_033225c.T5399Ap.V1800E16.27-Wilfert2021 G
CSMD1     14165.p1chr8:
3165969-3165969		GAexonicDe novononsynonymous SNVNM_033225c.C3688Tp.R1230C15.04-Wilfert2021 G
14316.p1chr1:
30992575-30992582		AGAAGATGGGAGGATTintergenicPaternal--Wilfert2021 G
STMN1     12832.p1chr1:
26234201-26234201		TGupstreamDe novo--Wilfert2021 G
AGO3     13133.p1chr1:
36448314-36448314		GTintronicDe novo--Wilfert2021 G
PHC2     14547.p1chr1:
33858459-33858459		GAintergenicDe novo--Wilfert2021 G
ID3     11464.p1chr1:
23886839-23886839		GGCupstreamMaternal--Wilfert2021 G
TNKS     11569.p1chr8:
9567684-9567684		GCexonicDe novononsynonymous SNVNM_003747c.G1703Cp.R568T18.48-Wilfert2021 G
HSPG2     12763.p1chr1:
22263991-22263991		CGupstreamDe novo--Wilfert2021 G
LDLRAP1     13143.p1chr1:
25898899-25898899		CTintergenicDe novo--Wilfert2021 G
XKR6     11415.p1chr8:
10755512-10755512		GAexonicDe novostopgainNM_173683c.C1876Tp.R626X24.3-Wilfert2021 G
MYOM3     13143.p1chr1:
24382501-24382501		TCdownstreamDe novo--Wilfert2021 G
MTMR9     12534.p1chr8:
11172535-11172535		CAexonicDe novononsynonymous SNVNM_015458c.C1075Ap.R359S16.461.648E-5Wilfert2021 G
ATG4C     13043.p1chr1:
63370518-63370519		CTCintergenicDe novo--Wilfert2021 G
NFIA     13043.p1chr1:
61567399-61567400		ATAintronicDe novo--Wilfert2021 G
BLK     11845.p1chr8:
11415531-11415531		TCexonicDe novononsynonymous SNVNM_001715c.T1013Cp.I338T17.594.944E-5Wilfert2021 G
ROR1     12113.p1chr1:
64384525-64384525		GTintronicDe novo--Wilfert2021 G
ATG4C     11835.p1chr1:
63408953-63408953		TCintergenicDe novo--Wilfert2021 G
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-4Wilfert2021 G
RNF220     11526.p1chr1:
45025136-45025136		ACintronicDe novo--Wilfert2021 G
HIVEP3     13028.p1chr1:
42118663-42118663		TCintronicDe novo--Wilfert2021 G
SPATA6     13143.p1chr1:
48867296-48867296		CGintronicDe novo--Wilfert2021 G
UQCRH     13143.p1chr1:
46800321-46800321		ACintergenicDe novo--Wilfert2021 G
LOC100129620    14224.p1chr1:
99601894-99601894		CTncRNA_intronicDe novo--Wilfert2021 G
PSD3     11842.p1chr8:
18730164-18730165		TCTexonicDe novoframeshift deletionNM_015310c.209delGp.G70fs--Wilfert2021 G
RPAP2     14091.p1chr1:
92907418-92907418		GCintergenicDe novo--Wilfert2021 G
ZNF697     13673.p1chr1:
120166582-120166582		CCCGGTTCTCCCCAGCACTCTexonicDe novoframeshift insertionNM_001080470c.383_384insAGAGTGCTGGGGAGAACCGp.R128fs--Wilfert2021 G
TBX15     11225.p1chr1:
119499045-119499046		ACTAintronicMaternal--Wilfert2021 G
BMP1     11989.p1chr8:
22067161-22067161		GAexonicDe novononsynonymous SNVNM_006129c.G2779Ap.G927S32.08.254E-6Wilfert2021 G
LINC01360     13952.p1chr1:
74464134-74464134		GCintergenicDe novo--Wilfert2021 G
DNAJC6     11501.p1chr1:
65866790-65866790		GAintronicDe novo--Wilfert2021 G
CYR61     11729.p1chr1:
86102343-86102343		CTintergenicDe novo--Wilfert2021 G
CCAR2     13300.p1chr8:
22463609-22463609		AGexonicDe novononsynonymous SNVNM_021174c.A70Gp.T24A14.844.943E-5Wilfert2021 G
LOC101927434    13143.p1chr1:
