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Michaelson2012
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Results for "Michaelson2012"
Variant Events: 632
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
CCSER2
74-0265
chr10:
86147840-86147840
C
T
intronic
Inherited
-
-
Michaelson2012
G
LIPK
74-0117
chr10:
90492541-90492541
G
A
intronic
De novo
-
-
Michaelson2012
G
COL13A1
60-2027
chr10:
71650267-71650267
C
A
intronic
Inherited
-
-
Michaelson2012
G
LRMDA
74-0115
chr10:
77830946-77830946
C
T
intronic
De novo
-
-
Michaelson2012
G
C10orf76
63-449
chr10:
103608373-103608373
C
T
intronic
De novo
-
-
Michaelson2012
G
LINC01435
74-0265
chr10:
110060987-110060987
G
A
intergenic
De novo
-
-
Michaelson2012
G
CPEB3
74-0265
chr10:
93859835-93859835
C
T
intronic
Inherited
-
-
Michaelson2012
G
ENTPD1-AS1
74-0688
chr10:
97622263-97622263
T
C
ncRNA_intronic
De novo
-
-
Michaelson2012
G
MIR5694
74-0355
chr10:
122636302-122636302
A
G
ncRNA_intronic
De novo
-
-
Michaelson2012
G
ACADSB
74-0688
chr10:
124878684-124878684
G
A
intergenic
De novo
-
-
Michaelson2012
G
LINC01435
74-0265
chr10:
110568348-110568348
C
T
intergenic
De novo
-
-
Michaelson2012
G
TIAL1
74-0355
chr10:
121371957-121371957
T
C
intergenic
De novo
-
-
Michaelson2012
G
OR52A1
74-0115
chr11:
5179891-5179891
A
G
intergenic
De novo
-
-
Michaelson2012
G
CCKBR
60-2027
chr11:
6307196-6307196
C
T
intergenic
De novo
-
-
Michaelson2012
G
STK32C
63-343
chr10:
134025921-134025921
A
T
intronic
De novo
-
-
Michaelson2012
G
MIR4686
63-343
chr11:
2208095-2208095
C
T
intergenic
Inherited
-
-
Michaelson2012
G
TEAD1
74-0265
chr11:
12819715-12819715
T
G
intronic
De novo
-
-
Michaelson2012
G
LOC102724957
63-343
chr11:
15793508-15793508
G
A
intergenic
De novo
-
-
Michaelson2012
G
APBB1
74-0355
chr11:
6422669-6422669
G
A
intronic
De novo
-
3.0E-4
Michaelson2012
G
GALNT18
74-0355
chr11:
11509604-11509604
T
C
intronic
De novo
-
-
Michaelson2012
G
LINC01499
63-343
chr11:
42061120-42061120
C
T
intergenic
De novo
-
-
Michaelson2012
G
74-0115
chr11:
54818469-54818469
A
G
intergenic
De novo
-
-
Michaelson2012
G
BBOX1-AS1
74-0115
chr11:
27180975-27180975
A
G
ncRNA_intronic
De novo
-
-
Michaelson2012
G
PAX6-AS1
74-0075
chr11:
31936047-31936047
G
A
intergenic
De novo
-
-
Michaelson2012
G
OR5W2
74-0352
chr11:
55693994-55693994
A
T
intergenic
De novo
-
-
Michaelson2012
G
MS4A5
74-0265
chr11:
60213222-60213222
G
C
intronic
De novo
-
-
Michaelson2012
G
74-0115
chr11:
54818502-54818502
A
G
intergenic
De novo
-
-
Michaelson2012
G
OR4A15
74-0115
chr11:
55239514-55239514
C
T
intergenic
De novo
-
-
Michaelson2012
G
SHANK2
74-0115
chr11:
71103740-71103740
A
C
intergenic
De novo
-
-
Michaelson2012
G
CLPB
