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
169,765,024
T
C
MIM 614743
non_coding_transcript_exon_variant
true
4,536
non_coding_transcript_exon_variant_47
3
169,765,026
G
A
MIM 127550
non_coding_transcript_exon_variant
true
4,534
non_coding_transcript_exon_variant_48
3
169,765,118
G
C
MIM 614743
PLS
true
4,442
PLS_47
3
169,765,159
G
C
MIM 127550
PLS
true
4,401
PLS_48
3
169,778,152
G
A
null
non_coding_transcript_exon_variant
false
3,886
non_coding_transcript_exon_variant_47
3
170,423,520
T
C
null
non_coding_transcript_exon_variant
false
4,651
non_coding_transcript_exon_variant_29
3
179,713,153
G
A
null
non_coding_transcript_exon_variant
false
4,379
non_coding_transcript_exon_variant_34
3
180,620,698
A
T
null
non_coding_transcript_exon_variant
false
4,045
non_coding_transcript_exon_variant_42
3
180,620,958
C
T
null
non_coding_transcript_exon_variant
false
4,305
non_coding_transcript_exon_variant_35
3
183,253,604
C
G
null
5_prime_UTR_variant
false
48
5_prime_UTR_variant_85
3
184,026,989
C
T
null
non_coding_transcript_exon_variant
false
4,554
non_coding_transcript_exon_variant_31
3
184,027,135
G
A
null
non_coding_transcript_exon_variant
false
4,408
non_coding_transcript_exon_variant_33
3
184,190,091
G
A
null
non_coding_transcript_exon_variant
false
3,891
non_coding_transcript_exon_variant_47
3
184,190,214
T
C
null
non_coding_transcript_exon_variant
false
4,014
non_coding_transcript_exon_variant_44
3
184,190,973
C
T
null
non_coding_transcript_exon_variant
false
4,773
non_coding_transcript_exon_variant_27
3
184,386,262
G
A
null
non_coding_transcript_exon_variant
false
4,293
non_coding_transcript_exon_variant_36
3
185,494,805
T
C
null
non_coding_transcript_exon_variant
false
4,181
non_coding_transcript_exon_variant_38
3
185,928,353
G
A
null
non_coding_transcript_exon_variant
false
4,459
non_coding_transcript_exon_variant_33
3
185,928,618
A
T
null
non_coding_transcript_exon_variant
false
4,724
non_coding_transcript_exon_variant_28
3
186,540,031
T
C
null
non_coding_transcript_exon_variant
false
4,348
non_coding_transcript_exon_variant_34
3
186,578,033
A
G
null
non_coding_transcript_exon_variant
false
3,961
non_coding_transcript_exon_variant_45
3
186,578,148
A
G
null
non_coding_transcript_exon_variant
false
3,846
non_coding_transcript_exon_variant_48
3
186,721,384
T
C
null
non_coding_transcript_exon_variant
false
4,024
non_coding_transcript_exon_variant_43
3
186,722,051
G
A
null
non_coding_transcript_exon_variant
false
4,691
non_coding_transcript_exon_variant_28
3
186,811,818
C
A
null
non_coding_transcript_exon_variant
false
4,759
non_coding_transcript_exon_variant_27
3
186,811,819
T
A
null
non_coding_transcript_exon_variant
false
4,760
non_coding_transcript_exon_variant_27
3
187,017,902
A
C
null
non_coding_transcript_exon_variant
false
3,952
non_coding_transcript_exon_variant_45
3
187,017,930
A
G
null
non_coding_transcript_exon_variant
false
3,924
non_coding_transcript_exon_variant_46
3
190,517,999
A
G
null
non_coding_transcript_exon_variant
false
3,896
non_coding_transcript_exon_variant_46
3
190,518,969
T
C
null
non_coding_transcript_exon_variant
false
4,866
non_coding_transcript_exon_variant_25
3
194,458,328
C
G
null
non_coding_transcript_exon_variant
false
3,861
non_coding_transcript_exon_variant_48
3
194,472,099
G
C
null
PLS
false
3,857
PLS_47
3
194,637,558
A
T
null
non_coding_transcript_exon_variant
false
3,868
non_coding_transcript_exon_variant_47
3
194,637,565
A
T
null
non_coding_transcript_exon_variant
false
3,875
non_coding_transcript_exon_variant_47
3
194,648,850
C
A
null
non_coding_transcript_exon_variant
false
4,251
non_coding_transcript_exon_variant_37
3
194,648,851
C
A
null
non_coding_transcript_exon_variant
false
4,250
non_coding_transcript_exon_variant_37
3
195,884,369
G
A
null
non_coding_transcript_exon_variant
false
4,214
non_coding_transcript_exon_variant_38
3
195,901,130
G
T
null
non_coding_transcript_exon_variant
false
3,859
non_coding_transcript_exon_variant_48
3
195,901,133
C
T
null
non_coding_transcript_exon_variant
false
3,862
non_coding_transcript_exon_variant_47
3
195,901,401
G
A
null
non_coding_transcript_exon_variant
false
4,130
non_coding_transcript_exon_variant_40
3
195,901,765
C
A
null
non_coding_transcript_exon_variant
false
4,494
non_coding_transcript_exon_variant_32
3