81988589-81988589		GTncRNA_intronicDe novo--Wilfert2021 G
EGR3     14049.p1chr8:
22550356-22550356		GAexonicDe novosynonymous SNVNM_004430c.C102Tp.N34N--Wilfert2021 G
POU2F1     14263.p1chr1:
167237318-167237318		CGintronicDe novo--Wilfert2021 G
OLFML2B     11818.p1chr1:
161973172-161973172		GAintronicDe novo--Wilfert2021 G
ASTN1     11544.p1chr1:
177046214-177046214		TCintronicDe novo--Wilfert2021 G
TNFSF4     13143.p1chr1:
173154931-173154931		TGUTR3De novo--Wilfert2021 G
OTUD7B     12150.p1chr1:
149943132-149943132		GTexonicDe novononsynonymous SNVNM_020205c.C133Ap.R45S24.9-Wilfert2021 G
BCL9     12637.p1chr1:
147012822-147012822		CAupstreamDe novo--Wilfert2021 G
FCGR2A     13825.p1chr1:
161479312-161479312		CAintronicDe novo--Wilfert2021 G
KCNN3     11573.p1chr1:
154715328-154715328		GAintronicDe novo--Wilfert2021 G
CAPN2     13486.p1chr1:
223895759-223895761		GTCTTTintronicDe novo--Wilfert2021 G
SUSD4     11729.p1chr1:
223556652-223556652		TCintergenicDe novo--Wilfert2021 G
KCNU1     14670.p1chr8:
36793231-36793231		TCexonicDe novosynonymous SNVNM_001031836c.T3243Cp.V1081V--Wilfert2021 G
OBSCN     12929.p1chr1:
228553400-228553400		CTintronicDe novo--Wilfert2021 G
CNIH3     14541.p1chr1:
224935393-224935393		TGintergenicDe novo--Wilfert2021 G
IPO9-AS1     12061.p1chr1:
201673704-201673704		GAncRNA_intronicDe novo--Wilfert2021 G
IDO2     13204.p1chr8:
39872850-39872850		GAexonicDe novononsynonymous SNVNM_194294c.G992Ap.R331K10.72-Wilfert2021 G
C1orf21     11152.p1chr1:
184539555-184539556		GCTTintronicDe novo--Wilfert2021 G
KAT6A     12108.p1chr8:
41906209-41906213		TTTTGTexonicDe novoframeshift deletionNM_001305878
NM_006766		c.283_286del
c.283_286del		p.Q95fs
p.Q95fs		--Wilfert2021 G
PLXNA2     13037.p1chr1:
209059183-209059183		TGintergenicDe novo--Wilfert2021 G
PLEKHA6     11615.p1chr1:
204329288-204329288		CAupstreamDe novo--Wilfert2021 G
LOC101928272   13143.p1chr10:
9571531-9571531		GAintergenicDe novo--Wilfert2021 G
SPIDR     13766.p1chr8:
48206532-48206532		CTexonicDe novosynonymous SNVNM_001282916
NM_001080394
NM_001282919		c.C228T
c.C438T
c.C258T		p.D76D
p.D146D
p.D86D		--Wilfert2021 G
PRKDC     12266.p1chr8:
48827944-48827944		CAexonicDe novounknown17.63-Wilfert2021 G
PFKFB3     13437.p1chr10:
6229912-6229912		TTTCTATCTATCTATCTAintronicDe novo--Wilfert2021 G
PRKDC     11839.p1chr8:
48849076-48849076		GAexonicDe novounknown20.24.15E-5Wilfert2021 G
GPR158     13825.p1chr10:
25594566-25594566		CTintronicDe novo--Wilfert2021 G
SEPHS1     12497.p1chr10:
13390593-13390595		CAACupstreamDe novo--Wilfert2021 G
PRKDC     13451.p1chr8:
48852146-48852146		AGexonicDe novounknown21.0-Wilfert2021 G
LINC00200     14587.p1chr10:
1205763-1205763		GTncRNA_exonicPaternal--Wilfert2021 G
LINC01139     13143.p1chr1:
239763335-239763338		CCTTCintergenicDe novo--Wilfert2021 G
PXDNL     11841.p1chr8:
52320634-52320634		GAexonicDe novosynonymous SNVNM_144651c.C3550Tp.L1184L--Wilfert2021 G
LOC101927964    13825.p1chr10:
4110160-4110160		CTncRNA_intronicDe novo--Wilfert2021 G
KLF6     13825.p1chr10:
