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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