74-0352
chr11:
72165714-72165714
C
T
intergenic
De novo
-
-
Michaelson2012
G
CYB561A3
74-0355
chr11:
61120863-61120863
C
T
intronic
De novo
-
-
Michaelson2012
G
CAPN1
74-0355
chr11:
64958372-64958372
C
T
intronic
Inherited
-
-
Michaelson2012
G
ENDOD1
74-0115
chr11:
94843166-94843166
C
T
intronic
De novo
-
-
Michaelson2012
G
LOC100129203
74-0075
chr11:
95111231-95111231
G
T
intergenic
Inherited
-
-
Michaelson2012
G
TMEM135
63-449
chr11:
87813204-87813204
C
T
intergenic
De novo
-
-
Michaelson2012
G
DISC1FP1
74-0355
chr11:
91695897-91695897
T
C
intergenic
De novo
-
-
Michaelson2012
G
POU2F3
74-0352
chr11:
120148900-120148900
C
T
intronic
De novo
-
-
Michaelson2012
G
POU2F3
63-343
chr11:
120150578-120150578
A
G
intronic
De novo
-
-
Michaelson2012
G
74-0265
chr11:
98744557-98744557
T
C
intergenic
De novo
-
-
Michaelson2012
G
LOC101928535
74-0075
chr11:
106240320-106240320
C
G
intergenic
De novo
-
-
Michaelson2012
G
SNX19
74-0075
chr11:
130753887-130753887
G
A
intronic
De novo
-
-
Michaelson2012
G
NTM-IT
74-0355
chr11:
132158233-132158233
A
C
ncRNA_exonic
De novo
-
-
Michaelson2012
G
FEZ1
63-449
chr11:
125353019-125353019
A
G
intronic
De novo
-
-
Michaelson2012
G
KIRREL3
74-0075
chr11:
126293122-126293122
A
G
downstream
De novo
-
-
Michaelson2012
G
GUCY2C
74-0265
chr12:
14811277-14811277
A
G
intronic
De novo
-
-
Michaelson2012
G
PIK3C2G
74-0352
chr12:
18510221-18510221
C
T
intronic
De novo
-
-
Michaelson2012
G
OPCML
74-0352
chr11:
133255039-133255039
C
T
intronic
De novo
-
-
Michaelson2012
G
CLEC4C
74-0115
chr12:
7913532-7913532
A
G
intergenic
De novo
-
-
Michaelson2012
G
ITPR2
74-0075
chr12:
27007722-27007722
C
T
intergenic
De novo
-
-
Michaelson2012
G
CCDC91
63-449
chr12:
28967361-28967361
G
A
intergenic
Inherited
-
-
Michaelson2012
G
PDE3A
74-0265
chr12:
20809162-20809162
C
A
intronic
De novo
-
-
Michaelson2012
G
SOX5
74-0075
chr12:
24573280-24573280
G
A
intronic
De novo
-
-
Michaelson2012
G
ZNF641
60-2027
chr12:
48847757-48847757
T
C
intergenic
De novo
-
-
Michaelson2012
G
ADCY6
74-0355
chr12:
49173603-49173603
C
T
intronic
De novo
-
-
Michaelson2012
G
ALG10
74-0117
chr12:
34787157-34787157
G
A
intergenic
De novo
-
-
Michaelson2012
G
74-0117
chr12:
38320670-38320670
C
G
intergenic
De novo
-
-
Michaelson2012
G
SLC16A7
74-0117
chr12:
61329558-61329558
G
A
intergenic
De novo
-
-
Michaelson2012
G
CAND1
74-0688
chr12:
67874041-67874041
C
T
intergenic
De novo
-
-
Michaelson2012
G
GRASP
63-343
chr12:
52413975-52413975
A
T
intergenic
De novo
-
-
Michaelson2012
G
ATP23
60-2027
chr12:
58565718-58565718
G
T
intergenic
De novo
-
-
Michaelson2012
G
SYT1
74-0355
chr12:
79552075-79552075
C
A
intronic
Inherited
-
-
Michaelson2012
G
TMTC2
63-343
chr12:
85184869-85184869
G
A
intergenic
De novo
-
-
Michaelson2012
G
CSRP2
74-0355
chr12:
77345825-77345825
T
G
intergenic
De novo
-
-
Michaelson2012
G
E2F7
74-0265
Complex Event; expand row to view variants
De novo
-
-
Michaelson2012
G
Michaelson2012
G
LOC643339
74-0355
chr12:
93657212-93657212
A
C
ncRNA_intronic
De novo
-
-
Michaelson2012
G
TMPO
74-0117
chr12:
98935929-98935929
A
T
intronic
De novo
-
-
Michaelson2012
G
LRRIQ1
74-0115
chr12:
85605030-85605030
T
C
intronic
De novo
-
-
Michaelson2012
G
CLLU1
74-0352
chr12:
93050835-93050835
C
T
intergenic
De novo
-
-
Michaelson2012
G
TMEM132C
63-343
chr12:
128807886-128807886
C
T
intronic
De novo
-
-
Michaelson2012
G
TMEM132D
74-0355
chr12:
129581774-129581774
C
T
intronic
De novo
-
-
Michaelson2012
G
TMEM132B
60-2027
chr12:
126210830-126210830
G
A
intergenic
De novo
-
-
Michaelson2012
G
LINC00508
74-0352
chr12:
128495381-128495381
T
C
intergenic
De novo
-
-
Michaelson2012
G
TPTE2
74-0117
chr13:
20070302-20070302
G
A
intronic
Inherited
-
-
Michaelson2012
G
PAN3
74-0352
chr13:
28816616-28816616
A
G
intronic
De novo
-
-
Michaelson2012
G
TMEM132D
63-449
chr12:
129763346-129763346
C
T
intronic
De novo
-
-
Michaelson2012
G
74-0355
chr13:
19268460-19268460
G
A
intergenic
Inherited
-
-
Michaelson2012
G
TNFSF11
74-0688
chr13:
43174597-43174597
A
T
intronic
De novo
-
-
Michaelson2012
G
SIAH3
60-2027
chr13:
46387345-46387345
G
A
intronic
De novo
-
-
Michaelson2012
G
LINC00437
74-0075
chr13:
39203634-39203634
T
C
ncRNA_intronic
De novo
-
-
Michaelson2012
G
NHLRC3
74-0115
chr13:
39827232-39827232
G
T
intergenic
De novo
-
-
Michaelson2012
G
LINC00374
63-343
chr13:
60108301-60108301
C
A
intergenic
De novo
-
-
Michaelson2012
G
ATXN8OS
60-2027
chr13:
71205121-71205121
T
C
intergenic
De novo
-
-
Michaelson2012
G
RCBTB2
74-0115
chr13:
49093194-49093194
A
G
intronic
De novo
-
-
Michaelson2012
G
DLEU2
74-0265
chr13:
50585012-50585012
C
G
ncRNA_intronic
De novo
-
-
Michaelson2012
G
LMO7DN
63-449
chr13:
77317909-77317909
A
G
intergenic
De novo
-
-
Michaelson2012
G
LINC00564
74-0352
chr13:
82415376-82415376
C
T
intergenic
De novo
-
-
Michaelson2012
G
DIS3
74-0355
chr13:
73344238-73344238
G
A
intronic
De novo
-
-
Michaelson2012
G
PIBF1
74-0352
chr13:
73429508-73429508
G
C
intronic
De novo
-
-
Michaelson2012
G
FAM155A
74-0265
chr13:
108303700-108303700
C
T
intronic
De novo
-
-
Michaelson2012
G
EDDM3A
74-0117
chr14:
21218842-21218842
C
T
intergenic
De novo
-
-
Michaelson2012
G
LINC00559
74-0355
chr13:
90862385-90862385
T
C
intergenic
De novo
-
-
Michaelson2012
G
LINC00443
74-0352
chr13:
107731350-107731350
C
G
intergenic
De novo
-
-
Michaelson2012
G
NPAS3
74-0117
chr14:
34079789-34079789
A
T
intronic
De novo
-
-