3941894-3941894		ACintergenicDe novo--Wilfert2021 G
TLX1NB     14228.p1chr10:
102890914-102890914		GAncRNA_intronicDe novo--Wilfert2021 G
RAB2A     11077.p1chr8:
61484622-61484622		CTexonicDe novostopgainNM_001242644
NM_002865		c.C64T
c.C136T		p.R22X
p.R46X		28.2-Wilfert2021 G
RBP4     12313.p1chr10:
95365036-95365042		AAATGATAintergenicDe novo--Wilfert2021 G
LOC103344931    11679.p1chr10:
114619254-114619254		CAintergenicDe novo--Wilfert2021 G
CHD7     13733.p1chr8:
61735090-61735090		GAexonicDe novononsynonymous SNVNM_017780c.G2986Ap.G996S33.0-Wilfert2021 G
LINC01435     13486.p1chr10:
110513491-110513491		TCintergenicDe novo--Wilfert2021 G
HK1     13760.p1chr10:
71077992-71077992		GAintronicDe novo--Wilfert2021 G
APBB1IP     12598.p1chr10:
26842859-26842859		ATintronicDe novo--Wilfert2021 G
BTAF1     11025.p1chr10:
93723820-93723851		AACTGATCTTATAGGTGCCCTTCATTATAAATAexonicDe novononframeshift deletionNM_003972c.1405_1422delp.469_474del--Wilfert2021 G
MMRN2     12134.p1chr10:
88705569-88705569		CTintronicDe novo--Wilfert2021 G
LINC01163     13396.p1chr10:
130366962-130366962		AGintergenicDe novo--Wilfert2021 G
LINC01163     13462.p1chr10:
130114415-130114415		TAncRNA_intronicDe novo--Wilfert2021 G
LINC01163     11257.p1chr10:
130367701-130367701		GAintergenicDe novo--Wilfert2021 G
LRRCC1     14385.p1chr8:
86037085-86037085		GAexonicDe novononsynonymous SNVNM_033402c.G1183Ap.A395T6.733-Wilfert2021 G
CA3     11495.p1chr8:
86356323-86356323		GAexonicDe novononsynonymous SNVNM_005181c.G412Ap.D138N27.33.309E-5Wilfert2021 G
LINC01163     12975.p1chr10:
130367682-130367682		TCintergenicDe novo--Wilfert2021 G
FAM53B-AS1   13915.p1chr10:
126399930-126399933		GGGAAGGTncRNA_intronicMaternal--Wilfert2021 G
BUB3     13825.p1chr10:
125382165-125382165		TGintergenicDe novo--Wilfert2021 G
DCAF4L2     14563.p1chr8:
88885654-88885654		GCexonicDe novononsynonymous SNVNM_152418c.C546Gp.I182M12.45-Wilfert2021 G
FOXI2     13825.p1chr10:
129585839-129585839		GAintergenicDe novo--Wilfert2021 G
C10orf90     14093.p1chr10:
128446837-128446837		CCTintergenicDe novo--Wilfert2021 G
RHOG     11954.p1chr11:
3862947-3862947		GAupstreamDe novo--Wilfert2021 G
ESRP1     14073.p1chr8:
95680394-95680394		ACexonicDe novosynonymous SNVNM_001034915
NM_001122825
NM_001122826
NM_001122827
NM_017697		c.A1149C
c.A1149C
c.A1149C
c.A1149C
c.A1149C		p.A383A
p.A383A
p.A383A
p.A383A
p.A383A		9.043-Wilfert2021 G
ADAM8     11251.p1chr10:
135085034-135085034		CCGexonicDe novoframeshift insertionNM_001164490
NM_001109
NM_001164489		c.1164dupC
c.1281dupC
c.1281dupC		p.E389fs
p.E428fs
p.E428fs		-1.0E-4Wilfert2021 G
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-Wilfert2021 G
NAV2     13948.p1chr11:
19572788-19572788		GAintronicDe novo--Wilfert2021 G
FBXO43     12180.p1chr8:
101153250-101153250		GCexonicDe novononsynonymous SNVNM_001029860c.C1232Gp.A411G0.841-Wilfert2021 G
LOC102724784   14093.p1chr11:
8797684-8797688		CACGTCncRNA_intronicMaternal--Wilfert2021 G
GLRX3     13825.p1chr10:
