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
| 192,479,643
| 192,479,643
|
A
|
T
|
rs517196007
| 0.022286
| 0.02622
| 0.018951
|
Unknown
| false
|
|||
chr4
| 98,400,321
| 98,400,321
|
A
|
C
|
chr4_98400321_A_C
| 0.003909
| 0.005565
| 0.004127
|
Unknown
| true
|
|||
chr6
| 114,601,374
| 114,601,374
|
G
|
T
|
rs921995627
| 0.011511
| 0.007355
| 0.015459
|
Unknown
| false
|
|||
chr11
| 92,264,051
| 92,264,051
|
C
|
G
|
rs325739637
| 0.025441
| 0.019905
| 0.031953
|
GENE1684
|
downstream_gene_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr16
| 65,579,907
| 65,579,907
|
T
|
C
|
rs862699969
| 0.023557
| 0.031458
| 0.030095
|
GENE640
|
splice_donor_variant
|
MODERATE
|
Moderate Impact
| false
|
chr9
| 96,690,628
| 96,690,628
|
T
|
A
|
rs442534349
| 0.447983
| 0.298508
| 0.415402
|
Unknown
| false
|
|||
chr14
| 90,248,679
| 90,248,679
|
G
|
C
|
rs143287946
| 0.020628
| 0.022735
| 0.024189
|
GENE1115
|
stop_lost
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr22
| 32,162,588
| 32,162,588
|
T
|
G
|
chr22_32162588_T_G
| 0.021169
| 0.030754
| 0.028745
|
GENE452
|
missense_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr9
| 36,161,487
| 36,161,487
|
T
|
C
|
chr9_36161487_T_C
| 0.026366
| 0.026843
| 0.034667
|
Unknown
| false
|
|||
chr6
| 14,378,408
| 14,378,408
|
A
|
C
|
chr6_14378408_A_C
| 0.002954
| 0.0026
| 0.003697
|
GENE451
|
start_lost
|
LOW
|
Low/Modifier Impact
| true
|
chr4
| 124,831,033
| 124,831,033
|
C
|
G
|
chr4_124831033_C_G
| 0.018637
| 0.013234
| 0.017113
|
GENE530
|
stop_gained
|
LOW
|
Low/Modifier Impact
| false
|
chr16
| 65,651,287
| 65,651,287
|
A
|
G
|
rs58009132
| 0.046565
| 0.069257
| 0.064494
|
GENE7
|
upstream_gene_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr6
| 98,200,068
| 98,200,068
|
A
|
G
|
chr6_98200068_A_G
| 0.02294
| 0.023274
| 0.022644
|
GENE1131
|
frameshift_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr1
| 235,191,507
| 235,191,507
|
C
|
T
|
rs168103356
| 0.029088
| 0.035203
| 0.01751
|
Unknown
| false
|
|||
chr15
| 26,610,243
| 26,610,243
|
A
|
G
|
rs132371063
| 0.034145
| 0.028689
| 0.033147
|
Unknown
| false
|
|||
chrX
| 20,422,678
| 20,422,678
|
G
|
A
|
rs494386264
| 0.025197
| 0.022289
| 0.017168
|
GENE441
|
5_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr12
| 62,821,536
| 62,821,536
|
T
|
C
|
rs577021446
| 0.038859
| 0.042373
| 0.054457
|
GENE986
|
start_lost
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr13
| 3,120,619
| 3,120,619
|
T
|
G
|
chr13_3120619_T_G
| 0.049705
| 0.027593
| 0.067661
|
GENE1330
|
splice_acceptor_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr10
| 48,961,771
| 48,961,771
|
T
|
C
|
rs47253232
| 0.045422
| 0.057175
| 0.046054
|
GENE1627
|
stop_lost
|
LOW
|
Low/Modifier Impact
| false
|
chr8
| 30,321,582
| 30,321,582
|
C
|
A
|
rs746892853
| 0.046192
| 0.057486
| 0.068666
|
GENE442
|
intron_variant
|
MODERATE
|
Moderate Impact
| false
|
chr7
| 29,075,780
| 29,075,780
