chrom
stringclasses
19 values
pos
int64
90.7k
249M
ref
stringclasses
4 values
alt
stringclasses
4 values
OMIM
stringclasses
113 values
consequence
stringclasses
12 values
label
bool
2 classes
tss_dist
int64
0
372k
match_group
stringclasses
338 values
3
39,149,538
A
G
null
non_coding_transcript_exon_variant
false
4,052
non_coding_transcript_exon_variant_42
3
39,149,552
T
C
null
non_coding_transcript_exon_variant
false
4,038
non_coding_transcript_exon_variant_43
3
39,286,185
C
T
null
non_coding_transcript_exon_variant
false
4,449
non_coding_transcript_exon_variant_33
3
39,286,293
G
A
null
non_coding_transcript_exon_variant
false
4,557
non_coding_transcript_exon_variant_31
3
39,286,780
C
G
null
non_coding_transcript_exon_variant
false
5,044
non_coding_transcript_exon_variant_35
3
40,313,822
G
A
null
non_coding_transcript_exon_variant
false
4,114
non_coding_transcript_exon_variant_41
3
40,314,125
C
T
null
non_coding_transcript_exon_variant
false
4,417
non_coding_transcript_exon_variant_33
3
40,314,174
A
G
null
non_coding_transcript_exon_variant
false
4,466
non_coding_transcript_exon_variant_33
3
40,453,199
T
C
null
non_coding_transcript_exon_variant
false
4,092
non_coding_transcript_exon_variant_41
3
40,453,318
T
G
null
non_coding_transcript_exon_variant
false
3,973
non_coding_transcript_exon_variant_44
3
41,237,949
A
G
null
non_coding_transcript_exon_variant
false
4,527
non_coding_transcript_exon_variant_31
3
42,506,725
G
A
null
non_coding_transcript_exon_variant
false
4,081
non_coding_transcript_exon_variant_42
3
42,770,415
G
A
null
PLS
false
2,837
PLS_48
3
42,770,527
T
C
null
PLS
false
2,725
PLS_48
3
44,338,768
T
C
null
5_prime_UTR_variant
false
1
5_prime_UTR_variant_87
3
44,581,209
C
T
null
PLS
false
2,985
PLS_48
3
44,761,638
G
A
null
PLS
false
18
PLS_46
3
45,734,772
A
G
null
non_coding_transcript_exon_variant
false
4,168
non_coding_transcript_exon_variant_38
3
45,735,408
A
G
null
non_coding_transcript_exon_variant
false
4,804
non_coding_transcript_exon_variant_26
3
45,735,621
G
A
null
non_coding_transcript_exon_variant
false
5,017
non_coding_transcript_exon_variant_30
3
46,000,921
A
T
null
non_coding_transcript_exon_variant
false
5,096
non_coding_transcript_exon_variant_39
3
46,023,126
G
C
null
PLS
false
4,356
PLS_47
3
46,023,134
C
G
null
PLS
false
4,348
PLS_47
3
46,090,585
C
T
null
non_coding_transcript_exon_variant
false
4,759
non_coding_transcript_exon_variant_27
3
46,090,789
C
T
null
non_coding_transcript_exon_variant
false
4,963
non_coding_transcript_exon_variant_24
3
46,090,809
A
C
null
non_coding_transcript_exon_variant
false
4,983
non_coding_transcript_exon_variant_25
3
46,090,983
C
T
null
non_coding_transcript_exon_variant
false
5,157
non_coding_transcript_exon_variant_43
3
46,412,503
T
C
null
non_coding_transcript_exon_variant
false
4,621
non_coding_transcript_exon_variant_30
3
46,412,859
G
C
null
non_coding_transcript_exon_variant
false
4,977
non_coding_transcript_exon_variant_24
3
46,562,461
C
T
null
non_coding_transcript_exon_variant
false
3,840
non_coding_transcript_exon_variant_48
3
46,693,690
G
T
null
5_prime_UTR_variant
false
10
5_prime_UTR_variant_86
3
48,301,392
C
T
null
5_prime_UTR_variant
false
1
5_prime_UTR_variant_87
3
48,595,347
