chrom
stringclasses
23 values
pos
int64
12k
248M
ref
stringclasses
4 values
alt
stringclasses
4 values
pip
float64
0
1
maf
float64
0.01
0.5
consequence
stringclasses
16 values
label
bool
2 classes
tss_dist
int64
0
5.43M
exon_dist
int64
0
5.43M
match_group
stringlengths
13
39
1
690,060
A
C
0.994126
0.03876
intron_variant
true
3,406
3,406
intron_variant_0
1
722,408
G
C
0.002822
0.198113
non_coding_transcript_exon_variant
false
35,754
35,754
non_coding_transcript_exon_variant_77
1
769,579
C
T
0.006539
0.046264
non_coding_transcript_exon_variant
false
82,925
82,925
non_coding_transcript_exon_variant_7
1
841,166
A
G
1
0.243043
intron_variant
true
82,755
82,755
intron_variant_1
1
917,495
C
T
0.90595
0.420124
splice_polypyrimidine_tract_variant
true
6,426
6,426
splice_polypyrimidine_tract_variant_0
1
920,949
C
G
0.915184
0.169975
non_coding_transcript_exon_variant
true
2,972
2,972
non_coding_transcript_exon_variant_0
1
946,870
C
A
1
0.036384
non_coding_transcript_exon_variant
true
7,595
325
non_coding_transcript_exon_variant_1
1
954,496
C
G
0.996345
0.015265
non_coding_transcript_exon_variant
true
4,758
414
non_coding_transcript_exon_variant_2
1
958,339
G
A
0.955819
0.092703
non_coding_transcript_exon_variant
true
915
588
non_coding_transcript_exon_variant_3
1
973,443
G
A
0.99993
0.164754
intron_variant
true
67
55
intron_variant_2
1
973,693
C
T
0.994036
0.36869
intron_variant
true
181
53
intron_variant_3
1
975,555
G
A
0.906873
0.212625
3_prime_UTR_variant
true
2,043
0
3_prime_UTR_variant_0
1
999,842
C
A
0.999064
0.480507
missense_variant
true
137
0
missense_variant_0
1
1,042,813
G
A
1
0.148702
intron_variant
true
8,707
424
intron_variant_4
1
1,049,886
C
T
0.971982
0.475837
splice_polypyrimidine_tract_variant
true
15,780
15
splice_polypyrimidine_tract_variant_1
1
1,053,552
G
C
0.99861
0.210086
non_coding_transcript_exon_variant
true
19,446
59
non_coding_transcript_exon_variant_4
1
1,057,980
C
A
0.991586
0.489207
intergenic_variant
true
16,324
1,862
intergenic_variant_0
1
1,065,797
G
C
0.970337
0.311989
intron_variant
true
8,507
5,168
intron_variant_5
1
1,067,054
C
T
0.918921
0.420029
intron_variant
true
7,250
3,911
intron_variant_6
1
1,091,327
C
A
1
0.441883
synonymous_variant
true
845
0
synonymous_variant_0
1
1,092,879
C
T
0.913843
0.138781
intron_variant
true
66
66
intron_variant_7
1
1,101,987
G
A
0.006837
0.178571
intron_variant
false
4,138
3,967
intron_variant_215
1
1,104,437
A
G
0.006837
0.178571
non_coding_transcript_exon_variant
false
1,688
1,517
non_coding_transcript_exon_variant_64
1
1,105,560
A
C
0.006837
0.178571
intron_variant
false
565
394
intron_variant_8
1
1,145,540
G
A
0.965705
0.050943
intergenic_variant
true
28,338
28,338
intergenic_variant_1
1
1,172,462
G
C
0.989862
0.095881
downstream_gene_variant
true
1,416
1,416
downstream_gene_variant_0
1
1,179,830
G
A
0.943782
0.122671
5_prime_UTR_variant
true
133
0
5_prime_UTR_variant_0
1
1,182,895
C
T
0.999942
0.089351
synonymous_variant
true
3,198
0
synonymous_variant_1
1
1,217,733
G
A
0.999944
0.121531
synonymous_variant
true
3,580
0
synonymous_variant_2
1
1,218,703
C
G
0.999251
0.020186
non_coding_transcript_exon_variant
true
4,550
64
non_coding_transcript_exon_variant_5
1
1,222,977
A
G
0.008725
0.121224
intron_variant
false
