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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1
| 44,007,939
| 44,007,939
|
A
|
C
|
chr1_44007939_A_C
| 0.005935
| 0.006215
| 0.00304
|
Unknown
| true
|
|||
chr6
| 118,248,303
| 118,248,303
|
T
|
A
|
rs679579
| 0.004339
| 0.004935
| 0.00628
|
GENE382
|
intron_variant
|
MODIFIER
|
Low/Modifier Impact
| true
|
chr7
| 6,129,603
| 6,129,603
|
C
|
T
|
chr7_6129603_C_T
| 0.035776
| 0.041591
| 0.044743
|
Unknown
| false
|
|||
chr21
| 29,340,119
| 29,340,119
|
G
|
C
|
rs238974941
| 0.036619
| 0.01853
| 0.0254
|
GENE778
|
splice_acceptor_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr9
| 116,003,909
| 116,003,909
|
A
|
T
|
rs177806834
| 0.021248
| 0.018104
| 0.016862
|
GENE1748
|
stop_gained
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr1
| 101,409,248
| 101,409,248
|
T
|
C
|
rs187892175
| 0.036029
| 0.05341
| 0.02814
|
Unknown
| false
|
|||
chr2
| 25,207,831
| 25,207,831
|
A
|
T
|
chr2_25207831_A_T
| 0.026993
| 0.028542
| 0.032472
|
Unknown
| false
|
|||
chr17
| 32,171,531
| 32,171,531
|
G
|
A
|
chr17_32171531_G_A
| 0.03047
| 0.020494
| 0.015724
|
Unknown
| false
|
|||
chr22
| 47,147,847
| 47,147,847
|
C
|
A
|
rs156650171
| 0.036074
| 0.05407
| 0.046275
|
FMR1
|
intron_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr12
| 2,185,152
| 2,185,152
|
A
|
C
|
rs918420612
| 0.024128
| 0.03202
| 0.030166
|
Unknown
| false
|
|||
chr1
| 88,464,485
| 88,464,485
|
A
|
T
|
chr1_88464485_A_T
| 0.013812
| 0.017939
| 0.02003
|
Unknown
| false
|
|||
chr12
| 88,726,622
| 88,726,622
|
G
|
A
|
rs881470772
| 0.031894
| 0.034147
| 0.015979
|
Unknown
| false
|
|||
chr12
| 79,183,788
| 79,183,788
|
C
|
A
|
rs896230812
| 0.098066
| 0.072515
| 0.143208
|
GENE216
|
splice_donor_variant
|
HIGH
|
High Impact
| false
|
chr22
| 4,791,708
| 4,791,708
|
T
|
A
|
rs984326619
| 0.029671
| 0.039755
| 0.022643
|
GENE1190
|
stop_lost
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr12
| 10,990,698
| 10,990,698
|
A
|
G
|
chr12_10990698_A_G
| 0.047111
| 0.051664
| 0.052787
|
Unknown
| false
|
|||
chr4
| 81,350,696
| 81,350,696
|
A
|
T
|
rs404096858
| 0.001041
| 0.001152
| 0.001507
|
GENE1345
|
splice_acceptor_variant
|
MODIFIER
|
Low/Modifier Impact
| true
|
chr6
| 150,124,220
| 150,124,220
|
G
|
C
|
chr6_150124220_G_C
| 0.001396
| 0.00126
| 0.001737
|
GENE167
|
stop_lost
|
LOW
|
Low/Modifier Impact
| true
|
chr5
| 38,921,914
| 38,921,914
|
A
|
T
|
rs131315661
| 0.357478
| 0.429905
| 0.443308
|
GENE175
|
downstream_gene_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr6
| 135,465,986
| 135,465,986
|
A
|
G
|
rs158467722
| 0.040772
| 0.056338
| 0.053048
|
GENE1010
|
upstream_gene_variant
|
MODERATE
|
Moderate Impact
| false
|
chr12
| 18,727,892
| 18,727,892
|
A
|
G
|
rs908633982
| 0.002882
| 0.002863
| 0.00161
|
Unknown
| true
|
|||
chr10
| 115,616,708
| 115,616,708
|
T
|
C
|
rs464397252
| 0.483362
| 0.295807
| 0.307845
|
GENE476
|
intron_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr4
| 95,069,455
| 95,069,455
|
A
|
C
|
rs125147659
| 0.041721
| 0.027497
| 0.056915
|
Unknown
| false
|
|||
chr2
| 98,699,790
| 98,699,790
|
G
|
A
|
chr2_98699790_G_A
| 0.0114
| 0.010918
| 0.007568
|
GENE691
|
stop_lost
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr12
| 39,311,931
| 39,311,931
|
C
|
G
|
chr12_39311931_C_G
| 0.002975
| 0.001744
| 0.002753
|
GENE1346
|
downstream_gene_variant