Michaelson2012
G
EGLN3
74-0352
chr14:
34518928-34518928
C
T
intergenic
De novo
-
-
Michaelson2012
G
AKAP6
74-0355
chr14:
32758933-32758933
T
C
intergenic
Inherited
-
-
Michaelson2012
G
NPAS3
74-0265
chr14:
33486058-33486058
C
A
intronic
De novo
-
-
Michaelson2012
G
LINC00648
60-2027
chr14:
49229747-49229747
A
G
intergenic
De novo
-
-
Michaelson2012
G
RAD51B
74-0688
chr14:
68661217-68661217
C
T
intronic
De novo
-
-
Michaelson2012
G
CLEC14A
74-0075
chr14:
39019415-39019415
G
T
intergenic
De novo
-
-
Michaelson2012
G
FBXO33
60-2027
chr14:
40267556-40267556
A
G
intergenic
De novo
-
-
Michaelson2012
G
DPF3
63-343
chr14:
73307939-73307939
G
C
intronic
De novo
-
-
Michaelson2012
G
NUMB
74-0075
chr14:
73928740-73928740
G
A
intergenic
De novo
-
-
Michaelson2012
G
PLEKHD1
74-0355
chr14:
69965334-69965334
T
C
intronic
Unknown
-
-
Michaelson2012
G
RGS6
63-343
chr14:
72975844-72975844
G
A
intronic
Inherited
-
-
Michaelson2012
G
DIO2-AS1
74-0355
chr14:
80914912-80914912
C
T
ncRNA_intronic
De novo
-
-
Michaelson2012
G
63-343
chr14:
86679030-86679030
G
C
intergenic
De novo
-
-
Michaelson2012
G
NUMB
74-0075
chr14:
73930160-73930160
T
A
intergenic
De novo
-
-
Michaelson2012
G
NUMB
74-0075
chr14:
73930295-73930295
G
A
intergenic
De novo
-
-
Michaelson2012
G
SERPINA1
60-2027
chr14:
94867213-94867213
G
C
intergenic
De novo
-
-
Michaelson2012
G
SYNE3
74-0115
chr14:
95954490-95954490
A
C
intergenic
De novo
-
-
Michaelson2012
G
FOXN3
74-0117
chr14:
89853770-89853770
A
C
intronic
De novo
-
-
Michaelson2012
G
PSMC1
60-2027
chr14:
90733678-90733678
T
A
intronic
De novo
-
-
Michaelson2012
G
PWRN3
74-0688
chr15:
24730801-24730801
C
A
intergenic
De novo
-
-
Michaelson2012
G
GABRG3
74-0352
chr15:
27388484-27388484
C
T
intronic
De novo
-
-
Michaelson2012
G
LINC01550
74-0688
chr14:
98449324-98449324
G
A
intergenic
De novo
-
-
Michaelson2012
G
TECPR2
74-0265
chr14:
102913784-102913784
C
G
intronic
De novo
-
-
Michaelson2012
G
SLC12A1
63-343
chr15:
48560744-48560744
G
A
intronic
De novo
-
-
Michaelson2012
G
ADAM10
74-0117
chr15:
58903343-58903343
A
G
intronic
De novo
-
8.386E-6
Michaelson2012
G
MIR4510
74-0075
chr15:
36837434-36837434
T
A
intergenic
De novo
-
-
Michaelson2012
G
CHP1
63-343
chr15:
41535519-41535519
C
G
intronic
De novo
-
-
Michaelson2012
G
AGBL1
74-0075
chr15:
88062116-88062116
G
A
intergenic
De novo
-
-
Michaelson2012
G
MRPS11
74-0355
chr15:
89042293-89042293
C
G
intergenic
De novo
-
-
Michaelson2012
G
SNX1
74-0075
chr15:
64435634-64435634
C
G
UTR3
De novo
-
-
Michaelson2012
G
RPLP1
74-0075
chr15:
69815593-69815593
C
T
intergenic
De novo
-
-
Michaelson2012
G
NR2F2
74-0075
chr15:
97278617-97278617
C
G
intergenic
De novo
-
-
Michaelson2012
G
MEF2A
