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