|
LOW
|
Low/Modifier Impact
| true
|
chr2
| 117,545,490
| 117,545,490
|
G
|
C
|
rs5775855
| 0.113173
| 0.139591
| 0.111499
|
GENE1487
|
synonymous_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr3
| 154,229,630
| 154,229,630
|
T
|
C
|
rs602473092
| 0.045916
| 0.045604
| 0.04007
|
GENE814
|
5_prime_UTR_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr14
| 63,797,890
| 63,797,890
|
A
|
C
|
rs298887047
| 0.023542
| 0.030088
| 0.013893
|
Unknown
| false
|
|||
chr6
| 146,705,826
| 146,705,826
|
C
|
G
|
chr6_146705826_C_G
| 0.035472
| 0.044884
| 0.023512
|
Unknown
| false
|
|||
chrY
| 38,829,312
| 38,829,312
|
T
|
G
|
rs378306908
| 0.00905
| 0.008579
| 0.007246
|
GENE1770
|
missense_variant
|
MODERATE
|
Moderate Impact
| true
|
chr4
| 115,860,285
| 115,860,285
|
A
|
T
|
chr4_115860285_A_T
| 0.004035
| 0.005119
| 0.005641
|
GENE436
|
upstream_gene_variant
|
MODERATE
|
Moderate Impact
| true
|
chr8
| 51,675,500
| 51,675,500
|
C
|
G
|
rs778077796
| 0.038451
| 0.034307
| 0.050585
|
Unknown
| false
|
|||
chr15
| 45,708,895
| 45,708,895
|
A
|
C
|
chr15_45708895_A_C
| 0.192211
| 0.268026
| 0.099139
|
GENE1281
|
splice_acceptor_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr19
| 28,679,738
| 28,679,738
|
T
|
G
|
chr19_28679738_T_G
| 0.232649
| 0.216053
| 0.341161
|
GENE1684
|
5_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr6
| 115,616,821
| 115,616,821
|
G
|
A
|
rs244638338
| 0.015497
| 0.014652
| 0.012071
|
GENE475
|
stop_gained
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr13
| 39,961,271
| 39,961,271
|
T
|
G
|
chr13_39961271_T_G
| 0.049086
| 0.029254
| 0.044314
|
GENE916
|
intron_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr10
| 39,054,257
| 39,054,257
|
C
|
G
|
rs424306500
| 0.017536
| 0.024916
| 0.015681
|
Unknown
| false
|
|||
chr5
| 161,503,741
| 161,503,741
|
G
|
T
|
rs408125739
| 0.045936
| 0.056355
| 0.067839
|
GENE946
|
splice_acceptor_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr5
| 5,720,032
| 5,720,032
|
G
|
T
|
chr5_5720032_G_T
| 0.039758
| 0.041346
| 0.021215
|
Unknown
| false
|
|||
chr1
| 162,271,252
| 162,271,252
|
G
|
C
|
chr1_162271252_G_C
| 0.020311
| 0.028215
| 0.017413
|
GENE607
|
start_lost
|
LOW
|
Low/Modifier Impact
| false
|
chr14
| 38,455,668
| 38,455,668
|
C
|
T
|
rs367048608
| 0.031317
| 0.017864
| 0.01823
|
GENE1995
|
frameshift_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr6
| 105,486,163
| 105,486,163
|
T
|
A
|
rs890763365
| 0.023537
| 0.026046
| 0.019125
|
GENE384
|
stop_lost
|
LOW
|
Low/Modifier Impact
| false
|
chr12
| 110,303,427
| 110,303,427
|
A
|
C
|
rs48139683
| 0.014379
| 0.019455
| 0.013287
|
GENE1024
|
splice_donor_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr4
| 94,887,999
| 94,887,999
|
T
|
A
|
rs513374084
| 0.052502
| 0.03593
| 0.065662
|
GENE1849
|
intron_variant
|
LOW
|
Low/Modifier Impact
| false
|
chrX
| 17,122,096
| 17,122,096
|
C
|
G
|
chrX_17122096_C_G
| 0.009544
| 0.00977
| 0.009213
|
Unknown
| true
|
|||
chr5
| 172,404,835
| 172,404,835
|
C
|
G
|
chr5_172404835_C_G
| 0.001004
| 0.001481
| 0.000858
|
GENE1262
|
intron_variant
|
LOW
|
Low/Modifier Impact
| true
|
chr9
| 86,659,427
| 86,659,427
|
C
|
G
|
rs617416868
| 0.038969
| 0.044196
| 0.035666
|
Unknown
| false
|
|||
chr19
| 19,638,217
| 19,638,217
|
G
|
A
|
chr19_19638217_G_A
| 0.000582
| 0.000798
| 0.000626
|
Unknown
| true
|
|||
chr15