74-0355
chr15:
100197932-100197932
A
T
intronic
De novo
-
-
Michaelson2012
G
MCTP2
74-0075
chr15:
95135361-95135361
T
C
intergenic
De novo
-
-
Michaelson2012
G
LINC00924
63-343
chr15:
96219836-96219836
A
G
intergenic
De novo
-
-
Michaelson2012
G
ZC3H7A
74-0117
chr16:
11845395-11845395
A
G
intronic
De novo
-
8.551E-6
Michaelson2012
G
SHISA9
74-0115
chr16:
13219055-13219055
A
C
intronic
De novo
-
-
Michaelson2012
G
CERS3
74-0117
chr15:
100981388-100981388
C
T
intronic
Unknown
-
-
Michaelson2012
G
FAHD1
74-0688
Complex Event; expand row to view variants
De novo
-
-
Michaelson2012
G
Michaelson2012
G
CDR2
74-0355
chr16:
22420926-22420926
C
T
intergenic
De novo
-
-
Michaelson2012
G
ZNF720
74-0352
chr16:
31791008-31791008
A
G
intergenic
De novo
-
-
Michaelson2012
G
XYLT1
63-343
chr16:
17245009-17245009
G
A
intronic
Inherited
-
-
Michaelson2012
G
DNAH3
74-0352
chr16:
21135458-21135458
A
G
intronic
Unknown
-
-
Michaelson2012
G
74-0115
chr16:
52433188-52433188
T
C
intergenic
De novo
-
-
Michaelson2012
G
MIR4426
74-0117
chr16:
61632763-61632763
C
T
intergenic
De novo
-
-
Michaelson2012
G
LINC02167
74-0352
chr16:
35174655-35174655
G
C
intergenic
De novo
-
-
Michaelson2012
G
CNEP1R1
74-0117
chr16:
50068229-50068229
C
A
intronic
De novo
-
-
Michaelson2012
G
PKD1L3
74-0115
chr16:
71965114-71965114
G
A
intronic
De novo
-
-
Michaelson2012
G
WWOX
74-0355
chr16:
79149665-79149665
A
C
intronic
De novo
-
-
Michaelson2012
G
CDH8
74-0075
chr16:
63592659-63592659
T
C
intergenic
De novo
-
-
Michaelson2012
G
CTCF
63-449
chr16:
67669454-67669454
C
T
intronic
Inherited
-
-
Michaelson2012
G
ARHGAP44
74-0352
chr17:
12852468-12852468
A
T
exonic
De novo
synonymous SNV
NM_014859
c.A873T
p.R291R
-
-
Michaelson2012
G
NCOR1
74-0117
chr17:
15974374-15974374
C
T
intronic
Inherited
-
-
Michaelson2012
G
WWOX
74-0352
chr16:
79622780-79622780
C
T
intergenic
De novo
-
-
Michaelson2012
G
DNAH2
63-343
chr17:
7627295-7627295
A
G
intronic
De novo
-
-
Michaelson2012
G
FBXL20
74-0265
chr17:
37460702-37460702
G
A
intronic
De novo
-
-
Michaelson2012
G
FZD2
74-0075
chr17:
42659978-42659978
A
C
intergenic
De novo
-
-
Michaelson2012
G
ASIC2
60-2027
chr17:
32292578-32292578
A
G
intronic
De novo
-
-
Michaelson2012
G
ACACA
74-0352
chr17:
35457119-35457119
C
T
intronic
De novo
-
-
Michaelson2012
G
C17orf112
74-0352
chr17:
51724648-51724648
C
G
intergenic
De novo
-
-
Michaelson2012
G
MMD
60-2027
chr17:
53742909-53742909
A
T
intergenic
De novo
-
-
Michaelson2012
G
CDK5RAP3
74-0688
chr17:
46071413-46071413
C
T
intergenic
De novo
-
-
Michaelson2012
G
CBX1
74-0355
chr17:
46180534-46180534
A
C
intergenic
De novo
-
-
Michaelson2012
G
HSF5
74-0115
chr17:
56513307-56513307
T
G
intronic
De novo
-
-
