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
830,725
T
A
Common
gnomAD
TF_binding_site_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
94,288
144,594
0.652088
0.347912
50,306
1
831,401
G
A
Rare
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,776
0.000007
0.000007
1
1
831,868
A
G
Rare
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,850
0.000007
0.000007
1
1
832,370
G
T
Rare
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,682
0.000007
0.000007
1
1
832,526
T
G
Rare
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,750
0.000007
0.000007
1
1
832,664
A
G
Rare
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,722
0.000007
0.000007
1
1
832,796
T
G
Rare
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
150,180
0.000007
0.000007
1
1
833,068
G
A
Common
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
17,892
151,440
0.118146
0.118146
17,892
1
833,178
C
T
Rare
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
151,796
0.000007
0.000007
1
1
833,278
G
C
Rare
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
151,730
0.000007
0.000007
1
1
833,843
C
G
Common
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
30,006
151,948
0.197475
0.197475
30,006
1
834,765
T
C
Rare
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,232
0.000007
0.000007
1
1
835,506
G
A
Common
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
16,109
147,350
0.109325
0.109325
16,109
1
835,581
G
A
Rare
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
149,638
0.000007
0.000007
1
1
835,837
A
G
Rare
gnomAD
intron_variant&non_coding_transcript_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
1
151,464
0.000007
0.000007
1
1
835,882
T
G
Rare
gnomAD
intron_variant&non_coding_transcript_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
1
151,854
0.000007
0.000007
1
1
836,030
C
T
Common
gnomAD
intron_variant&non_coding_transcript_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
93,631
148,096
0.632232
0.367768
54,465
1
836,055
A
G
Rare
gnomAD
intron_variant&non_coding_transcript_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
1
152,058
0.000007
0.000007
1
1
836,443
T
C
Common
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
113,183
149,254
0.758325
0.241675
36,071
1
836,451
T
G
Rare
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,224
0.000007
0.000007
1
1
836,587
G
A
Common
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
32,709
152,122
0.215018
0.215018
32,709
1
836,697
T
C
Rare
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,224
0.000007
0.000007
1
1
838,486
C
T
Rare
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,200
0.000007
0.000007
1
1
838,837
C
T
Rare
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,016
0.000007
0.000007
1
1
839,729
A
C
Rare
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,180
0.000007
0.000007
1
1
839,801
A
G
Common
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
33,832
145,922
0.23185
0.23185
33,832
1
840,279
A
G
Common
gnomAD
intron_variant&non_coding_transcript_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
112,775
151,602
0.743889
0.256111
38,827
1
840,617
G
A
Rare
gnomAD
intron_variant&non_coding_transcript_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
1
152,120
0.000007
0.000007
1
1
840,787
T
C
Rare
gnomAD
intron_variant&non_coding_transcript_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
1
152,252
0.000007
0.000007
1
1
841,166
A
G
Common
gnomAD
intron_variant&non_coding_transcript_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
26,214
152,130
0.172313
0.172313
26,214
1
841,742
A
T
Common
gnomAD
intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
112,973
151,892
0.743772
0.256228
38,919
1
841,852
C
T
Common
gnomAD
intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
10,540
152,164
0.069267
0.069267
10,540
1
843,365
A
G
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
32,728
151,916
0.215435
0.215435
32,728
1
843,419
C
T
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
1
152,142
0.000007
0.000007
1
1
843,451
C
G
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
1
152,158
0.000007
0.000007
1
1
843,532
T
G
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
1
152,240
0.000007
0.000007
1
1
843,942
A
G
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
34,768
152,020
0.228707
0.228707
34,768
1
844,031
T
G
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
1
152,192
0.000007
0.000007
1
1
844,165
G
T
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
1
152,150
0.000007
0.000007
1
1
845,405
T
A
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
107,139
151,942
0.705131
0.294869
44,803
1
845,826
G
A
Rare
gnomAD
TF_binding_site_variant,downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
1
152,172
0.000007
0.000007
1
1
845,900
A
G
Rare
gnomAD
TF_binding_site_variant,downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
1
152,202
0.000007
0.000007
1
1
846,196
C
G
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
1
152,142
0.000007
0.000007
1
1
846,465
A
G
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
13,754
151,978
0.0905
0.0905
13,754
1
846,990
G
C
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,182
0.000007
0.000007
1
1
847,127
C
T
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,174
0.000007
0.000007
1
1
847,601
C
T
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
40,322
151,874
0.265496
0.265496
40,322
1
847,867
G
A
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,070
