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reference_name
stringclasses
24 values
start_position
int64
322
249M
end_position
int64
322
249M
reference_bases
stringclasses
4 values
alternate_bases
stringclasses
4 values
variant_id
stringlengths
8
19
allele_frequency
float64
0
0.5
african_allele_frequency
float64
0
0.74
european_allele_frequency
float64
0
0.75
gene_symbol
stringlengths
0
8
consequence
stringclasses
14 values
impact
stringclasses
5 values
impact_category
stringclasses
4 values
is_rare
bool
2 classes
chr5
23,853,035
23,853,035
G
A
rs741692835
0.043607
0.050655
0.039057
GENE706
splice_donor_variant
MODIFIER
Low/Modifier Impact
false
chr18
75,263,592
75,263,592
C
T
rs828018279
0.02272
0.023637
0.031725
GENE1134
5_prime_UTR_variant
LOW
Low/Modifier Impact
false
chr5
81,653,319
81,653,319
T
A
chr5_81653319_T_A
0.028694
0.024957
0.026971
Unknown
false
chr15
26,349,926
26,349,926
T
G
rs986918231
0.043969
0.036025
0.036563
GENE230
intron_variant
MODERATE
Moderate Impact
false
chr9
87,260,325
87,260,325
T
G
rs436172305
0.022758
0.023818
0.03155
GENE83
5_prime_UTR_variant
MODIFIER
Low/Modifier Impact
false
chrY
17,075,717
17,075,717
A
C
rs743319863
0.043386
0.048974
0.05932
GENE455
synonymous_variant
MODIFIER
Low/Modifier Impact
false
chr19
18,210,760
18,210,760
T
C
rs78565862
0.014264
0.010828
0.015722
Unknown
false
chr5
11,469,874
11,469,874
C
A
chr5_11469874_C_A
0.000406
0.00048
0.000571
GENE903
upstream_gene_variant
MODIFIER
Low/Modifier Impact
true
chr11
57,554,825
57,554,825
G
A
rs509720350
0.02202
0.025722
0.014634
GENE901
splice_donor_variant
MODIFIER
Low/Modifier Impact
false
chr2
175,692,486
175,692,486
A
G
rs185337489
0.005899
0.003144
0.00666
GENE1636
frameshift_variant
MODIFIER
Low/Modifier Impact
true
chr8
134,506,109
134,506,109
A
T
rs593901348
0.045869
0.053016
0.036722
GENE1636
start_lost
LOW
Low/Modifier Impact
false
chr10
54,237,883
54,237,883
A
G
rs217326508
0.00544
0.0052
0.004312
GENE1960
splice_donor_variant
MODIFIER
Low/Modifier Impact
true
chr9
48,970,379
48,970,379
A
C
rs968278429
0.007336
0.009673
0.00976
GENE498
stop_gained
MODIFIER
Low/Modifier Impact
true
chr13
2,210,038
2,210,038
C
G
rs68501650
0.039132
0.044526
0.030896
GENE1395
5_prime_UTR_variant
MODIFIER
Low/Modifier Impact
false
chr17
62,638,756
62,638,756
G
C
rs357052012
0.040728
0.031044
0.054419
GENE1853
start_lost
MODIFIER
Low/Modifier Impact
false
chr1
89,818,303
89,818,303
C
A
rs338697504
0.015248
0.011991
0.007984
GENE967
5_prime_UTR_variant
LOW
Low/Modifier Impact
false
chr2
3,273,947
3,273,947
T
A
rs315721074
0.005215
0.003751
0.004068
GENE1737
start_lost
MODIFIER
Low/Modifier Impact
true
chr3
2,995,546
2,995,546
A
T
rs324147236
0.036715
0.023993
0.027759
Unknown
false
chr1
210,752,271
210,752,271
T
G
chr1_210752271_T_G
0.014297
0.019113
0.016217
GENE203
splice_donor_variant
MODIFIER
Low/Modifier Impact
false
chr8
111,220,280
111,220,280
G
C
chr8_111220280_G_C
0.042402
0.061129
0.024866
GENE248
start_lost
LOW
Low/Modifier Impact
false
chrX
47,931,420
47,931,420
T
C
rs613660902
0.495698
0.312419
0.458875
Unknown
false
chr4