Michaelson2012
G
CEP112
63-343
chr17:
64154717-64154717
G
A
intronic
Inherited
-
-
Michaelson2012
G
RNF126P1
74-0355
chr17:
55157063-55157063
G
A
intergenic
De novo
-
-
Michaelson2012
G
MSI2
74-0075
chr17:
55428701-55428701
G
A
intronic
De novo
-
-
Michaelson2012
G
B3GNTL1
74-0117
chr17:
80975663-80975663
C
T
intronic
Unknown
-
-
Michaelson2012
G
LOC102723376
74-0115
chr18:
99313-99313
G
A
intergenic
De novo
-
-
Michaelson2012
G
ARSG
74-0115
chr17:
66303922-66303922
C
T
intronic
De novo
-
-
Michaelson2012
G
RBFOX3
74-0688
chr17:
77385960-77385960
C
A
intronic
De novo
-
-
Michaelson2012
G
RAB31
63-449
chr18:
9795027-9795027
G
A
intronic
De novo
-
-
Michaelson2012
G
RAB31
60-2027
chr18:
9822606-9822606
C
T
intronic
De novo
-
-
Michaelson2012
G
LINC00470
60-2027
chr18:
2206884-2206884
C
T
intergenic
Inherited
-
-
Michaelson2012
G
TWSG1
74-0352
chr18:
9340986-9340986
G
A
intronic
De novo
-
-
Michaelson2012
G
ANKRD20A5P
74-0115
chr18:
14216252-14216252
A
T
ncRNA_intronic
De novo
-
-
Michaelson2012
G
ROCK1
74-0265
chr18:
18566957-18566957
T
C
exonic
De novo
nonsynonymous SNV
NM_005406
c.A2258G
p.Q753R
27.6
-
Michaelson2012
G
PIEZO2
60-2027
chr18:
11197327-11197327
A
G
intergenic
Unknown
-
-
Michaelson2012
G
SPIRE1
74-0688
chr18:
12540400-12540400
G
A
intronic
De novo
-
-
Michaelson2012
G
CCDC178
60-2027
chr18:
31100191-31100191
A
G
intergenic
De novo
-
-
Michaelson2012
G
NOL4
74-0688
chr18:
31567744-31567744
A
G
intronic
De novo
-
-
Michaelson2012
G
TTC39C
74-0115
chr18:
21635211-21635211
G
A
intronic
De novo
-
-
Michaelson2012
G
KLHL14
63-343
chr18:
30414210-30414210
A
T
intergenic
De novo
-
-
Michaelson2012
G
MIR924HG
74-0352
chr18:
36897150-36897150
A
T
ncRNA_intronic
De novo
-
-
Michaelson2012
G
LINC01477
74-0688
chr18:
38286249-38286249
T
C
intergenic
De novo
-
-
Michaelson2012
G
NOL4
63-343
chr18:
31791702-31791702
A
G
intronic
De novo
-
-
Michaelson2012
G
CELF4
63-343
chr18:
35094644-35094644
G
A
intronic
De novo
-
-
Michaelson2012
G
ZNF532
74-0075
chr18:
56585011-56585011
C
A
intronic
De novo
-
-
Michaelson2012
G
TNFRSF11A
74-0117
chr18:
60132110-60132110
T
A
intergenic
De novo
-
-
Michaelson2012
G
MIR4527
63-449
chr18:
45088529-45088529
C
T
intergenic
De novo
-
-
Michaelson2012
G
TCF4
74-0688
chr18:
52889988-52889988
C
T
UTR3
De novo
-
-
Michaelson2012
G
LOC643542
63-449
chr18:
65936701-65936701
T
C
intergenic
De novo
-
-
Michaelson2012
G
CCDC102B
60-2027
chr18:
66635187-66635187
C
G
intronic
De novo
-
-
Michaelson2012
G
PHLPP1
74-0075
chr18:
60716621-60716621
T
A
intergenic
De novo
-
-
Michaelson2012
G
LOC643542
74-0352
chr18:
65688496-65688496
G
A
intergenic
De novo
-
-
Michaelson2012
G
ATP9B
60-2027
chr18:
76882806-76882806
