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
996,052
G
A
Rare
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
1
152,194
0.000007
0.000007
1
1
996,120
C
T
Common
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
25,548
151,968
0.168114
0.168114
25,548
1
996,128
T
A
Common
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
129,835
151,876
0.854875
0.145125
22,041
1
996,168
G
T
Common
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
27,334
151,796
0.180071
0.180071
27,334
1
997,604
G
A
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
152,178
0.000007
0.000007
1
1
997,663
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
151,838
0.000007
0.000007
1
1
997,752
G
C
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
152,156
0.000007
0.000007
1
1
997,995
T
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
152,174
0.000007
0.000007
1
1
998,410
G
A
Common
gnomAD
downstream_gene_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
75,966
152,006
0.499757
0.499757
75,966
1
998,427
G
T
Rare
gnomAD
TF_binding_site_variant,downstream_gene_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
998,671
C
T
Rare
gnomAD
downstream_gene_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
146,624
0.000007
0.000007
1
1
998,741
G
A
Common
gnomAD
TF_binding_site_variant,downstream_gene_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
26,403
151,236
0.174581
0.174581
26,403
1
999,235
G
C
Rare
gnomAD
missense_variant,non_coding_transcript_exon_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,942
0.000007
0.000007
1
1
999,842
C
A
Common
gnomAD
intron_variant,missense_variant,non_coding_transcript_exon_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
69,446
151,852
0.457327
0.457327
69,446
1
999,980
C
T
Rare
gnomAD
5_prime_UTR_variant,non_coding_transcript_exon_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,562
0.000007
0.000007
1
1
1,000,092
G
A
Rare
gnomAD
5_prime_UTR_variant,non_coding_transcript_exon_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,592
0.000007
0.000007
1
1
1,000,245
G
A
Rare
gnomAD
5_prime_UTR_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,900
0.000007
0.000007
1
1
1,000,291
C
G
Common
gnomAD
5_prime_UTR_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
26,207
151,946
0.172476
0.172476
26,207
1
1,000,506
C
A
Rare
gnomAD
5_prime_UTR_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,190
0.000007
0.000007
1
1
1,000,731
C
T
Common
gnomAD
5_prime_UTR_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
75,379
152,062
0.495712
0.495712
75,379
1
1,000,814
A
G
Common
gnomAD
5_prime_UTR_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
105,223
152,002
0.692247
0.307753
46,779
1
1,001,092
T
C
Rare
gnomAD
regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,218
0.000007
0.000007
1
1
1,001,256
G
C
Rare
gnomAD
5_prime_UTR_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,102
0.000007
0.000007
1
1
1,001,257
C
T
Rare
gnomAD
5_prime_UTR_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,000
0.000007
0.000007
1
1
1,001,333
G
T
Common
gnomAD
intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
13,493
151,522
0.08905
0.08905
13,493
1
1,001,551
C
G
Rare
gnomAD
intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,184
0.000007
0.000007
1
1
1,001,870
C
G
Common
gnomAD
TF_binding_site_variant,intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
27,792
152,118
0.1827
0.1827
27,792
1
1,002,067
C
T
Rare
gnomAD
intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,250
0.000007
0.000007
1
1
1,002,308
T
C
Common
gnomAD
TF_binding_site_variant,intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
141,100
151,892
0.92895
0.07105
10,792
1
1,002,629
A
G
Rare
gnomAD
intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
150,430
0.000007
0.000007
1
1
1,002,736
T
G
Common
gnomAD
intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
141,344
151,960
0.93014
0.06986
10,616
1
1,002,745
G
A
Common
gnomAD
intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
34,838
151,828
0.229457
0.229457
34,838
1
1,003,184
G
A
Rare
gnomAD
downstream_gene_variant,intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,102
0.000007
0.000007
1
1
1,003,449
T
C
Rare
gnomAD
downstream_gene_variant,intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,090
0.000007
0.000007
1
1
1,003,801
A
G
Rare
gnomAD