|
T
|
A
|
rs762155721
| 0.008044
| 0.011533
| 0.008147
|
GENE1060
|
5_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| true
|
chr12
| 125,737,179
| 125,737,179
|
G
|
C
|
chr12_125737179_G_C
| 0.00295
| 0.003459
| 0.001771
|
Unknown
| true
|
|||
chr6
| 80,524,728
| 80,524,728
|
T
|
A
|
rs915687959
| 0.031557
| 0.021079
| 0.047272
|
GENE97
|
start_lost
|
LOW
|
Low/Modifier Impact
| false
|
chr6
| 2,426,496
| 2,426,496
|
G
|
C
|
rs116567054
| 0.037595
| 0.048118
| 0.05002
|
GENE380
|
stop_lost
|
LOW
|
Low/Modifier Impact
| false
|
chr16
| 8,629,890
| 8,629,890
|
A
|
G
|
chr16_8629890_A_G
| 0.044838
| 0.03724
| 0.028902
|
GENE230
|
upstream_gene_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr22
| 14,815,969
| 14,815,969
|
T
|
A
|
rs931852703
| 0.048668
| 0.070809
| 0.044933
|
GENE399
|
upstream_gene_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr7
| 84,124,421
| 84,124,421
|
C
|
T
|
rs139008795
| 0.002356
| 0.002584
| 0.001891
|
GENE660
|
splice_acceptor_variant
|
MODIFIER
|
Low/Modifier Impact
| true
|
chr5
| 75,171,762
| 75,171,762
|
A
|
T
|
chr5_75171762_A_T
| 0.020726
| 0.014043
| 0.019798
|
GENE1194
|
splice_acceptor_variant
|
MODERATE
|
Moderate Impact
| false
|
chr2
| 199,881,038
| 199,881,038
|
C
|
A
|
rs426560180
| 0.004539
| 0.006802
| 0.002671
|
Unknown
| true
|
|||
chr17
| 12,390,853
| 12,390,853
|
A
|
T
|
chr17_12390853_A_T
| 0.019877
| 0.016069
| 0.028389
|
Unknown
| false
|
|||
chr11
| 74,398,069
| 74,398,069
|
T
|
C
|
rs427337927
| 0.015281
| 0.015437
| 0.018781
|
GENE1761
|
splice_donor_variant
|
LOW
|
Low/Modifier Impact
| false
|
chrX
| 66,653,325
| 66,653,325
|
G
|
A
|
chrX_66653325_G_A
| 0.016961
| 0.010876
| 0.011802
|
GENE319
|
5_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr1
| 102,567,977
| 102,567,977
|
G
|
A
|
rs505604604
| 0.014517
| 0.01543
| 0.014233
|
GENE1897
|
stop_lost
|
MODIFIER
|
Low/Modifier Impact
| false
|
chrX
| 98,098,864
| 98,098,864
|
C
|
A
|
rs853847931
| 0.329985
| 0.441576
| 0.315962
|
Unknown
| false
|
|||
chr20
| 27,550,634
| 27,550,634
|
T
|
C
|
rs713304304
| 0.005082
| 0.005134
| 0.007285
|
Unknown
| true
|
|||
chr3
| 21,290,590
| 21,290,590
|
A
|
C
|
rs232144941
| 0.04395
| 0.062219
| 0.064323
|
GENE735
|
synonymous_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr8
| 21,453,440
| 21,453,440
|
G
|
T
|
rs546122186
| 0.010723
| 0.007624
| 0.011922
|
GENE298
|
frameshift_variant
|
MODERATE
|
Moderate Impact
| false
|
chr7
| 93,087,299
| 93,087,299
|
C
|
G
|
rs930730189
| 0.030268
| 0.037807
| 0.026339
|
GENE1008
|
synonymous_variant
|
LOW
|
Low/Modifier Impact
| false
|
chrX
| 119,937,339
| 119,937,339
|
T
|
C
|
chrX_119937339_T_C
| 0.018247
| 0.013145
| 0.01909
|
Unknown
| false
|
|||
chr10
| 133,621,814
| 133,621,814
|
A
|
T
|
rs995979726
| 0.027885
| 0.038054
| 0.032708
|
Unknown
| false
|
|||
chr4
| 67,933,562
| 67,933,562
|
A
|
C
|
rs644672640
| 0.00472
| 0.006253
| 0.00294
|
KRAS
|
