chrom
stringclasses
24 values
pos
int64
10.2k
249M
ref
stringclasses
4 values
alt
stringclasses
4 values
label
stringclasses
4 values
source
stringclasses
4 values
consequence
stringlengths
9
465
id
stringlengths
1
7
review_status
stringclasses
5 values
GENOMIC_MUTATION_ID
stringlengths
12
12
n_samples
float64
44
1.46k
total_samples
float64
43.2k
43.2k
freq
float64
0
0.03
OMIM
stringlengths
3
10
Gene
stringlengths
2
8
PMID
float64
1.37M
26.6M
AC
float64
1
152k
AN
float64
140k
152k
AF
float64
0
1
MAF
float64
0
0.5
MAC
float64
1
76.1k
1
1,022,518
G
T
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
52,411
151,886
0.345068
0.345068
52,411
1
1,022,798
T
C
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,258
0.000007
0.000007
1
1
1,022,868
A
G
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
56,845
152,068
0.373813
0.373813
56,845
1
1,022,990
C
T
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,184
0.000007
0.000007
1
1
1,023,011
G
T
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,244
0.000007
0.000007
1
1
1,023,077
G
C
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,208
0.000007
0.000007
1
1
1,023,352
T
G
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,188
0.000007
0.000007
1
1
1,023,525
A
G
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
56,032
151,694
0.369375
0.369375
56,032
1
1,023,573
A
G
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
57,472
151,848
0.378484
0.378484
57,472
1
1,023,775
G
A
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
67,562
151,790
0.445102
0.445102
67,562
1
1,023,851
G
A
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
65,171
151,946
0.428909
0.428909
65,171
1
1,023,883
G
A
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,208
0.000007
0.000007
1
1
1,023,916
C
T
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,134
0.000007
0.000007
1
1
1,024,129
T
G
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
16,604
151,544
0.109566
0.109566
16,604
1
1,024,666
C
T
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,152
0.000007
0.000007
1
1
1,025,111
G
A
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,180
0.000007
0.000007
1
1
1,025,495
C
T
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,098
0.000007
0.000007
1
1
1,025,662
C
G
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,180
0.000007
0.000007
1
1
1,025,970
C
T
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
47,843
151,808
0.315155
0.315155
47,843
1
1,026,084
G
T
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
45,339
151,638
0.298995
0.298995
45,339
1
1,026,447
G
A
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
126,427
152,010
0.831702
0.168298
25,583
1
1,026,830
A
G
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
54,140
152,050
0.356067
0.356067
54,140
1
1,027,002
C
T
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,176
0.000007
0.000007
1
1
1,027,340
C
T
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
15,981
152,160
0.105028
0.105028
15,981
1
1,027,454
C
T
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,202
0.000007
0.000007
1
1
1,027,511
C
T
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
77,824
152,006
0.51198
0.48802
74,182
1
1,027,633
C
T
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
62,152
151,956
0.409013
0.409013
62,152
1
1,027,869
C
T
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
130,620
152,080
0.85889
0.14111
21,460
1
1,029,184
T
C
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,930
0.000007
0.000007
1
1
1,032,278
C
T
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
68,440
151,924
0.450488
0.450488
68,440
1
1,032,602
G
A
Rare
gnomAD
TF_binding_site_variant,intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,174
0.000007
0.000007
1
1
1,033,307
C
T
Rare
gnomAD
TF_binding_site_variant,intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,006
0.000007
0.000007
1
1
1,033,454
C
A
Rare
gnomAD
TF_binding_site_variant,intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,604
0.000007
0.000007
1
1
1,033,468
C
T
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,630
0.000007
0.000007
1
1
1,033,494
C
G
Rare
gnomAD
TF_binding_site_variant,intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,662
0.000007
0.000007
1
1
1,034,236
G
A
Rare
gnomAD
5_prime_UTR_variant,intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,174
0.000007
0.000007
1
1
1,034,279
G
A
Common
gnomAD
5_prime_UTR_variant,intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
41,919
151,976
0.275826
0.275826
41,919
1
1,034,355
C
T
Rare
gnomAD
5_prime_UTR_variant,intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,226
0.000007
0.000007
1
1
1,034,511
G
A
Rare
gnomAD
5_prime_UTR_variant,intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,172
0.000007
0.000007
1
1
1,034,756
C
T
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,208
0.000007
0.000007
1
1
1,035,706
C
T
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
1
152,162
0.000007
0.000007
1
1
1,036,754
C
T
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
130,839
151,658
0.862724
0.137276
20,819
1
1,037,139
C
T
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,180
0.000007
0.000007
1
1
1,037,459
C
T
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,228
0.000007
0.000007
1
1
1,037,956
A
G
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
133,995
151,920
0.88201
0.11799
17,925
1
1,037,997
G
A
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
133,949
151,904
0.8818
0.1182
17,955
1
1,038,078
C
T
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
132,364
151,860
0.871619
0.128381
19,496
1
1,038,233
G
A
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,212
0.000007
0.000007
1
1
1,038,288
A
G
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
131,774
152,046
0.866672
0.133328
20,272
1
1,038,800
G
T
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
133,977
151,944
0.881752
0.118248
17,967
1
1,038,819
C
T
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
133,995