5,617
265
intron_variant_150
1
1,227,792
T
C
0.008725
0.124353
intron_variant
false
802
674
intron_variant_90
1
1,231,507
T
C
1
0.176727
intron_variant
true
492
383
intron_variant_8
1
1,237,527
C
T
0.979284
0.042797
intergenic_variant
true
5,290
2,486
intergenic_variant_2
1
1,252,487
C
A
0.006667
0.077982
intergenic_variant
false
5,765
1,423
intergenic_variant_36
1
1,287,310
C
T
0.999926
0.046943
intron_variant
true
201
11
intron_variant_9
1
1,287,315
G
C
0.999994
0.069876
intron_variant
true
206
16
intron_variant_10
1
1,303,112
G
A
0.008426
0.131429
intron_variant
false
146
48
intron_variant_294
1
1,327,586
C
T
0.0034
0.123732
synonymous_variant
false
2,345
0
synonymous_variant_3
1
1,335,795
A
G
0.008914
0.040881
3_prime_UTR_variant
false
3,625
0
3_prime_UTR_variant_29
1
1,365,514
C
A
0.006787
0.042453
intergenic_variant
false
3,737
3,737
intergenic_variant_30
1
1,374,562
C
T
1
0.024259
non_coding_transcript_exon_variant
true
593
117
non_coding_transcript_exon_variant_6
1
1,374,801
A
G
0.992443
0.071937
splice_polypyrimidine_tract_variant
true
354
0
splice_polypyrimidine_tract_variant_2
1
1,397,612
A
G
0.959468
0.012422
intron_variant
true
1,342
619
intron_variant_11
1
1,398,056
C
A
1
0.354701
intron_variant
true
898
175
intron_variant_12
1
1,424,459
C
A
0.999999
0.048713
intergenic_variant
true
1,410
1,410
intergenic_variant_3
1
1,451,550
C
T
0.981263
0.014785
intron_variant
true
1,636
494
intron_variant_13
1
1,461,719
G
A
0.978513
0.053512
intron_variant
true
10,044
802
intron_variant_14
1
1,490,122
A
G
0.99868
0.047321
non_coding_transcript_exon_variant
true
18,338
133
non_coding_transcript_exon_variant_7
1
1,512,287
A
G
0.006865
0.011396
missense_variant
false
112
0
missense_variant_29
1
1,609,890
C
T
0.940244
0.120433
intergenic_variant
true
5,608
5,608
intergenic_variant_4
1
1,619,986
T
C
0.931465
0.262361
intron_variant
true
2,426
2,271
intron_variant_15
1
1,624,723
C
T
0.922414
0.174702
intron_variant
true
921
70
intron_variant_16
1
1,625,951
G
A
0.999233
0.388854
non_coding_transcript_exon_variant
true
2,149
298
non_coding_transcript_exon_variant_8
1
1,627,156
G
A
0.990352
0.121787
synonymous_variant
true
1,331
0
synonymous_variant_3
1
1,629,332
G
T
0.976229
0.319328
intron_variant
true
843
21
intron_variant_17
1
1,677,707
C
T
0.9995
0.122004
intron_variant
true
15,015
861
intron_variant_18
1
1,688,409
C
G
0.998277
0.397233
intron_variant
true
4,313
2,565
intron_variant_19
1
1,689,221
G
A
0.999564
0.034989
intron_variant
true
3,501
1,753
intron_variant_20
1
1,689,465
A
G
0.954751
0.383309
intron_variant
true
3,257
1,509
intron_variant_21
1
1,704,310
C
A
0.99893
0.455333
synonymous_variant
true
11,515
0
synonymous_variant_4
1
1,714,932
G
T
0.998758
0.45377
intron_variant
true
7,897
1,412
intron_variant_22
1
1,730,405
G
C
0.003169
0.482269
non_coding_transcript_exon_variant
false
6,048
6,048
non_coding_transcript_exon_variant_74
1
1,744,499
C
T
0.967284
0.432353
non_coding_transcript_exon_variant
true
12,767
6,731
non_coding_transcript_exon_variant_9
1
1,756,043
G
T
0.002952
0.433556
non_coding_transcript_exon_variant
false
1,223
213
non_coding_transcript_exon_variant_9
1
1,756,945
G
A
0.998927
0.070958
non_coding_transcript_exon_variant
true
321
63
non_coding_transcript_exon_variant_10