frameshift_variant
|
MODIFIER
|
Low/Modifier Impact
| true
|
chr10
| 13,832,618
| 13,832,618
|
T
|
C
|
rs507230792
| 0.047953
| 0.05527
| 0.031185
|
GENE1378
|
stop_gained
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr18
| 9,358,790
| 9,358,790
|
A
|
G
|
rs972745918
| 0.03913
| 0.049007
| 0.027179
|
GENE252
|
upstream_gene_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr5
| 66,521,960
| 66,521,960
|
T
|
C
|
chr5_66521960_T_C
| 0.032333
| 0.035603
| 0.016242
|
GENE851
|
3_prime_UTR_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr8
| 39,055,752
| 39,055,752
|
G
|
T
|
rs538199481
| 0.021666
| 0.01717
| 0.01251
|
GENE458
|
stop_lost
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr6
| 63,935,603
| 63,935,603
|
C
|
G
|
rs658167151
| 0.001579
| 0.001958
| 0.001847
|
GENE847
|
stop_gained
|
MODIFIER
|
Low/Modifier Impact
| true
|
chr9
| 90,212,267
| 90,212,267
|
T
|
C
|
rs530487996
| 0.01175
| 0.017334
| 0.012194
|
GENE52
|
3_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr8
| 99,005,129
| 99,005,129
|
A
|
T
|
chr8_99005129_A_T
| 0.008837
| 0.005426
| 0.004685
|
GENE810
|
upstream_gene_variant
|
HIGH
|
High Impact
| true
|
chr8
| 94,281,158
| 94,281,158
|
G
|
T
|
chr8_94281158_G_T
| 0.217447
| 0.305252
| 0.122702
|
GENE752
|
stop_gained
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr12
| 84,925,154
| 84,925,154
|
T
|
A
|
rs197559033
| 0.477219
| 0.635372
| 0.634824
|
GENE1495
|
frameshift_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr9
| 37,033,045
| 37,033,045
|
G
|
A
|
rs902514486
| 0.040089
| 0.030326
| 0.028232
|
GENE1842
|
5_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr4
| 30,603,115
| 30,603,115
|
A
|
C
|
chr4_30603115_A_C
| 0.021445
| 0.011173
| 0.023133
|
Unknown
| false
|
|||
chr11
| 113,608,282
| 113,608,282
|
A
|
T
|
chr11_113608282_A_T
| 0.014373
| 0.014676
| 0.018237
|
GENE649
|
stop_gained
|
LOW
|
Low/Modifier Impact
| false
|
chr6
| 169,447,568
| 169,447,568
|
A
|
C
|
rs487841656
| 0.237757
| 0.123805
| 0.16123
|
Unknown
| false
|
|||
chr21
| 7,222,080
| 7,222,080
|
G
|
A
|
rs56580802
| 0.03862
| 0.054247
| 0.046613
|
GENE1320
|
stop_lost
|
HIGH
|
High Impact
| false
|
chr18
| 6,630,320
| 6,630,320
|
T
|
G
|
rs769651292
| 0.007575
| 0.010397
| 0.009564
|
GENE1096
|
stop_gained
|
LOW
|
Low/Modifier Impact
| true
|
chr14
| 94,906,486
| 94,906,486
|
A
|
C
|
rs372637526
| 0.030882
| 0.020502
| 0.028351
|
GENE1280
|
downstream_gene_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr12
| 4,664,389
| 4,664,389
|
C
|
G
|
chr12_4664389_C_G
| 0.04271
| 0.042707
| 0.034573
|
GENE776
|
start_lost
|
LOW
|
Low/Modifier Impact
| false
|
chr9
| 103,818,327
| 103,818,327
|
A
|
T
|
chr9_103818327_A_T
| 0.046158
| 0.064443
| 0.031157
|
Unknown
| false
|
|||
chr21
| 14,078,241
| 14,078,241
|
T
|
C
|
rs991713942
| 0.015554
| 0.017341
| 0.008912
|
GENE1984
|
3_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr22
| 2,654,712
| 2,654,712
|