6,185,397
6,185,397
C
T
rs641790296
0.019329
0.024847
0.027574
GENE236
intron_variant
MODIFIER
Low/Modifier Impact
false
chr2
128,061,356
128,061,356
A
T
rs376220698
0.04107
0.048624
0.060306
Unknown
false
chr16
75,265,133
75,265,133
G
C
chr16_75265133_G_C
0.044322
0.042356
0.049501
Unknown
false
chr1
97,374,595
97,374,595
C
A
rs704938467
0.457797
0.412788
0.497636
GENE144
splice_acceptor_variant
MODIFIER
Low/Modifier Impact
false
chr3
175,757,078
175,757,078
A
G
rs109899917
0.030298
0.019758
0.033384
GENE1815
stop_gained
MODIFIER
Low/Modifier Impact
false
chr9
137,562,140
137,562,140
C
A
rs430793282
0.021895
0.027
0.023133
GENE1891
missense_variant
MODIFIER
Low/Modifier Impact
false
chr3
59,921,085
59,921,085
T
A
chr3_59921085_T_A
0.049906
0.063022
0.026638
GENE544
intron_variant
LOW
Low/Modifier Impact
false
chr4
96,665,816
96,665,816
G
C
rs111635217
0.042285
0.036805
0.024127
Unknown
false
chr7
33,566,276
33,566,276
A
T
rs81544164
0.004984
0.004371
0.005776
GENE325
downstream_gene_variant
MODIFIER
Low/Modifier Impact
true
chr16
30,087,394
30,087,394
C
A
rs118700017
0.040553
0.044089
0.054976
GENE1193
stop_gained
MODERATE
Moderate Impact
false
chr1
110,141,334
110,141,334
T
C
rs324131043
0.038231
0.035125
0.030429
Unknown
false
chr3
45,963,638
45,963,638
A
T
rs520603607
0.041534
0.051204
0.051977
NF1
5_prime_UTR_variant
MODIFIER
Low/Modifier Impact
false
chr10
11,813,097
11,813,097
G
T
chr10_11813097_G_T
0.14266
0.180401
0.124289
GENE634
synonymous_variant
MODIFIER
Low/Modifier Impact
false
chr14
26,928,868
26,928,868
A
T
rs946544769
0.0038
0.004851
0.002622
GENE1932
stop_lost
LOW
Low/Modifier Impact
true
chr4
26,401,798
26,401,798
A
T
rs676184781
0.039807
0.056617
0.033457
GENE667
downstream_gene_variant
MODIFIER
Low/Modifier Impact
false
chr16
39,703,175
39,703,175
G
A
chr16_39703175_G_A
0.003643
0.004195
0.00478
GENE1773
splice_donor_variant
MODERATE
Moderate Impact
true
chr2
208,612,968
208,612,968
G
C
rs472511587
0.033597
0.034907
0.029656
GENE1206
start_lost
LOW
Low/Modifier Impact
false
chr7
58,534,673
58,534,673
A
C
rs854295331
0.014814
0.018572
0.012447
Unknown
false
chr9
80,653,231
80,653,231
A
G
chr9_80653231_A_G
0.014219
0.008297
0.020178
Unknown
false
chr10
12,631,676
12,631,676
C
G
rs258539020
0.029429
0.043738
0.025993
GENE324
synonymous_variant
MODIFIER
Low/Modifier Impact
false
chr11
7,996,080
7,996,080
C
A
rs434037210
0.001803
0.001553
0.001727
Unknown
true
chr4
171,584,725
171,584,725
A
G
rs503063709
0.043404
0.041554
0.022192
Unknown
false
chr1
58,320,479
58,320,479
G
T
chr1_58320479_G_T
0.02413
0.029847
0.016446
GENE1585
5_prime_UTR_variant
MODIFIER
Low/Modifier Impact
false
chr9
37,481,419
37,481,419
G
T
chr9_37481419_G_T
0.01486
0.021081
0.019854
GENE1207
splice_acceptor_variant
MODIFIER
Low/Modifier Impact
false
chr11
2,943,749
2,943,749
C
G
rs401262735
0.397745
0.503573
0.559131
Unknown
false
chr5
113,871,850
113,871,850
A
C
chr5_113871850_A_C
0.025158
0.037438
0.030615
GENE1867
intron_variant
LOW
Low/Modifier Impact
false
chr1
172,995,272
172,995,272
C
A
chr1_172995272_C_A
0.213934
0.250899
0.222818