1
1,825,898
G
A
0.982347
0.010448
intron_variant
true
6,385
399
intron_variant_23
1
1,916,092
C
T
0.008632
0.070492
non_coding_transcript_exon_variant
false
832
347
non_coding_transcript_exon_variant_10
1
1,918,989
A
G
0.999994
0.451465
3_prime_UTR_variant
true
192
54
3_prime_UTR_variant_1
1
1,944,419
C
G
0.008412
0.462857
missense_variant
false
25,140
0
missense_variant_38
1
1,958,061
C
T
0.979007
0.071225
intron_variant
true
32,866
1,057
intron_variant_24
1
2,065,711
G
A
0.987011
0.239726
intron_variant
true
7,749
6,120
intron_variant_25
1
2,107,385
G
A
0.999994
0.480209
intron_variant
true
2,646
2,490
intron_variant_26
1
2,145,827
G
A
0.005624
0.086124
intron_variant
false
10,837
198
intron_variant_321
1
2,146,811
T
G
0.955567
0.021298
intron_variant
true
11,821
703
intron_variant_27
1
2,156,665
A
G
0.002861
0.243207
non_coding_transcript_exon_variant
false
21,675
573
non_coding_transcript_exon_variant_62
1
2,181,827
G
A
0.905796
0.107332
splice_polypyrimidine_tract_variant
true
12,919
2,632
splice_polypyrimidine_tract_variant_3
1
2,189,679
C
T
1
0.368579
3_prime_UTR_variant
true
5,067
0
3_prime_UTR_variant_2
1
2,207,240
A
G
0.005074
0.406832
intron_variant
false
12,465
12,465
intron_variant_41
1
2,377,643
T
G
0.98177
0.465839
3_prime_UTR_variant
true
10,692
0
3_prime_UTR_variant_3
1
2,379,983
T
C
0.915597
0.017143
intron_variant
true
8,352
756
intron_variant_28
1
2,384,278
A
G
0.991135
0.43325
intron_variant
true
4,057
698
intron_variant_29
1
2,392,128
T
C
0.997265
0.435031
intron_variant
true
238
170
intron_variant_30
1
2,394,570
G
A
1
0.43277
5_prime_UTR_variant
true
565
0
5_prime_UTR_variant_1
1
2,396,376
C
T
0.999923
0.426638
intron_variant
true
2,371
505
intron_variant_31
1
2,479,350
C
T
0.968757
0.39743
non_coding_transcript_exon_variant
true
536
382
non_coding_transcript_exon_variant_11
1
2,564,775
C
T
0.004505
0.472826
intron_variant
false
4,093
276
intron_variant_286
1
2,567,179
G
T
0.00609
0.455163
intron_variant
false
6,497
1,797
intron_variant_22
1
2,568,341
G
A
0.006588
0.455163
intron_variant
false
7,659
2,959
intron_variant_233
1
2,800,059
C
T
0.008263
0.341761
missense_variant
false
1,632
0
missense_variant_47
1
3,022,133
T
G
0.008517
0.158951
synonymous_variant
false
666
0
synonymous_variant_25
1
3,028,107
T
A
0.007099
0.179443
intergenic_variant
false
6,640
5,204
intergenic_variant_67
1
3,060,252
T
C
0.009629
0.203833
non_coding_transcript_exon_variant
false
8,914
8,914
non_coding_transcript_exon_variant_104
1
3,061,479
G
C
0.999398
0.41753
non_coding_transcript_exon_variant
true
7,687
7,687
non_coding_transcript_exon_variant_12
1
3,063,362
C
T
1
0.016397
non_coding_transcript_exon_variant
true
5,804
5,804
non_coding_transcript_exon_variant_13
1
3,064,014
C
T
0.006839
0.143728
non_coding_transcript_exon_variant
false
5,152
5,152
non_coding_transcript_exon_variant_48
1
3,096,416
A
G
0.967549
0.22093
intron_variant
true
27,205
27,120
intron_variant_32
1
3,467,334
A
G
0.999232
0.098661
synonymous_variant
true
363
0
synonymous_variant_5
1
3,478,610
C
A
0.00963
0.06383
splice_region_variant
false
6,986
0
splice_region_variant_11
1
3,496,950
C
G
1
0.045882
intron_variant
true
233
36
intron_variant_33

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