A
|
T
|
rs460916754
| 0.043313
| 0.034054
| 0.052941
|
GENE978
|
splice_donor_variant
|
MODERATE
|
Moderate Impact
| false
|
chr6
| 155,201,817
| 155,201,817
|
G
|
T
|
rs713366961
| 0.004835
| 0.003583
| 0.006671
|
GENE752
|
downstream_gene_variant
|
LOW
|
Low/Modifier Impact
| true
|
chr7
| 81,455,268
| 81,455,268
|
C
|
G
|
rs453801398
| 0.00408
| 0.002761
| 0.00562
|
GENE1714
|
downstream_gene_variant
|
MODIFIER
|
Low/Modifier Impact
| true
|
chr4
| 135,072,514
| 135,072,514
|
T
|
G
|
rs279208798
| 0.02162
| 0.022107
| 0.021744
|
Unknown
| false
|
|||
chr2
| 219,119,700
| 219,119,700
|
A
|
G
|
rs591900040
| 0.22253
| 0.313441
| 0.289071
|
GENE1949
|
downstream_gene_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr7
| 153,122,826
| 153,122,826
|
G
|
C
|
rs605395089
| 0.011306
| 0.011845
| 0.01469
|
GENE1227
|
stop_gained
|
LOW
|
Low/Modifier Impact
| false
|
chr5
| 43,690,362
| 43,690,362
|
G
|
A
|
rs873142122
| 0.012641
| 0.015569
| 0.013934
|
GENE1902
|
start_lost
|
MODERATE
|
Moderate Impact
| false
|
chr18
| 55,582,562
| 55,582,562
|
A
|
T
|
rs211073427
| 0.042695
| 0.034906
| 0.045152
|
GENE1881
|
synonymous_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr14
| 94,442,873
| 94,442,873
|
G
|
C
|
rs497435346
| 0.010497
| 0.010232
| 0.005687
|
GENE662
|
5_prime_UTR_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr1
| 38,073,703
| 38,073,703
|
C
|
A
|
rs344543593
| 0.363021
| 0.452504
| 0.310316
|
GENE1116
|
stop_lost
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr1
| 58,083,965
| 58,083,965
|
C
|
G
|
rs257399618
| 0.470936
| 0.377265
| 0.587005
|
GENE498
|
downstream_gene_variant
|
MODERATE
|
Moderate Impact
| false
|
chr6
| 101,200,679
| 101,200,679
|
T
|
C
|
rs105074122
| 0.109919
| 0.058477
| 0.090593
|
Unknown
| false
|
|||
chr13
| 259,136
| 259,136
|
T
|
A
|
rs934689721
| 0.033384
| 0.041965
| 0.045034
|
GENE595
|
start_lost
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr6
| 30,235,293
| 30,235,293
|
G
|
C
|
rs935324759
| 0.003558
| 0.00461
| 0.003191
|
GENE1567
|
stop_lost
|
MODIFIER
|
Low/Modifier Impact
| true
|
chrX
| 127,237,130
| 127,237,130
|
T
|
G
|
rs178396166
| 0.011571
| 0.013823
| 0.01522
|
Unknown
| false
|
|||
chr6
| 140,569,710
| 140,569,710
|
T
|
G
|
rs661043256
| 0.03724
| 0.039505
| 0.030469
|
GENE621
|
splice_acceptor_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr9
| 134,109,382
| 134,109,382
|
G
|
A
|
rs744469339
| 0.004612
| 0.003764
| 0.003418
|
GENE206
|
splice_donor_variant
|
MODIFIER
|
Low/Modifier Impact
| true
|
chrX
| 64,509,335
| 64,509,335
|
T
|
A
|
rs119239566
| 0.368319
| 0.279763
| 0.279251
|
GENE1251
|
start_lost
|
MODERATE
|
Moderate Impact
| false
|
chr12
| 130,025,503
| 130,025,503
|
A
|
G
|
chr12_130025503_A_G
| 0.039243
| 0.044699
| 0.041106
|
Unknown
| false
|
|||
chr14
| 92,372,696
| 92,372,696
|
G
|
T
|
rs438258126
| 0.016389
| 0.01629
| 0.019142
|
GENE365
|