132418892-132418892		GAintergenicDe novo--Wilfert2021 G
LINC01163     13780.p1chr10:
130996254-130996254		GAintergenicDe novo--Wilfert2021 G
STK32C     11377.p1chr10:
134027769-134027769		TTGGGGGTGintronicMaternal--Wilfert2021 G
RIMS2     12086.p1chr8:
104778570-104778570		GAexonicDe novononsynonymous SNVNM_001100117c.G503Ap.R168Q14.18.285E-6Wilfert2021 G
ZNF462     13842.p1chr9:
109691619-109691619		CTexonicDe novononsynonymous SNVNM_021224c.C5426Tp.A1809V13.271.657E-5Wilfert2021 G
TCERG1L     13143.p1chr10:
132890047-132890047		CTdownstreamDe novo--Wilfert2021 G
PHF21A     13143.p1chr11:
45999278-45999278		GCintronicDe novo--Wilfert2021 G
NUDCD1     13306.p1chr8:
110255473-110255473		GAexonicDe novononsynonymous SNVNM_001128211
NM_032869		c.C1430T
c.C1517T		p.S477L
p.S506L		34.02.475E-5Wilfert2021 G
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-Wilfert2021 G
TSPAN18     12671.p1chr11:
44849883-44849883		AGintronicDe novo--Wilfert2021 G
LOC100506127    13853.p1chr11:
76114889-76114889		CTexonicDe novostopgainNM_001282456c.C568Tp.Q190X17.63-Wilfert2021 G
KMT5B     12859.p1chr11:
67933707-67933707		GAUTR3De novo--Wilfert2021 G
DCDC1     11729.p1chr11:
31302563-31302563		GTintronicDe novo--Wilfert2021 G
NELL1     13606.p1chr11:
21883790-21883794		CTTACTTTATintergenicMaternal--Wilfert2021 G
TBC1D31     13975.p1chr8:
124140567-124140567		GCexonicDe novononsynonymous SNVNM_001145088
NM_145647		c.G1931C
c.G1931C		p.R644T
p.R644T		11.91-Wilfert2021 G
LOC100507205   13143.p1chr11:
42872374-42872374		CTintergenicDe novo--Wilfert2021 G
ABTB2     13143.p1chr11:
34328927-34328927		CTintronicDe novo--Wilfert2021 G
KIRREL3     11729.p1chr11:
126352514-126352514		GAintronicDe novo--Wilfert2021 G
TG     11544.p1chr8:
133935689-133935689		CTexonicDe novosynonymous SNVNM_003235c.C4635Tp.D1545D0.0168.243E-6Wilfert2021 G
CLMP     12716.p1chr11:
123008376-123008376		ATintronicDe novo--Wilfert2021 G
NTM     14621.p1chr11:
131475780-131475780		TGintronicDe novo--Wilfert2021 G
LOC101929497    14101.p1chr11:
127153028-127153028		GAncRNA_intronicDe novo--Wilfert2021 G
CARD18     13143.p1chr11:
105011784-105011784		CCAintergenicDe novo--Wilfert2021 G
MROH5     12622.p1chr8:
142458137-142458137		CTexonicDe novounknown-9.636E-6Wilfert2021 G
13143.p1chr11:
104155245-104155245		CGintergenicDe novo--Wilfert2021 G
BSX     11729.p1chr11:
122874190-122874190		GAintergenicDe novo--Wilfert2021 G
TSNARE1     13557.p1chr8:
143356191-143356191		GAexonicDe novononsynonymous SNVNM_001291931
NM_145003		c.C740T
c.C1397T		p.S247L
p.S466L		9.587-Wilfert2021 G
TSNARE1     11411.p1chr8:
143425725-143425725		GCexonicDe novononsynonymous SNVNM_145003c.C347Gp.P116R8.317-Wilfert2021 G
GRIK4     13825.p1chr11:
120674783-120674783		TCintronicDe novo--Wilfert2021 G
LMNTD1     14131.p1chr12:
25735355-25735355		CTintronicDe novo--Wilfert2021 G
SLCO1A2     13143.p1chr12:
21435425-21435425		TTGintronicDe novo--Wilfert2021 G
ADGRB1     13634.p1chr8:
143605599-143605599		CGexonicDe novostopgainNM_001702c.C3246Gp.Y1082X42.0-Wilfert2021 G