195,901,944
T
C
null
non_coding_transcript_exon_variant
false
4,673
non_coding_transcript_exon_variant_28
3
195,903,315
C
T
null
non_coding_transcript_exon_variant
false
5,235
non_coding_transcript_exon_variant_46
3
195,913,880
A
G
null
non_coding_transcript_exon_variant
false
4,077
non_coding_transcript_exon_variant_42
3
196,233,883
A
G
null
non_coding_transcript_exon_variant
false
3,877
non_coding_transcript_exon_variant_47
3
196,292,500
A
G
null
non_coding_transcript_exon_variant
false
4,542
non_coding_transcript_exon_variant_31
3
196,973,718
C
T
null
non_coding_transcript_exon_variant
false
4,846
non_coding_transcript_exon_variant_25
3
197,294,000
G
A
null
PLS
false
3,203
PLS_48
3
197,852,527
A
G
null
non_coding_transcript_exon_variant
false
4,525
non_coding_transcript_exon_variant_31
3
197,959,642
C
T
null
5_prime_UTR_variant
false
46
5_prime_UTR_variant_85
5
420,942
A
C
null
5_prime_UTR_variant
false
21
5_prime_UTR_variant_88
5
850,655
C
T
null
5_prime_UTR_variant
false
330
5_prime_UTR_variant_89
5
1,295,046
T
G
MIM 615134
5_prime_UTR_variant
true
21
5_prime_UTR_variant_88
5
14,871,451
C
T
null
5_prime_UTR_variant
false
326
5_prime_UTR_variant_89
5
14,871,458
G
A
MIM 118600
5_prime_UTR_variant
true
319
5_prime_UTR_variant_89
5
17,604,500
A
T
null
5_prime_UTR_variant
false
322
5_prime_UTR_variant_89
5
36,241,820
G
A
null
5_prime_UTR_variant
false
21
5_prime_UTR_variant_88
5
55,692,754
A
G
null
5_prime_UTR_variant
false
22
5_prime_UTR_variant_88
5
59,275,791
A
G
null
5_prime_UTR_variant
false
327
5_prime_UTR_variant_89
5
66,596,415
C
T
null
5_prime_UTR_variant
false
21
5_prime_UTR_variant_88
5
81,972,475
C
A
null
5_prime_UTR_variant
false
317
5_prime_UTR_variant_89
5
98,773,685
T
C
null
5_prime_UTR_variant
false
21
5_prime_UTR_variant_88
5
98,928,691
G
A
null
5_prime_UTR_variant
false
315
5_prime_UTR_variant_89
5
122,775,515
G
C
null
5_prime_UTR_variant
false
311
5_prime_UTR_variant_89
5
126,777,211
G
T
null
5_prime_UTR_variant
false
21
5_prime_UTR_variant_88
5
132,866,101
G
A
null
5_prime_UTR_variant
false
21
5_prime_UTR_variant_88
5
138,337,826
G
A
null
5_prime_UTR_variant
false
314
5_prime_UTR_variant_89
5
141,398,010
G
T
null
5_prime_UTR_variant
false
22
5_prime_UTR_variant_88
5
141,637,772
A
C
null
5_prime_UTR_variant
false
329
5_prime_UTR_variant_89
5
150,669,115
T
G
null
5_prime_UTR_variant
false
21
5_prime_UTR_variant_88
6
3,157,620
T
C
null
PLS
false
75
PLS_49
6
26,240,421
C
T
null
5_prime_UTR_variant
false
27
5_prime_UTR_variant_91
6
29,941,289
A
G
null
5_prime_UTR_variant
false
28
5_prime_UTR_variant_91
6
30,136,063
C
T
null
PLS
false
76
PLS_49
6
30,204,736
A
C
null
5_prime_UTR_variant
false
28
5_prime_UTR_variant_91
6
30,884,132
C
A
null
5_prime_UTR_variant
false
27
5_prime_UTR_variant_91
6
32,589,924
T
C
null
PLS
false
75
PLS_49
6
32,637,324
A
G
null
PLS
false
76
PLS_49
6
32,763,481
G
A
null
5_prime_UTR_variant
false
8
5_prime_UTR_variant_90
6
32,853,670
C
T
null
5_prime_UTR_variant
false
28
5_prime_UTR_variant_91
6
34,146,213
A
G
null
PLS
false
75
PLS_49
6
34,155,614
G
T
null
5_prime_UTR_variant
false
7
5_prime_UTR_variant_90
6
39,322,939
C
T
null
5_prime_UTR_variant
false
28
5_prime_UTR_variant_91
6
41,228,357
C
T
null
5_prime_UTR_variant
false
7
5_prime_UTR_variant_90
6
50,021,944
G
A
null
5_prime_UTR_variant
false
8
5_prime_UTR_variant_90
6
63,211,455
C
A
null
5_prime_UTR_variant
false
8
5_prime_UTR_variant_90
6
83,512,458
C
T
null
PLS
false
75
PLS_49
6
87,589,959
T
C
MIM 611523
5_prime_UTR_variant
true
7
5_prime_UTR_variant_90
6
96,924,543
A
G
null
PLS
false
76
PLS_49
6
99,349,645
C
T
null
5_prime_UTR_variant
false
28
5_prime_UTR_variant_91
6
109,978,319
A
C
null
5_prime_UTR_variant
false
7
5_prime_UTR_variant_90
6
111,873,293
G
C
null
5_prime_UTR_variant
false
7
5_prime_UTR_variant_90
6
116,668,870
T
C
null
PLS
false
75
PLS_49
6
118,548,219
A
G
MIM 609909
PLS
true
76
PLS_49
6
134,174,974
G
A
null
PLS
false
77
PLS_49
6
136,822,621
C
T
MIM 215100
5_prime_UTR_variant
true
28
5_prime_UTR_variant_91
6
142,302,016
T
G
null
5_prime_UTR_variant
false
8
5_prime_UTR_variant_90
6
145,964,068
C
A
null
5_prime_UTR_variant
false
28
5_prime_UTR_variant_91
6
145,964,069
C
T
null
5_prime_UTR_variant
false
27
5_prime_UTR_variant_91
6
167,291,456
T
G
null
5_prime_UTR_variant
false
7
5_prime_UTR_variant_90