downstream_gene_variant,intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,004
0.000007
0.000007
1
1
1,004,716
C
T
Common
gnomAD
downstream_gene_variant,intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
75,234
151,724
0.495861
0.495861
75,234
1
1,005,151
C
T
Rare
gnomAD
downstream_gene_variant,intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,206
0.000007
0.000007
1
1
1,005,795
A
G
Rare
gnomAD
downstream_gene_variant,intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,576
0.000007
0.000007
1
1
1,005,904
C
T
Common
gnomAD
downstream_gene_variant,intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
52,905
151,890
0.348311
0.348311
52,905
1
1,005,954
G
A
Common
gnomAD
downstream_gene_variant,intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
52,324
151,894
0.344477
0.344477
52,324
1
1,006,317
C
T
Rare
gnomAD
downstream_gene_variant,intron_variant
null
null
null
null
null
null
null
null
null
1
152,208
0.000007
0.000007
1
1
1,006,744
C
T
Rare
gnomAD
downstream_gene_variant,intron_variant
null
null
null
null
null
null
null
null
null
1
152,226
0.000007
0.000007
1
1
1,007,025
C
A
Rare
gnomAD
downstream_gene_variant,intron_variant
null
null
null
null
null
null
null
null
null
1
152,208
0.000007
0.000007
1
1
1,007,325
A
G
Common
gnomAD
downstream_gene_variant,intron_variant
null
null
null
null
null
null
null
null
null
15,812
152,116
0.103947
0.103947
15,812
1
1,007,625
C
G
Rare
gnomAD
downstream_gene_variant,intron_variant
null
null
null
null
null
null
null
null
null
1
152,110
0.000007
0.000007
1
1
1,007,704
A
G
Rare
gnomAD
downstream_gene_variant,intron_variant
null
null
null
null
null
null
null
null
null
1
149,170
0.000007
0.000007
1
1
1,007,866
C
T
Rare
gnomAD
downstream_gene_variant,intron_variant
null
null
null
null
null
null
null
null
null
1
146,576
0.000007
0.000007
1
1
1,008,097
T
A
Rare
gnomAD
downstream_gene_variant,intron_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
1
152,220
0.000007
0.000007
1
1
1,008,307
G
C
Common
gnomAD
downstream_gene_variant,intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
51,969
151,848
0.342244
0.342244
51,969
1
1,008,527
C
G
Common
gnomAD
downstream_gene_variant,intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
123,827
151,090
0.819558
0.180442
27,263
1
1,008,588
C
T
Common
gnomAD
downstream_gene_variant,intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
71,983
151,488
0.475173
0.475173
71,983
1
1,008,604
C
T
Rare
gnomAD
downstream_gene_variant,intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,080
0.000007
0.000007
1
1
1,009,184
T
C
Common
gnomAD
downstream_gene_variant,intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
52,601
151,896
0.346296
0.346296
52,601
1
1,009,258
C
T
Rare
gnomAD
downstream_gene_variant,intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,168
0.000007
0.000007
1
1
1,009,716
C
T
Common
gnomAD
downstream_gene_variant,intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
125,678
151,360
0.830325
0.169675
25,682
1
1,009,731
C
T
Common
gnomAD
downstream_gene_variant,intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
132,234
151,480
0.872947
0.127053
19,246
1
1,010,720
G
A
Rare
gnomAD
downstream_gene_variant,intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
148,750
0.000007
0.000007
1
1
1,011,238
G
A
Rare
gnomAD
downstream_gene_variant,intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,090
0.000007
0.000007
1
1
1,011,363
A
G
Rare
gnomAD
downstream_gene_variant,intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,254
0.000007
0.000007
1
1
1,011,654
G
A
Common
gnomAD
downstream_gene_variant,intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
127,437
152,122
0.837729
0.162271
24,685
1
1,012,333
C
T
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,232
0.000007
0.000007
1
1
1,012,809
T
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
152,178
0.000007
0.000007
1
1
1,012,834
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
152,192
0.000007
0.000007
1
1
1,013,312
G
A
Common
gnomAD
intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
125,851
151,966
0.828152
0.171848
26,115
1
1,013,320
T
C
Rare
gnomAD
intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,192
0.000007
0.000007
1
1
1,013,541
T
C
Common
gnomAD
5_prime_UTR_variant,intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
136,681
152,066
0.898827
0.101173
15,385
1
1,013,855
G
A
Common
gnomAD
intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
136,143
152,102
0.895077
0.104923
15,959
1
1,014,040
C
T
Rare
gnomAD
regulatory_region_variant,synonymous_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,248
0.000007
0.000007
1
1
1,014,228
G
A
Common
gnomAD
missense_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
58,370
152,098
0.383766
0.383766
58,370
1
1,014,274
A
G
Common
gnomAD
regulatory_region_variant,synonymous_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
127,794
152,172
0.8398
0.1602
24,378
1
1,014,341
C
G
Rare
gnomAD
missense_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,246
0.000007
0.000007
1
1
1,014,863
A
C
Common
gnomAD
downstream_gene_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
55,021
151,828
0.36239
0.36239
55,021
1
1,015,096
G
A
Rare
gnomAD
downstream_gene_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,200
0.000007
0.000007
1
1
1,015,205
G
C
Rare
gnomAD
downstream_gene_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,236
0.000007
0.000007
1
1
1,015,297
T
C
Common
gnomAD
TF_binding_site_variant,downstream_gene_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
75,835
151,962
0.499039
0.499039
75,835
1
1,015,336
A
T
Common
gnomAD
downstream_gene_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
139,199
152,136
0.914964
0.085036
12,937
1
1,015,474
C
A
Rare
gnomAD
downstream_gene_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,150
0.000007
0.000007
1
1
1,015,756
C
T
Rare
gnomAD
downstream_gene_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,138
0.000007
0.000007
1
1
1,015,915
C
T
Common
gnomAD
downstream_gene_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
74,060
141,432
0.523644
0.476356
67,372
1
1,015,942
C
T
Common
gnomAD
downstream_gene_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
130,126
146,324
0.8893
0.1107
16,198
1
1,015,950
G
A
Common
gnomAD
downstream_gene_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
130,281
146,620
0.888562
0.111438
16,339
1
1,015,987
T
A
Rare
gnomAD
downstream_gene_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
150,410
0.000007
0.000007
1
1
1,016,184
A
G
Common
gnomAD
downstream_gene_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
59,318
146,868
0.403886
0.403886
59,318
1
1,016,623
G
A
Common
gnomAD
downstream_gene_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
51,197
151,910
0.337022
0.337022
51,197
1
1,017,048
G
A
Common
gnomAD
downstream_gene_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
68,421
150,866
0.453522
0.453522
68,421
1
1,017,409
C
T
Rare
gnomAD
downstream_gene_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,602
0.000007
0.000007
1
1
1,018,554
G
A
Rare
gnomAD
downstream_gene_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,236
0.000007
0.000007
1
1
1,019,043
C
G
Rare
gnomAD
downstream_gene_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,258
0.000007
0.000007
1
1
1,019,069
A
C
Rare
gnomAD
downstream_gene_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,160
0.000007
0.000007
1
1
1,019,397
C
A
Common
gnomAD
downstream_gene_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
67,180
151,766
0.442655
0.442655
67,180
1
1,019,970
G
T
Rare
gnomAD
regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
147,812
0.000007
0.000007
1
1
1,020,019
G
A
Rare
gnomAD
regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
144,318
0.000007
0.000007
1
1
1,020,217
G
T
Common
gnomAD
5_prime_UTR_variant,non_coding_transcript_exon_variant,regulatory_region_variant,synonymous_variant
null
null
null
null
null
null
null
null
null
46,469
151,260
0.307213
0.307213
46,469
1
1,020,440
G
A
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
1
151,960
0.000007
0.000007
1
1
1,020,697
C
T
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
44,592
151,738
0.293875
0.293875
44,592
1
1,021,143
G
A
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
1
152,240
0.000007
0.000007
1
1
1,021,472
C
T
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
74,625
152,052
0.490786
0.490786
74,625
1
1,021,530
G
A
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
1
152,242
0.000007
0.000007
1
1
1,021,740
G
C
Common
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
45,714
152,060
0.300631
0.300631
45,714
1
1,022,301
T
A
Rare
gnomAD
5_prime_UTR_variant,missense_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
1
152,164
0.000007
0.000007
1