AQP5     12597.p1chr12:
50359773-50359773		TCdownstreamDe novo--Wilfert2021 G
GXYLT1     11946.p1chr12:
42538974-42538974		TCupstreamDe novo--Wilfert2021 G
SLC2A14     14416.p1chr12:
7996557-7996562		GTCTTTGintronicPaternal--Wilfert2021 G
PTMS     11257.p1chr12:
6876673-6876673		CTintronicDe novo--Wilfert2021 G
NAPRT     11356.p1chr8:
144659231-144659231		CTsplicingDe novosplicing15.08-Wilfert2021 G
PLEKHA5     14108.p1chr12:
19584957-19584957		CGintergenicDe novo--Wilfert2021 G
DERA     12572.p1chr12:
16308071-16308071		GCintergenicDe novo--Wilfert2021 G
SOCS2     12733.p1chr12:
93965228-93965228		CTintronicDe novo--Wilfert2021 G
ATP2B1-AS1     13637.p1chr12:
90811512-90811512		AGintergenicDe novo--Wilfert2021 G
PARP10     14545.p1chr8:
145059354-145059354		AGexonicDe novosynonymous SNVNM_032789c.T816Cp.A272A--Wilfert2021 G
OPLAH     11518.p1chr8:
145114848-145114848		CTexonicDe novononsynonymous SNVNM_017570c.G88Ap.V30M12.878.484E-6Wilfert2021 G
CORO1C     13750.p1chr12:
109085455-109085455		GAintronicDe novo--Wilfert2021 G
CFAP54     14544.p1chr12:
96915953-96915954		AGAexonicDe novoframeshift deletionNM_001306084c.1145delGp.R382fs--Wilfert2021 G
GRIP1     14404.p1chr12:
67127944-67127944		ACintergenicDe novo--Wilfert2021 G
FBXL6     13063.p1chr8:
145580321-145580321		CTexonicDe novononsynonymous SNVNM_012162
NM_024555		c.G932A
c.G914A		p.R311H
p.R305H		2.2881.667E-5Wilfert2021 G
KRT74     13637.p1chr12:
52961775-52961775		AGintronicDe novo--Wilfert2021 G
KITLG     11729.p1chr12:
89261882-89261882		ATintergenicDe novo--Wilfert2021 G
MFSD3     11776.p1chr8:
145735146-145735146		AAAGCTGGGGGCCGCGCTexonicDe novoframeshift insertionNM_138431c.430_431insAGCTGGGGGCCGCGCTp.K144fs--Wilfert2021 G
MYRFL     13775.p1chr12:
70289233-70289233		ATexonicDe novostopgainNM_182530c.A1063Tp.K355X47.0-Wilfert2021 G
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-6Wilfert2021 G
NCOR2     12948.p1chr12:
125106918-125106922		CGTACTGCATintergenicInherited--Wilfert2021 G
SPATA6L     13415.p1chr9:
4605416-4605416		TAexonicDe novosynonymous SNVNM_001039395c.A846Tp.T282T5.743-Wilfert2021 G
KSR2     13825.p1chr12:
118122627-118122627		TCintronicDe novo--Wilfert2021 G
13721.p1chr12:
130600511-130600511		GAintergenicDe novo--Wilfert2021 G
JAK2     12100.p1chr9:
5126467-5126467		CGintronicDe novo--Wilfert2021 G
TMEM132C     14260.p1chr12:
128850406-128850406		TAintronicDe novo--Wilfert2021 G
CUX2     14137.p1chr12:
111757982-111757982		GGCexonicDe novoframeshift insertionNM_015267c.2170dupCp.V723fs--Wilfert2021 G
FOXN4     13637.p1chr12:
109779184-109779184		TAintergenicDe novo--Wilfert2021 G
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-6Wilfert2021 G
TBX3     13825.p1chr12:
115878431-115878431		GCintergenicDe novo--Wilfert2021 G
ALDH2     13996.p1chr12:
112236048-112236048		TGsplicingDe novosplicing22.3-Wilfert2021 G
FRY     11060.p1chr13:
32768371-32768371		AACexonicDe novoframeshift insertionNM_023037c.3684dupCp.Y1228fs--Wilfert2021 G