A
G
intronic
De novo
-
-
Michaelson2012
G
NFATC1
63-343
chr18:
77191334-77191334
G
A
intronic
De novo
-
-
Michaelson2012
G
ZNF516
63-343
chr18:
74197922-74197922
G
C
intronic
De novo
-
-
Michaelson2012
G
SALL3
60-2027
chr18:
76760523-76760523
T
C
intergenic
De novo
-
-
Michaelson2012
G
CLEC4GP1
74-0352
chr19:
7891520-7891520
G
A
intergenic
De novo
-
-
Michaelson2012
G
ZNF846
63-343
chr19:
9909567-9909567
G
A
intergenic
Inherited
-
-
Michaelson2012
G
CTDP1
74-0355
chr18:
77596765-77596765
C
T
intergenic
De novo
-
-
Michaelson2012
G
MUM1
74-0352
chr19:
1359503-1359503
T
C
intronic
De novo
-
-
Michaelson2012
G
CEACAM3
74-0355
chr19:
42318645-42318645
T
C
intergenic
De novo
-
-
Michaelson2012
G
SAE1
74-0355
chr19:
47709839-47709839
G
A
intronic
De novo
-
-
Michaelson2012
G
PEPD
63-449
chr19:
34109547-34109547
T
C
intergenic
Unknown
-
-
Michaelson2012
G
FAM187B
74-0115
chr19:
35728882-35728882
G
C
intergenic
De novo
-
-
Michaelson2012
G
ALKAL2
74-0352
chr2:
295879-295879
A
G
intergenic
De novo
-
-
Michaelson2012
G
ALKAL2
74-0115
chr2:
519482-519482
G
T
intergenic
De novo
-
-
Michaelson2012
G
ZNF541
74-0688
chr19:
48059057-48059057
A
G
exonic
De novo
synonymous SNV
NM_001277075
c.T57C
p.P19P
-
-
Michaelson2012
G
U2AF2
74-0688
chr19:
56178954-56178954
C
G
intronic
De novo
-
-
Michaelson2012
G
FAM98A
74-0355
chr2:
33907514-33907514
G
T
intergenic
De novo
-
-
Michaelson2012
G
LINC01320
63-449
chr2:
36040834-36040834
C
T
intergenic
De novo
-
-
Michaelson2012
G
RNF144A
74-0265
chr2:
7101172-7101172
A
G
intronic
Inherited
-
-
Michaelson2012
G
XDH
63-343
chr2:
31735492-31735492
G
T
intergenic
Inherited
-
-
Michaelson2012
G
NRXN1
74-0352
chr2:
52580360-52580360
A
T
intergenic
De novo
-
-
Michaelson2012
G
VRK2
74-0688
chr2:
58231224-58231224
T
A
intronic
De novo
-
-
Michaelson2012
G
LOC728730
74-0115
chr2:
39878592-39878592
C
G
intergenic
De novo
-
-
Michaelson2012
G
SLC8A1
63-343
chr2:
41448454-41448454
C
G
intergenic
De novo
-
-
Michaelson2012
G
LINC01122
74-0117
chr2:
59145179-59145179
A
G
ncRNA_intronic
De novo
-
-
Michaelson2012
G
BCL11A
74-0075
chr2:
60972232-60972232
C
A
intergenic
De novo
-
-
Michaelson2012
G
VRK2
74-0355
chr2:
58288502-58288502
T
A
intronic
De novo
-
-
Michaelson2012
G
LINC01122
74-0688
chr2:
58923309-58923309
T
C
ncRNA_intronic
De novo
-
-
Michaelson2012
G
TACR1
74-0117
chr2:
75459188-75459188
A
G
intergenic
De novo
-
-
Michaelson2012
G
EVA1A
74-0355
chr2:
75732066-75732066
G
A
intronic
De novo
-
-
Michaelson2012
G
USP34
74-0265
chr2:
61451538-61451538
T
G
intronic
De novo
-
-
Michaelson2012
G
LOC339807
74-0355
chr2:
64844095-64844095
G
A
downstream
De novo
-
-
Michaelson2012
G
CTNNA2
74-0117
chr2:
80847448-80847448
C