G
A
MIM 226600
PLS
true
17
PLS_46
3
48,604,538
A
G
null
non_coding_transcript_exon_variant
false
5,107
non_coding_transcript_exon_variant_40
3
49,128,636
C
T
null
non_coding_transcript_exon_variant
false
4,413
non_coding_transcript_exon_variant_33
3
49,358,324
G
A
null
5_prime_UTR_variant
false
0
5_prime_UTR_variant_87
3
49,874,594
C
T
null
non_coding_transcript_exon_variant
false
4,658
non_coding_transcript_exon_variant_29
3
49,899,282
G
A
null
PLS
false
3,208
PLS_47
3
50,094,258
G
A
null
non_coding_transcript_exon_variant
false
3,887
non_coding_transcript_exon_variant_47
3
50,298,861
A
G
null
5_prime_UTR_variant
false
1
5_prime_UTR_variant_87
3
50,299,230
T
C
null
5_prime_UTR_variant
false
1
5_prime_UTR_variant_87
3
50,670,456
T
C
null
non_coding_transcript_exon_variant
false
4,470
non_coding_transcript_exon_variant_32
3
50,670,738
T
C
null
non_coding_transcript_exon_variant
false
4,188
non_coding_transcript_exon_variant_38
3
52,194,134
A
T
null
non_coding_transcript_exon_variant
false
3,951
non_coding_transcript_exon_variant_45
3
52,848,428
A
G
null
non_coding_transcript_exon_variant
false
4,270
non_coding_transcript_exon_variant_36
3
52,848,479
G
A
null
non_coding_transcript_exon_variant
false
4,219
non_coding_transcript_exon_variant_37
3
53,882,103
A
G
null
5_prime_UTR_variant
false
48
5_prime_UTR_variant_85
3
56,561,125
T
C
null
non_coding_transcript_exon_variant
false
3,936
non_coding_transcript_exon_variant_45
3
57,297,199
G
A
null
non_coding_transcript_exon_variant
false
4,513
non_coding_transcript_exon_variant_32
3
58,144,872
T
C
null
non_coding_transcript_exon_variant
false
4,993
non_coding_transcript_exon_variant_29
3
58,145,788
C
T
null
non_coding_transcript_exon_variant
false
4,077
non_coding_transcript_exon_variant_42
3
58,428,655
C
T
null
non_coding_transcript_exon_variant
false
5,158
non_coding_transcript_exon_variant_43
3
58,573,480
T
G
null
non_coding_transcript_exon_variant
false
3,907
non_coding_transcript_exon_variant_46
3
62,324,026
G
A
null
non_coding_transcript_exon_variant
false
4,304
non_coding_transcript_exon_variant_35
3
64,014,147
A
C
null
non_coding_transcript_exon_variant
false
5,186
non_coding_transcript_exon_variant_44
3
64,014,788
T
C
null
non_coding_transcript_exon_variant
false
4,545
non_coding_transcript_exon_variant_31
3
64,684,729
A
C
null
PLS
false
2,949
PLS_48
3
69,353,650
C
T
null
5_prime_UTR_variant
false
46
5_prime_UTR_variant_85
3
69,536,183
A
C
null
non_coding_transcript_exon_variant
false
5,156
non_coding_transcript_exon_variant_43
3
69,536,201
G
A
null
non_coding_transcript_exon_variant
false
5,138
non_coding_transcript_exon_variant_42
3
69,536,248
C
T
null
non_coding_transcript_exon_variant
false
5,091
non_coding_transcript_exon_variant_39
3
69,536,402
C
T
null
non_coding_transcript_exon_variant
false
4,937
non_coding_transcript_exon_variant_24
3
73,556,912
T
G
null
non_coding_transcript_exon_variant
false
4,705
non_coding_transcript_exon_variant_28
3
75,668,454
A
C
null
non_coding_transcript_exon_variant
false
4,123
non_coding_transcript_exon_variant_40
3
75,669,098
C
A
null
non_coding_transcript_exon_variant
false
4,767
non_coding_transcript_exon_variant_27
3
75,669,197
C
T
null
non_coding_transcript_exon_variant
