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
1
234,479,175
G
T
null
5_prime_UTR_variant
false
3
5_prime_UTR_variant_5
1
236,518,450
G
A
null
5_prime_UTR_variant
false
148
5_prime_UTR_variant_7
1
244,729,801
T
C
null
3_prime_UTR_variant
false
1,213
3_prime_UTR_variant_0
1
244,862,390
A
T
null
5_prime_UTR_variant
false
3
5_prime_UTR_variant_5
1
246,417,381
G
C
null
5_prime_UTR_variant
false
27
5_prime_UTR_variant_1
1
247,824,147
A
G
null
PLS
false
27
PLS_1
1
247,877,900
C
A
null
3_prime_UTR_variant
false
17,686
3_prime_UTR_variant_5
1
248,444,298
T
C
null
3_prime_UTR_variant
false
1,213
3_prime_UTR_variant_0
1
248,527,138
G
A
null
3_prime_UTR_variant
false
17,601
3_prime_UTR_variant_5
1
248,591,989
A
G
null
3_prime_UTR_variant
false
1,809
3_prime_UTR_variant_1
2
5,718,743
A
G
null
non_coding_transcript_exon_variant
false
26,358
non_coding_transcript_exon_variant_17
2
5,718,745
C
T
null
non_coding_transcript_exon_variant
false
26,360
non_coding_transcript_exon_variant_17
2
5,718,786
G
T
null
non_coding_transcript_exon_variant
false
26,401
non_coding_transcript_exon_variant_18
2
5,719,132
G
A
null
non_coding_transcript_exon_variant
false
26,747
non_coding_transcript_exon_variant_22
2
10,330,162
T
C
null
PLS
false
0
PLS_41
2
10,448,426
C
G
null
PLS
false
98
PLS_37
2
15,302,997
T
C
null
non_coding_transcript_exon_variant
false
26,027
non_coding_transcript_exon_variant_11
2
17,878,645
T
C
null
PLS
false
21
PLS_38
2
19,876,242
A
T
null
non_coding_transcript_exon_variant
false
25,398
non_coding_transcript_exon_variant_15
2
23,616,837
C
A
null
non_coding_transcript_exon_variant
false
25,554
non_coding_transcript_exon_variant_13
2
23,617,167
G
A
null
non_coding_transcript_exon_variant
false
25,224
non_coding_transcript_exon_variant_19
2
23,668,043
G
A
null
non_coding_transcript_exon_variant
false
25,650
non_coding_transcript_exon_variant_10
2
23,668,505
C
G
null
non_coding_transcript_exon_variant
false
26,112
non_coding_transcript_exon_variant_13
2
23,668,563
G
A
null
non_coding_transcript_exon_variant
false
26,170
non_coding_transcript_exon_variant_14
2
23,668,670
C
T
null
non_coding_transcript_exon_variant
false
26,277
non_coding_transcript_exon_variant_16
2
23,668,681
G
A
null
non_coding_transcript_exon_variant
false
26,288
non_coding_transcript_exon_variant_16
2
23,668,825
G
T
null
non_coding_transcript_exon_variant
false
26,432
non_coding_transcript_exon_variant_18
2
23,668,889
G
A
null
non_coding_transcript_exon_variant
false
26,496
non_coding_transcript_exon_variant_19
2
23,668,996
T
C
null
non_coding_transcript_exon_variant
false
26,603
non_coding_transcript_exon_variant_20
2
23,901,076
A
G
null
non_coding_transcript_exon_variant
false
25,988
non_coding_transcript_exon_variant_10
2
24,210,068
C
T
null
non_coding_transcript_exon_variant
false
26,525
non_coding_transcript_exon_variant_20
2
25,164,783
G
T
MIM 609734
5_prime_UTR_variant
true
3,787
5_prime_UTR_variant_81
2
27,380,806
G
A
null
PLS
false
15
PLS_39
2
29,047,957
C
T
null
non_coding_transcript_exon_variant
false
26,565
non_coding_transcript_exon_variant_20
2
29,048,023
T
C
null
non_coding_transcript_exon_variant
false
26,499
non_coding_transcript_exon_variant_19
2
29,048,165
C
A
null
non_coding_transcript_exon_variant
false
26,357
non_coding_transcript_exon_variant_17
2
29,048,585
C
T
null
non_coding_transcript_exon_variant
false
25,937
non_coding_transcript_exon_variant_9
2
29,048,710
G
A
null
non_coding_transcript_exon_variant
false
25,812
non_coding_transcript_exon_variant_8
2
29,048,843
T
A
null
non_coding_transcript_exon_variant
false
25,679
non_coding_transcript_exon_variant_9
2
29,049,176
G
T
null
non_coding_transcript_exon_variant
false
25,346
non_coding_transcript_exon_variant_17
2
29,049,405
C
T
null
non_coding_transcript_exon_variant
false
25,117
non_coding_transcript_exon_variant_21
2
29,049,432
C
T
null
non_coding_transcript_exon_variant
false
25,090
non_coding_transcript_exon_variant_21
2
29,157,527
C
G
null
non_coding_transcript_exon_variant
false
26,785
non_coding_transcript_exon_variant_22
2
31,580,962
C
G
null
PLS
false
23
PLS_39
2
33,134,390
C
T
null
PLS
false
15
PLS_39
2
33,539,434
T
C
null
non_coding_transcript_exon_variant
false
25,558
non_coding_transcript_exon_variant_13
2
33,539,436
C
G
null
non_coding_transcript_exon_variant
false