GENE619
stop_gained
MODIFIER
Low/Modifier Impact
false
chr6
158,829,134
158,829,134
G
A
rs952137259
0.012896
0.012452
0.006646
GENE1382
start_lost
MODIFIER
Low/Modifier Impact
false
chr5
10,750,219
10,750,219
G
C
rs92373647
0.477213
0.701691
0.425427
GENE1218
synonymous_variant
LOW
Low/Modifier Impact
false
chr5
72,318,030
72,318,030
T
G
chr5_72318030_T_G
0.043837
0.024003
0.062781
GENE417
3_prime_UTR_variant
HIGH
High Impact
false
chr19
53,112,373
53,112,373
T
C
rs956207718
0.047303
0.054099
0.043038
Unknown
false
chr5
157,066,833
157,066,833
C
A
rs903354503
0.007072
0.009536
0.00972
GENE1590
upstream_gene_variant
LOW
Low/Modifier Impact
true
chr11
127,246,681
127,246,681
A
T
chr11_127246681_A_T
0.007348
0.006423
0.006709
GENE204
synonymous_variant
MODIFIER
Low/Modifier Impact
true
chr9
129,542,512
129,542,512
T
G
chr9_129542512_T_G
0.030163
0.024093
0.021359
GENE129
start_lost
MODIFIER
Low/Modifier Impact
false
chr5
110,713,458
110,713,458
T
C
chr5_110713458_T_C
0.014887
0.00771
0.008657
GENE1596
start_lost
LOW
Low/Modifier Impact
false
chrX
124,647,156
124,647,156
A
C
rs746124593
0.005284
0.004264
0.005734
Unknown
true
chr9
34,137,299
34,137,299
C
A
chr9_34137299_C_A
0.016448
0.022053
0.021193
GENE458
3_prime_UTR_variant
MODIFIER
Low/Modifier Impact
false
chr10
84,007,138
84,007,138
C
T
chr10_84007138_C_T
0.013341
0.009964
0.009001
Unknown
false
chr15
93,739,917
93,739,917
A
G
rs368682560
0.021169
0.020045
0.031126
Unknown
false
chr16
27,883,662
27,883,662
T
C
chr16_27883662_T_C
0.03841
0.020718
0.050739
GENE1358
stop_lost
MODIFIER
Low/Modifier Impact
false
chr6
14,169,213
14,169,213
G
T
rs978417683
0.186769
0.13305
0.276888
GENE749
synonymous_variant
MODIFIER
Low/Modifier Impact
false
chr1
248,452,294
248,452,294
G
A
rs726614869
0.018888
0.016469
0.015025
GENE666
start_lost
LOW
Low/Modifier Impact
false
chr3
118,013,622
118,013,622
C
A
rs853569409
0.291792
0.161102
0.242483
GENE1629
5_prime_UTR_variant
MODIFIER
Low/Modifier Impact
false
chr10
89,802,667
89,802,667
T
G
chr10_89802667_T_G
0.006975
0.005477
0.004468
GENE348
downstream_gene_variant
MODERATE
Moderate Impact
true
chr21
7,685,707
7,685,707
A
C
chr21_7685707_A_C
0.04723
0.056666
0.042709
Unknown
false
chr5
24,199,503
24,199,503
C
A
rs18133755
0.001654
0.001171
0.002236
GENE1834
intron_variant
MODERATE
Moderate Impact
true
chr4
166,194,183
166,194,183
G
C
rs518480133
0.0121
0.00811
0.008737
GENE430
upstream_gene_variant
MODIFIER
Low/Modifier Impact
false
chr1
184,299,945
184,299,945
T
G
chr1_184299945_T_G
0.018729
0.022446
0.017133
Unknown
false
chr19
42,462,615
42,462,615
T
G
rs456967935
0.03242
0.027741
0.035848
Unknown
false
chr12
44,835,008
44,835,008
C
G
chr12_44835008_C_G
0.024298
0.022574
0.01804
Unknown
false
chr3
29,063,209
29,063,209
C
T
rs694700200
0.484573
0.549305
0.548695
Unknown
false
chr17
73,204,681
73,204,681
G
A
rs323417067
0.024097
0.016499
0.01917
Unknown
false
chr9
107,981,811
107,981,811
G
A
chr9_107981811_G_A
0.048944
0.032503
0.045992
GENE450
missense_variant
MODIFIER
Low/Modifier Impact
false
chr2
185,792,744
185,792,744
A
C
rs622448793
0.04595