false
4,866
non_coding_transcript_exon_variant_25
3
75,669,229
C
T
null
non_coding_transcript_exon_variant
false
4,898
non_coding_transcript_exon_variant_25
3
75,669,368
G
A
null
non_coding_transcript_exon_variant
false
5,037
non_coding_transcript_exon_variant_35
3
75,669,402
G
A
null
non_coding_transcript_exon_variant
false
5,071
non_coding_transcript_exon_variant_36
3
75,669,411
G
A
null
non_coding_transcript_exon_variant
false
5,080
non_coding_transcript_exon_variant_36
3
75,669,462
G
A
null
non_coding_transcript_exon_variant
false
5,131
non_coding_transcript_exon_variant_42
3
75,669,518
C
A
null
non_coding_transcript_exon_variant
false
5,187
non_coding_transcript_exon_variant_44
3
75,670,191
C
T
null
PLS
false
5,860
PLS_48
3
88,343,278
T
C
null
non_coding_transcript_exon_variant
false
4,821
non_coding_transcript_exon_variant_26
3
98,035,303
G
A
null
5_prime_UTR_variant
false
11
5_prime_UTR_variant_86
3
98,264,273
A
G
null
5_prime_UTR_variant
false
11
5_prime_UTR_variant_86
3
100,709,274
G
A
null
PLS
false
20
PLS_46
3
101,337,394
A
C
null
non_coding_transcript_exon_variant
false
4,124
non_coding_transcript_exon_variant_40
3
101,785,780
A
C
null
non_coding_transcript_exon_variant
false
4,073
non_coding_transcript_exon_variant_42
3
101,785,830
G
A
null
non_coding_transcript_exon_variant
false
4,123
non_coding_transcript_exon_variant_40
3
101,785,973
C
T
null
non_coding_transcript_exon_variant
false
4,266
non_coding_transcript_exon_variant_37
3
101,786,624
A
G
null
non_coding_transcript_exon_variant
false
4,917
non_coding_transcript_exon_variant_25
3
101,786,663
T
C
null
non_coding_transcript_exon_variant
false
4,956
non_coding_transcript_exon_variant_24
3
107,382,074
C
G
null
non_coding_transcript_exon_variant
false
4,634
non_coding_transcript_exon_variant_30
3
108,054,148
T
A
null
non_coding_transcript_exon_variant
false
4,212
non_coding_transcript_exon_variant_38
3
108,218,439
A
G
null
non_coding_transcript_exon_variant
false
3,935
non_coding_transcript_exon_variant_45
3
108,218,513
C
T
null
non_coding_transcript_exon_variant
false
3,861
non_coding_transcript_exon_variant_48
3
109,332,133
T
C
null
non_coding_transcript_exon_variant
false
4,297
non_coding_transcript_exon_variant_36
3
111,859,277
C
T
null
5_prime_UTR_variant
false
11
5_prime_UTR_variant_86
3
112,128,837
G
A
null
non_coding_transcript_exon_variant
false
4,387
non_coding_transcript_exon_variant_34
3
112,129,138
A
G
null
non_coding_transcript_exon_variant
false
4,086
non_coding_transcript_exon_variant_41
3
112,327,619
G
A
null
non_coding_transcript_exon_variant
false
4,727
non_coding_transcript_exon_variant_28
3
112,641,192
T
C
null
5_prime_UTR_variant
false
48
5_prime_UTR_variant_85
3
113,746,012
A
G
null
5_prime_UTR_variant
false
46
5_prime_UTR_variant_85
3
114,077,938
C
T
null
non_coding_transcript_exon_variant
false
4,830
non_coding_transcript_exon_variant_26
3
119,146,150
A
G
null
PLS
false
14
PLS_46
3
119,298,535
A
T
null
PLS
false
4,151
PLS_47
3
119,298,851
A
G
null
non_coding_transcript_exon_variant
false
4,467
non_coding_transcript_exon_variant_32
3
119,463,684
T
C
null
PLS
false
18
PLS_46
3
119,703,087
A
G
null
5_prime_UTR_variant
false
10
5_prime_UTR_variant_86