25,560
non_coding_transcript_exon_variant_12
2
33,539,533
G
T
null
non_coding_transcript_exon_variant
false
25,657
non_coding_transcript_exon_variant_9
2
33,539,650
C
T
null
non_coding_transcript_exon_variant
false
25,774
non_coding_transcript_exon_variant_8
2
33,539,797
G
A
null
non_coding_transcript_exon_variant
false
25,921
non_coding_transcript_exon_variant_9
2
33,539,888
A
T
null
non_coding_transcript_exon_variant
false
26,012
non_coding_transcript_exon_variant_11
2
36,555,513
G
A
null
non_coding_transcript_exon_variant
false
25,813
non_coding_transcript_exon_variant_8
2
36,594,468
C
T
null
5_prime_UTR_variant
false
3,456
5_prime_UTR_variant_81
2
42,143,315
T
C
null
non_coding_transcript_exon_variant
false
26,037
non_coding_transcript_exon_variant_11
2
44,967,150
G
A
null
non_coding_transcript_exon_variant
false
25,447
non_coding_transcript_exon_variant_15
2
46,568,936
A
G
null
non_coding_transcript_exon_variant
false
25,535
non_coding_transcript_exon_variant_13
2
47,402,967
G
C
MIM 120435
PLS
true
99
PLS_37
2
48,340,825
C
G
null
non_coding_transcript_exon_variant
false
26,142
non_coding_transcript_exon_variant_13
2
48,440,744
T
C
null
PLS
false
21
PLS_38
2
53,767,792
G
A
null
PLS
false
11
PLS_40
2
53,813,267
A
G
null
non_coding_transcript_exon_variant
false
26,144
non_coding_transcript_exon_variant_13
2
55,419,625
T
C
null
5_prime_UTR_variant
false
11
5_prime_UTR_variant_82
2
63,593,264
C
T
null
5_prime_UTR_variant
false
4,112
5_prime_UTR_variant_81
2
64,144,435
A
G
null
PLS
false
14
PLS_39
2
68,365,183
A
C
null
PLS
false
98
PLS_37
2
70,293,743
C
T
null
PLS
false
2
PLS_41
2
70,302,110
T
C
null
PLS
false
19
PLS_38
2
70,900,477
G
A
null
PLS
false
98
PLS_37
2
70,900,566
G
T
null
PLS
false
9
PLS_40
2
70,935,800
A
G
null
PLS
false
99
PLS_37
2
71,130,287
C
A
null
PLS
false
22
PLS_38
2
71,331,794
G
T
null
5_prime_UTR_variant
false
11
5_prime_UTR_variant_82
2
71,466,675
T
C
null
PLS
false
23
PLS_39
2
71,466,813
G
A
null
5_prime_UTR_variant
false
110
5_prime_UTR_variant_80
2
72,887,420
G
A
MIM 612716
5_prime_UTR_variant
true
11
5_prime_UTR_variant_82
2
73,642,431
T
C
null
PLS
false
8
PLS_40
2
73,897,015
C
T
null
5_prime_UTR_variant
false
4,006
5_prime_UTR_variant_81
2
73,897,044
G
A
null
5_prime_UTR_variant
false
4,035
5_prime_UTR_variant_81
2
73,897,215
A
G
null
5_prime_UTR_variant
false
4,206
5_prime_UTR_variant_81
2
74,121,852
A
G
null
non_coding_transcript_exon_variant
false
26,052
non_coding_transcript_exon_variant_12
2
74,122,161
A
G
null
non_coding_transcript_exon_variant
false
25,743
non_coding_transcript_exon_variant_8
2
74,206,372
G
A
null
PLS
false
11
PLS_40
2
74,932,261
C
T
null
non_coding_transcript_exon_variant
false
26,381
non_coding_transcript_exon_variant_18
2
74,932,774
G
A
null
non_coding_transcript_exon_variant
false
25,868
non_coding_transcript_exon_variant_9
2
84,433,624
T
G
null
non_coding_transcript_exon_variant
false
25,655
non_coding_transcript_exon_variant_10
2
85,328,139
T
G
null
5_prime_UTR_variant
false
111
5_prime_UTR_variant_80
2
85,418,827
G
T
null
5_prime_UTR_variant
false
112
5_prime_UTR_variant_80
2
85,422,469
A
G
null
5_prime_UTR_variant
false
3,754
5_prime_UTR_variant_81
2
86,080,005
G
A
null
non_coding_transcript_exon_variant
false
25,880
non_coding_transcript_exon_variant_9
2
86,080,501
G
A
null
non_coding_transcript_exon_variant
false
25,384
non_coding_transcript_exon_variant_16
2
86,225,375
G
A
null
non_coding_transcript_exon_variant
false
25,911
non_coding_transcript_exon_variant_9
2
86,225,506
A
G
null
non_coding_transcript_exon_variant
false
26,042
non_coding_transcript_exon_variant_11
2
86,225,550
T
C
null
non_coding_transcript_exon_variant
false
26,086
non_coding_transcript_exon_variant_12
2
86,364,149
A
T
null
non_coding_transcript_exon_variant
false
26,065
non_coding_transcript_exon_variant_12
2
97,761,049
A
T
null
non_coding_transcript_exon_variant
false
26,642
non_coding_transcript_exon_variant_21
2
97,761,202
G
A
null
non_coding_transcript_exon_variant
false
26,795
non_coding_transcript_exon_variant_22
2
100,322,490
T
C
null
5_prime_UTR_variant
false
10
5_prime_UTR_variant_82
2
101,474,523
C
G
null
PLS
false
18
PLS_38
2
105,363,049
T
C
null
non_coding_transcript_exon_variant
false
25,508
non_coding_transcript_exon_variant_14
2
108,239,956
G
A
null
PLS
false
11
PLS_40