PLUT   14019.p1chr13:
28458573-28458573		AATGTncRNA_intronicDe novo--Wilfert2021 G
STARD13     12303.p1chr13:
33697456-33697456		GAintronicDe novo--Wilfert2021 G
NFIB     14385.p1chr9:
14150143-14150143		CTsplicingDe novosplicing20.8-Wilfert2021 G
FRY     12647.p1chr13:
32832110-32832110		GAintronicDe novo--Wilfert2021 G
ZNF84     12137.p1chr12:
133614131-133614140		TGTGAGTTCATsplicingDe novosplicing--Wilfert2021 G
CCDC171     14575.p1chr9:
15784693-15784693		GAsplicingDe novosplicing19.64-Wilfert2021 G
RIMBP2     13169.p1chr12:
131070869-131070870		CATGintergenicMaternal--Wilfert2021 G
ADAMTSL1     13872.p1chr9:
18721602-18721602		GAexonicDe novononsynonymous SNVNM_001040272c.G1945Ap.V649M19.215.77E-5Wilfert2021 G
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-Wilfert2021 G
TNFRSF19     13637.p1chr13:
24166239-24166239		CTintronicDe novo--Wilfert2021 G
XPO4     13143.p1chr13:
21496579-21496579		CTintergenicDe novo--Wilfert2021 G
MYCBP2     13041.p1chr13:
77750618-77750631		TCAGTTGAAACTACTsplicingDe novosplicing--Wilfert2021 G
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		--Wilfert2021 G
KLF12     13637.p1chr13:
74383944-74383944		ACintronicDe novo--Wilfert2021 G
TUSC1     14620.p1chr9:
25677688-25677688		CTexonicDe novostopgainNM_001004125c.G632Ap.W211X38.0-Wilfert2021 G
SLITRK6     11729.p1chr13:
86505397-86505397		TCintergenicDe novo--Wilfert2021 G
LINC00333   12102.p1chr13:
85093739-85093739		GAncRNA_intronicDe novo--Wilfert2021 G
ENOX1     13143.p1chr13:
43852353-43852353		CTintronicDe novo--Wilfert2021 G
MIR548F5     11729.p1chr13:
36058659-36058659		AGncRNA_intronicDe novo--Wilfert2021 G
LINC01075   11729.p1chr13:
63083045-63083045		CTintergenicDe novo--Wilfert2021 G
LINC01065   12829.p1chr13:
53976894-53976894		GTintergenicDe novo--Wilfert2021 G
AKAP6     13945.p1chr14:
33404059-33404059		GGAintergenicDe novo--Wilfert2021 G
AKAP6     13825.p1chr14:
32981815-32981815		AGintronicDe novo--Wilfert2021 G
EXD2     14303.p1chr14:
69719806-69719806		CTintergenicDe novo--Wilfert2021 G
LINC00648     11729.p1chr14:
49558842-49558842		GCintergenicDe novo--Wilfert2021 G
GPR180     14329.p1chr13:
95314594-95314594		TCintergenicDe novo--Wilfert2021 G
LINC00433   13454.p1chr13:
89399211-89399213		ATCTTTintergenicMaternal--Wilfert2021 G
AKAP6     14093.p1chr14:
32830259-32830259		CCATATATATATintronicDe novo--Wilfert2021 G
ITGBL1     11729.p1chr13:
102327460-102327460		CGintronicDe novo--Wilfert2021 G
CD72     12630.p1chr9:
35611807-35611807		CTexonicDe novononsynonymous SNVNM_001782c.G944Ap.R315H0.0241.649E-5Wilfert2021 G
PPP4R3A     14423.p1chr14:
91932755-91932755		CTintronicDe novo--Wilfert2021 G
FOXN3     11938.p1chr14:
89951874-89951874		GGGTGTGTGAGAGTAGAGTAAATAATCAintronicMaternal--Wilfert2021 G
RNF38     12056.p1chr9:
36375929-36375929		AGsplicingDe novosplicing20.7-Wilfert2021 G
CDC42BPB     14152.p1chr14:
103433357-103433357		GAintronicDe novo-0.0011Wilfert2021 G
HHIPL1     13143.p1chr14:
100137354-100137354		CTintronicDe novo--Wilfert2021 G
POMT2 <