T
intronic
De novo
-
-
Michaelson2012
G
CTNNA2
74-0355
chr2:
81033108-81033108
G
A
intergenic
De novo
-
-
Michaelson2012
G
LRRTM4
74-0265
chr2:
77624541-77624541
T
G
intronic
De novo
-
-
Michaelson2012
G
LOC101927967
63-343
chr2:
78074545-78074545
A
G
ncRNA_intronic
De novo
-
-
Michaelson2012
G
EIF2AK3
74-0355
chr2:
88936112-88936112
C
A
intergenic
De novo
-
-
Michaelson2012
G
AFF3
74-0075
chr2:
100265101-100265101
A
G
intronic
De novo
-
-
Michaelson2012
G
63-449
chr2:
82490491-82490491
C
T
intergenic
De novo
-
-
Michaelson2012
G
74-0075
chr2:
83289033-83289033
C
T
intergenic
De novo
-
-
Michaelson2012
G
CNTNAP5
74-0115
chr2:
125647238-125647238
T
C
intronic
De novo
-
-
Michaelson2012
G
MIR7853
63-343
chr2:
133976130-133976130
A
C
ncRNA_intronic
De novo
-
-
Michaelson2012
G
IL1R1
60-2027
chr2:
102703517-102703517
C
T
intronic
De novo
-
-
Michaelson2012
G
TMEM182
60-2027
chr2:
103451691-103451691
C
T
intergenic
De novo
-
-
Michaelson2012
G
SLC38A11
74-0265
chr2:
165901252-165901252
G
A
intergenic
Inherited
-
-
Michaelson2012
G
ERICH2
74-0075
chr2:
171654841-171654841
C
T
intronic
De novo
-
-
Michaelson2012
G
HNMT
74-0075
chr2:
139007684-139007684
A
C
intergenic
De novo
-
-
Michaelson2012
G
ARHGAP15
63-343
chr2:
144545126-144545126
T
C
intergenic
De novo
-
-
Michaelson2012
G
60-2027
chr2:
182123576-182123576
A
C
ncRNA_intronic
De novo
-
-
Michaelson2012
G
PPP1R1C
74-0352
chr2:
182998847-182998847
A
G
intergenic
De novo
-
-
Michaelson2012
G
CDCA7
74-0115
chr2:
174683396-174683396
G
A
intergenic
De novo
-
-
Michaelson2012
G
CCDC141
74-0355
chr2:
179833588-179833588
A
G
intronic
De novo
-
-
Michaelson2012
G
PLCL1
74-0075
chr2:
198733033-198733033
T
C
intronic
De novo
-
-
Michaelson2012
G
PLCL1
74-0352
chr2:
198953608-198953608
A
G
exonic
De novo
synonymous SNV
NM_006226
c.A2742G
p.L914L
-
-
Michaelson2012
G
MIR548AE1
63-449
chr2:
185261627-185261627
G
A
intergenic
Inherited
-
-
Michaelson2012
G
NEMP2
63-343
chr2:
191490360-191490360
A
G
intergenic
De novo
-
-
Michaelson2012
G
CPS1
63-449
chr2:
211700047-211700047
T
C
intergenic
De novo
-
-
Michaelson2012
G
LOC100130451
74-0352
chr2:
214140665-214140665
G
A
downstream
De novo
-
-
Michaelson2012
G
CREB1
74-0117
chr2:
208205955-208205955
A
C
intergenic
De novo
-
-
Michaelson2012
G
PTH2R
74-0352
chr2:
209892174-209892174
T
C
intergenic
De novo
-
-
Michaelson2012
G
PID1
74-0355
chr2:
230134174-230134174
A
G
intronic
De novo
-
-
Michaelson2012
G
DNER
74-0355
chr2:
230425407-230425407
T
C
intronic
De novo
-
-
Michaelson2012
G
Source Variant Information
?
, -
Source:
Paper alias:
No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes
View
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