151,946
0.881859
0.118141
17,951
1
1,038,845
A
G
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
134,098
152,000
0.882224
0.117776
17,902
1
1,038,916
A
G
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
134,008
151,956
0.881887
0.118113
17,948
1
1,038,976
T
C
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
133,990
151,986
0.881594
0.118406
17,996
1
1,039,114
G
T
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
134,108
152,086
0.881791
0.118209
17,978
1
1,039,259
G
A
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
151,930
0.000007
0.000007
1
1
1,039,282
G
T
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
135,724
151,544
0.895608
0.104392
15,820
1
1,039,514
C
T
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
121,906
151,784
0.803154
0.196846
29,878
1
1,039,753
T
A
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
133,877
151,820
0.881814
0.118186
17,943
1
1,039,796
G
A
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,164
0.000007
0.000007
1
1
1,040,281
T
C
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,162
0.000007
0.000007
1
1
1,040,322
A
G
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
134,281
152,136
0.882638
0.117362
17,855
1
1,040,519
C
T
Rare
gnomAD
TF_binding_site_variant,intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,078
0.000007
0.000007
1
1
1,041,159
A
C
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
150,238
0.000007
0.000007
1
1
1,041,950
T
C
Common
gnomAD
downstream_gene_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
131,987
151,164
0.873138
0.126862
19,177
1
1,042,190
G
A
Common
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
119,832
152,074
0.787985
0.212015
32,242
1
1,042,238
C
T
Rare
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,202
0.000007
0.000007
1
1
1,042,256
T
C
Rare
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,166
0.000007
0.000007
1
1
1,042,304
G
A
Rare
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,208
0.000007
0.000007
1
1
1,042,400
C
T
Common
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
122,070
151,998
0.803103
0.196897
29,928
1
1,042,772
G
T
Rare
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,060
0.000007
0.000007
1
1
1,043,658
C
G
Rare
gnomAD
downstream_gene_variant,missense_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,896
0.000007
0.000007
1
1
1,043,880
T
A
Rare
gnomAD
downstream_gene_variant,missense_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,878
0.000007
0.000007
1
1
1,043,899
C
T
Rare
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,synonymous_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
150,794
0.000007
0.000007
1
1
1,044,637
G
A
Rare
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,212
0.000007
0.000007
1
1
1,045,080
G
A
Common
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
136,582
151,990
0.898625
0.101375
15,408
1
1,046,078
A
G
Rare
gnomAD
downstream_gene_variant,missense_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,212
0.000007
0.000007
1
1
1,046,094
G
C
Rare
gnomAD
downstream_gene_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,226
0.000007
0.000007
1
1
1,046,201
G
A
Rare
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,synonymous_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,178
0.000007
0.000007
1
1
1,046,535
C
T
Rare
gnomAD
downstream_gene_variant,missense_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,026
0.000007
0.000007
1
1
1,046,551
A
G
Common
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,synonymous_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
121,546
151,638
0.801554
0.198446
30,092
1
1,046,754
C
G
Rare
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,074
0.000007
0.000007
1
1
1,046,780
A
C
Rare
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,104
0.000007
0.000007
1
1
1,046,824
C
T
Rare
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,synonymous_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,162
0.000007
0.000007
1
1
1,046,985
G
A
Rare
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,198
0.000007
0.000007
1
1
1,047,073
C
T
Rare
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,164
0.000007
0.000007
1
1
1,047,133
T
C
Common
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
138,877
152,132
0.912872
0.087128
13,255
1
1,047,464
G
C
Common
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
7,827
152,206
0.051424
0.051424
7,827
1
1,047,561
T
C
Common
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
120,768
152,128
0.793858
0.206142
31,360
1
1,047,614
T
C
Common
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,synonymous_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
124,694
152,140
0.8196
0.1804
27,446
1
1,047,712
C
T
Rare
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,220
0.000007
0.000007
1
1
1,048,446
G
A
Rare
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,194
0.000007
0.000007
1
1
1,048,653
C
T
Common
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
8,831
151,726
0.058204
0.058204
8,831
1
1,048,681
C
T
Common
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
8,502
150,936
0.056329
0.056329
8,502
1
1,048,722
G
A
Common
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
8,135
149,116
0.054555
0.054555
8,135
1
1,048,889
C
G
Rare
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,synonymous_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,882
0.000007
0.000007
1
1
1,048,922
T
C
Common
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,synonymous_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
76,215
151,176
0.504147
0.495853
74,961
1
1,049,338
C
T
Rare
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,synonymous_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,046
0.000007
0.000007
1
1
1,049,467
G
C
Common
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
8,999
152,058
0.059181
0.059181
8,999
1
1,049,508
A
G
Common
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
10,758
151,792
0.070873
0.070873
10,758