upstream_gene_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr2
| 47,477,821
| 47,477,821
|
A
|
G
|
chr2_47477821_A_G
| 0.029006
| 0.041162
| 0.021547
|
GENE1671
|
upstream_gene_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr7
| 17,322,602
| 17,322,602
|
A
|
T
|
rs90820666
| 0.017522
| 0.013569
| 0.013307
|
GENE350
|
stop_lost
|
LOW
|
Low/Modifier Impact
| false
|
chr14
| 99,469,463
| 99,469,463
|
T
|
G
|
rs713814752
| 0.017705
| 0.011351
| 0.012281
|
Unknown
| false
|
|||
chr10
| 128,170,546
| 128,170,546
|
A
|
C
|
chr10_128170546_A_C
| 0.046973
| 0.028901
| 0.05229
|
GENE1880
|
3_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr1
| 73,917,821
| 73,917,821
|
T
|
C
|
chr1_73917821_T_C
| 0.022269
| 0.01943
| 0.031615
|
Unknown
| false
|
|||
chr17
| 60,575,135
| 60,575,135
|
A
|
T
|
rs826763533
| 0.047869
| 0.049841
| 0.042455
|
GENE1833
|
frameshift_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr5
| 9,571,551
| 9,571,551
|
T
|
A
|
rs756067016
| 0.025334
| 0.017038
| 0.0225
|
GENE475
|
splice_acceptor_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr3
| 183,422,157
| 183,422,157
|
G
|
A
|
rs375618289
| 0.020068
| 0.012663
| 0.02892
|
GENE336
|
intron_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr4
| 52,462,827
| 52,462,827
|
G
|
A
|
rs786806142
| 0.008561
| 0.004394
| 0.00502
|
GENE138
|
missense_variant
|
MODIFIER
|
Low/Modifier Impact
| true
|
chr19
| 53,624,647
| 53,624,647
|
G
|
C
|
rs625491236
| 0.006956
| 0.007833
| 0.007
|
GENE817
|
synonymous_variant
|
MODIFIER
|
Low/Modifier Impact
| true
|
chr16
| 6,773,500
| 6,773,500
|
T
|
G
|
rs492322076
| 0.067026
| 0.051989
| 0.09786
|
Unknown
| false
|
|||
chr4
| 157,241,183
| 157,241,183
|
G
|
A
|
chr4_157241183_G_A
| 0.085384
| 0.047695
| 0.077999
|
GENE1415
|
splice_donor_variant
|
LOW
|
Low/Modifier Impact
| false
|
chrY
| 36,293,749
| 36,293,749
|
C
|
G
|
rs82161592
| 0.002379
| 0.002375
| 0.003043
|
Unknown
| true
|
|||
chr1
| 3,762,524
| 3,762,524
|
T
|
A
|
rs523519416
| 0.013503
| 0.009499
| 0.013062
|
GENE1477
|
frameshift_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr9
| 53,194,582
| 53,194,582
|
A
|
C
|
rs855838485
| 0.013161
| 0.019075
| 0.008864
|
Unknown
| false
|
|||
chr2
| 111,179,644
| 111,179,644
|
A
|
G
|
rs806358297
| 0.027118
| 0.035014
| 0.021371
|
Unknown
| false
|
|||
chr6
| 90,870,235
| 90,870,235
|
G
|
C
|
rs332456088
| 0.022831
| 0.028394
| 0.030523
|
GENE173
|
missense_variant
|
MODERATE
|
Moderate Impact
| false
|
chr13
| 54,383,292
| 54,383,292
|
G
|
T
|
rs926703575
| 0.311114
| 0.182425
| 0.290668
|
GENE1982
|
missense_variant
|
MODERATE
|
Moderate Impact
| false
|
chr17
| 49,803,918
| 49,803,918
|
G
|
T
|
rs131641306
| 0.225975
| 0.15243
| 0.320541
|
Unknown
| false
|
|||
chr19
| 56,884,095
| 56,884,095
|
T
|
C
|
chr19_56884095_T_C
| 0.038939
| 0.044554
| 0.047189
|
GENE1527
|
synonymous_variant
|
LOW
|
Low/Modifier Impact
| false
|
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