| 40,021,405
| 40,021,405
|
G
|
T
|
chr15_40021405_G_T
| 0.039435
| 0.024947
| 0.056606
|
GENE1589
|
downstream_gene_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr8
| 87,438,723
| 87,438,723
|
C
|
T
|
chr8_87438723_C_T
| 0.003665
| 0.001959
| 0.003513
|
GENE1647
|
frameshift_variant
|
MODERATE
|
Moderate Impact
| true
|
chr7
| 53,156,201
| 53,156,201
|
G
|
T
|
rs359187071
| 0.035607
| 0.044696
| 0.040103
|
GENE482
|
splice_acceptor_variant
|
MODERATE
|
Moderate Impact
| false
|
chr5
| 3,202,473
| 3,202,473
|
C
|
G
|
rs562214973
| 0.041542
| 0.042433
| 0.042075
|
GENE381
|
splice_donor_variant
|
MODERATE
|
Moderate Impact
| false
|
chr12
| 48,936,762
| 48,936,762
|
C
|
G
|
rs194878852
| 0.018712
| 0.022944
| 0.016624
|
GENE57
|
splice_acceptor_variant
|
MODERATE
|
Moderate Impact
| false
|
chr20
| 519,244
| 519,244
|
C
|
A
|
rs10689501
| 0.036936
| 0.042047
| 0.052288
|
GENE941
|
synonymous_variant
|
MODERATE
|
Moderate Impact
| false
|
chr1
| 30,921,510
| 30,921,510
|
T
|
C
|
rs880922373
| 0.007647
| 0.009637
| 0.006382
|
GENE1696
|
5_prime_UTR_variant
|
LOW
|
Low/Modifier Impact
| true
|
chrX
| 86,054,626
| 86,054,626
|
T
|
A
|
rs283403054
| 0.074672
| 0.060863
| 0.108391
|
DMD
|
stop_lost
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr2
| 131,946,308
| 131,946,308
|
C
|
T
|
rs431958761
| 0.008189
| 0.008611
| 0.009918
|
GENE655
|
splice_donor_variant
|
MODERATE
|
Moderate Impact
| true
|
chr14
| 19,042,247
| 19,042,247
|
C
|
G
|
rs772367739
| 0.026569
| 0.030109
| 0.01357
|
Unknown
| false
|
|||
chr3
| 118,183,805
| 118,183,805
|
C
|
T
|
rs658979001
| 0.007798
| 0.010134
| 0.004754
|
GENE396
|
frameshift_variant
|
MODERATE
|
Moderate Impact
| true
|
chr2
| 138,395,108
| 138,395,108
|
T
|
C
|
chr2_138395108_T_C
| 0.012496
| 0.008868
| 0.015203
|
GENE1144
|
splice_donor_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr11
| 14,159,808
| 14,159,808
|
T
|
G
|
rs948160031
| 0.440446
| 0.430481
| 0.419384
|
GENE313
|
synonymous_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr18
| 24,781,568
| 24,781,568
|
G
|
A
|
rs239812233
| 0.008716
| 0.008388
| 0.011552
|
GENE1374
|
splice_acceptor_variant
|
MODERATE
|
Moderate Impact
| true
|
chrY
| 45,366,302
| 45,366,302
|
G
|
T
|
chrY_45366302_G_T
| 0.012307
| 0.008495
| 0.015909
|
Unknown
| false
|
|||
chr20
| 47,448,318
| 47,448,318
|
C
|
T
|
rs743352838
| 0.014593
| 0.015075
| 0.011199
|
GENE40
|
5_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr12
| 125,666,179
| 125,666,179
|
C
|
A
|
chr12_125666179_C_A
| 0.006925
| 0.007621
| 0.004834
|
Unknown
| true
|
|||
chr4
| 32,963,295
| 32,963,295
|
A
|
T
|
rs327614318
| 0.034015
| 0.021808
| 0.034247
|
GENE153
|
5_prime_UTR_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr15
| 41,458,656
| 41,458,656
|
A
|
G
|
rs838493762
| 0.019391
| 0.026556
| 0.010449
|
GENE1688
|
frameshift_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr2
| 126,594,507
| 126,594,507
|
G
|
C
|
rs344479548
| 0.02435
| 0.028411
| 0.017579
|
GENE509
|
frameshift_variant
|
MODERATE
|
Moderate Impact
| false
|
chr10
| 26,990,790
| 26,990,790
|
A
|
C
|
rs931860993
| 0.029993
| 0.027412
| 0.043431
|
GENE943
|
upstream_gene_variant
|
MODERATE
|
Moderate Impact
| false
|
chr15
| 50,965,683
| 50,965,683
|
A
|
C
|
rs494887284
| 0.017874
| 0.0153
| 0.015412
|
Unknown
| false
|
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