0.040374
0.035795
Unknown
false
chr6
67,839,521
67,839,521
A
T
chr6_67839521_A_T
0.009163
0.010503
0.00728
GENE168
missense_variant
LOW
Low/Modifier Impact
true
chr5
163,852,896
163,852,896
A
T
chr5_163852896_A_T
0.005249
0.003259
0.00317
Unknown
true
chr12
129,776,550
129,776,550
C
G
chr12_129776550_C_G
0.089526
0.107541
0.097264
Unknown
false
chr2
34,519,674
34,519,674
C
A
chr2_34519674_C_A
0.005617
0.006745
0.003636
Unknown
true
chr11
18,343,988
18,343,988
G
C
chr11_18343988_G_C
0.232741
0.223222
0.250435
Unknown
false
chr11
123,798,479
123,798,479
T
A
chr11_123798479_T_A
0.040037
0.022399
0.040468
GENE461
3_prime_UTR_variant
MODIFIER
Low/Modifier Impact
false
chr3
60,217,374
60,217,374
A
T
rs476016470
0.046398
0.042527
0.066747
GENE1599
intron_variant
LOW
Low/Modifier Impact
false
chr18
79,535,749
79,535,749
C
G
chr18_79535749_C_G
0.031291
0.045644
0.042446
GENE472
missense_variant
MODIFIER
Low/Modifier Impact
false
chr1
26,016,355
26,016,355
T
C
rs439397843
0.010933
0.009392
0.016006
GENE1228
frameshift_variant
MODIFIER
Low/Modifier Impact
false
chr9
221,803
221,803
T
A
chr9_221803_T_A
0.025419
0.016656
0.027614
GENE1139
stop_lost
MODIFIER
Low/Modifier Impact
false
chr4
110,172,379
110,172,379
C
G
rs248134300
0.311379
0.308104
0.321563
GENE1920
stop_lost
LOW
Low/Modifier Impact
false
chr7
115,724,666
115,724,666
G
C
rs623183610
0.017649
0.025473
0.015989
GENE1426
synonymous_variant
MODERATE
Moderate Impact
false
chr9
20,201,395
20,201,395
C
T
rs147513078
0.400043
0.259594
0.541701
GENE439
missense_variant
MODIFIER
Low/Modifier Impact
false
chr2
81,754,074
81,754,074
A
G
chr2_81754074_A_G
0.028452
0.021579
0.024764
GENE244
start_lost
MODIFIER
Low/Modifier Impact
false
chr13
73,868,141
73,868,141
G
T
rs802547778
0.04679
0.051242
0.06298
GENE1799
3_prime_UTR_variant
MODIFIER
Low/Modifier Impact
false
chr2
70,631,083
70,631,083
T
G
rs968560695
0.005382
0.005583
0.003925
GENE1076
upstream_gene_variant
MODIFIER
Low/Modifier Impact
true
chr21
3,697,267
3,697,267
T
A
rs332080762
0.005264
0.007571
0.00352
GENE1803
splice_acceptor_variant
HIGH
High Impact
true
chr10
93,383,308
93,383,308
A
G
rs612932711
0.01416
0.02058
0.010163
Unknown
false
chr8
40,190,674
40,190,674
A
T
rs684858892
0.487824
0.471373
0.50739
GENE1748
start_lost
MODIFIER
Low/Modifier Impact
false
chr7
141,250,428
141,250,428
C
A
rs194972528
0.018043
0.018903
0.014097
GENE385
5_prime_UTR_variant
MODIFIER
Low/Modifier Impact
false
chr1
122,014,428
122,014,428
A
G
rs938795202
0.023833
0.018813
0.028965
Unknown
false
chr14
15,723,789
15,723,789
A
T
rs95098127
0.042556
0.048284
0.049336
Unknown
false
chr18
41,304,146
41,304,146
T
A
rs889864831
0.021168
0.023009
0.01594
GENE951
splice_donor_variant
LOW
Low/Modifier Impact
false
chr22
33,698,290
33,698,290
T
G
rs866605134
0.030159
0.035229
0.042274
GENE81
intron_variant
MODIFIER
Low/Modifier Impact
false
chrY
12,756,842
12,756,842
G
T
rs928749702
0.027013
0.022871
0.025168
Unknown
false
End of preview. Expand in Data Studio

Summary Statistics:

Total Variants: 115,969

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