0.000007
0.000007
1
1
847,938
A
G
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
28,792
151,820
0.189646
0.189646
28,792
1
848,130
T
C
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,200
0.000007
0.000007
1
1
848,534
A
G
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,224
0.000007
0.000007
1
1
848,730
A
G
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,136
0.000007
0.000007
1
1
849,540
G
C
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,170
0.000007
0.000007
1
1
849,670
G
A
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
101,610
151,980
0.668575
0.331425
50,370
1
849,848
A
G
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,222
0.000007
0.000007
1
1
850,005
G
A
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,240
0.000007
0.000007
1
1
850,256
G
A
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,228
0.000007
0.000007
1
1
850,417
A
G
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,180
0.000007
0.000007
1
1
850,609
T
C
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
101,574
151,930
0.668558
0.331442
50,356
1
850,867
G
A
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
108,046
143,342
0.753764
0.246236
35,296
1
851,013
A
G
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,878
0.000007
0.000007
1
1
851,866
C
T
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
1
149,770
0.000007
0.000007
1
1
851,882
C
G
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
111,853
148,874
0.751327
0.248673
37,021
1
851,941
A
G
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
1
152,112
0.000007
0.000007
1
1
852,019
G
T
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant,splice_region_variant&intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
103,081
151,292
0.681338
0.318662
48,211
1
852,305
G
T
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
98,494
150,646
0.653811
0.346189
52,152
1
852,375
A
T
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
1
152,226
0.000007
0.000007
1
1
852,464
C
T
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
104,098
151,860
0.685487
0.314513
47,762
1
853,333
T
C
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
98,840
148,706
0.664667
0.335333
49,866
1
853,968
G
A
Rare
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
1
152,210
0.000007
0.000007
1
1
854,291
C
T
Rare
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
1
152,156
0.000007
0.000007
1
1
854,477
G
C
Rare
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
1
152,210
0.000007
0.000007
1
1
854,618
C
T
Rare
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
1
152,146
0.000007
0.000007
1
1
854,632
A
T
Rare
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
1
152,176
0.000007
0.000007
1
1
855,085
G
A
Common
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
23,853
152,060
0.156866
0.156866
23,853
1
855,263
T
G
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,180
0.000007
0.000007
1
1
856,146
G
T
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,140
0.000007
0.000007
1
1
856,432
C
T
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,238
0.000007
0.000007
1
1
856,473
G
A
Common
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
12,028
151,864
0.079202
0.079202
12,028
1
856,628
C
G
Rare
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,184
0.000007
0.000007
1
1
856,689
C
G
Rare
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,190
0.000007
0.000007
1
1
856,883
A
G
Common
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
125,694
151,036
0.832212
0.167788
25,342
1
857,092
G
A
Rare
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,210
0.000007
0.000007
1
1
858,414
C
T
Rare
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,058
0.000007
0.000007
1
1
858,441
C
G
Rare
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,886
0.000007
0.000007
1
1
858,952
G
A
Common
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
14,398
152,094
0.094665
0.094665
14,398
1
859,752
T
C
Rare
gnomAD
downstream_gene_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,224
0.000007
0.000007
1
1
859,767
A
G
Rare
gnomAD
downstream_gene_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,188
0.000007
0.000007
1
1
860,034
T
A
Common
gnomAD
downstream_gene_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
11,572
151,796
0.076234
0.076234
11,572
1
860,608
C
T
Common
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
33,016
143,124
0.230681
0.230681
33,016
1
860,816
C
G
Rare
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
1
152,128
0.000007
0.000007
1
1
861,347
G
T
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
108,930
143,374
0.759761
0.240239
34,444
1
861,395
T
C
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
20,199
149,770
0.134867
0.134867
20,199
1
861,468
A
T
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
19,484
144,710
0.134642
0.134642
19,484
1
861,482
A
G
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
151,890
0.000007
0.000007
1
1
861,812
A
G
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,248
0.000007
0.000007
1
1
861,822
G
A
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,236
0.000007
0.000007
1
1
862,060
T
C
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
27,191
150,940
0.180144
0.180144
27,191
1
862,646
C
T
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
135,958
152,012
0.89439
0.10561
16,054
1
863,020
A
G
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
55,115
151,868
0.362914
0.362914
55,115