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
| 14,989,803 | 14,989,803 |
C
|
T
|
chr5_14989803_C_T
| 0.043964 | 0.054198 | 0.065458 |
GENE1295
|
intron_variant
|
LOW
|
Low/Modifier Impact
| false |
chrY
| 13,871,884 | 13,871,884 |
G
|
T
|
chrY_13871884_G_T
| 0.033631 | 0.045458 | 0.041169 |
Unknown
| false |
|||
chr10
| 68,489,134 | 68,489,134 |
G
|
T
|
chr10_68489134_G_T
| 0.000988 | 0.000621 | 0.000777 |
GENE926
|
synonymous_variant
|
MODIFIER
|
Low/Modifier Impact
| true |
chr2
| 143,870,021 | 143,870,021 |
A
|
T
|
rs867378634
| 0.021561 | 0.022412 | 0.025766 |
GENE109
|
splice_acceptor_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr1
| 68,824,582 | 68,824,582 |
T
|
C
|
rs836438523
| 0.007136 | 0.007752 | 0.010307 |
GENE639
|
5_prime_UTR_variant
|
MODERATE
|
Moderate Impact
| true |
chr13
| 96,203,216 | 96,203,216 |
G
|
T
|
chr13_96203216_G_T
| 0.01789 | 0.016001 | 0.014367 |
Unknown
| false |
|||
chr2
| 92,609,005 | 92,609,005 |
T
|
G
|
chr2_92609005_T_G
| 0.007215 | 0.009159 | 0.006492 |
Unknown
| true |
|||
chr14
| 57,300,219 | 57,300,219 |
C
|
A
|
chr14_57300219_C_A
| 0.005975 | 0.008094 | 0.004446 |
GENE1734
|
upstream_gene_variant
|
MODERATE
|
Moderate Impact
| true |
chr12
| 33,952,784 | 33,952,784 |
A
|
T
|
rs592064331
| 0.002723 | 0.001939 | 0.002119 |
GENE200
|
splice_donor_variant
|
MODIFIER
|
Low/Modifier Impact
| true |
chr19
| 40,899,856 | 40,899,856 |
T
|
C
|
rs210667468
| 0.013741 | 0.010774 | 0.019088 |
GENE1997
|
stop_lost
|
LOW
|
Low/Modifier Impact
| false |
chrX
| 155,522,046 | 155,522,046 |
T
|
A
|
rs67346832
| 0.131258 | 0.168746 | 0.174873 |
GENE721
|
intron_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr14
| 90,180,262 | 90,180,262 |
T
|
A
|
rs6028007
| 0.008816 | 0.005687 | 0.009819 |
GENE1216
|
splice_acceptor_variant
|
MODIFIER
|
Low/Modifier Impact
| true |
chr12
| 87,604,247 | 87,604,247 |
T
|
A
|
chr12_87604247_T_A
| 0.337056 | 0.30861 | 0.4708 |
Unknown
| false |
|||
chr10
| 67,693,619 | 67,693,619 |
T
|
G
|
rs775816077
| 0.009843 | 0.013145 | 0.014398 |
GENE9
|
splice_donor_variant
|
LOW
|
Low/Modifier Impact
| true |
chr18
| 32,962,183 | 32,962,183 |
T
|
A
|
rs817468267
| 0.026756 | 0.014863 | 0.021651 |
GENE131
|
splice_acceptor_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr9
| 35,740,297 | 35,740,297 |
G
|
A
|
rs226890951
| 0.365031 | 0.455085 | 0.218391 |
GENE622
|
upstream_gene_variant
|
LOW
|
Low/Modifier Impact
| false |
chr3
| 19,694,490 | 19,694,490 |
G
|
C
|
rs976618557
| 0.047111 | 0.041949 | 0.042647 |
Unknown
| false |
|||
chr1
| 39,487,903 | 39,487,903 |
C
|
G
|
rs773271893
| 0.049836 | 0.054158 | 0.060514 |
Unknown
| false |
|||
chr9
| 4,788,744 | 4,788,744 |
T
|
G
|
rs790666123
| 0.002453 | 0.002209 | 0.001884 |
GENE1962
|
synonymous_variant
|
HIGH
|
High Impact
| true |
chr8
| 4,406,047 | 4,406,047 |
G
|
A
|
rs403308089
| 0.012163 | 0.006369 | 0.010974 |
GENE316
|
stop_lost
|
MODIFIER
|
Low/Modifier Impact
| false |
chr12
| 78,937,856 | 78,937,856 |
A
|
G
|
rs134939381
| 0.031881 | 0.034163 | 0.045364 |
GENE559
|
3_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr1
| 2,039,156 | 2,039,156 |
C
|
T
|
chr1_2039156_C_T
| 0.042381 | 0.029491 | 0.026173 |
Unknown
| false |
|||
chr14
| 22,481,578 | 22,481,578 |
C
|
G
|
rs615756042
| 0.018529 | 0.014082 | 0.013967 |
GENE192
|
stop_lost
|
MODIFIER
|
Low/Modifier Impact
| false |
chr1
| 66,773,136 | 66,773,136 |
G
|
C
|
chr1_66773136_G_C
| 0.013917 | 0.018498 | 0.009889 |
GENE1366
|
splice_donor_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr15
| 45,970,325 | 45,970,325 |
G
|
C
|
rs849896008
| 0.022772 | 0.018168 | 0.028777 |
GENE1272
|
intron_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr9
| 74,681,482 | 74,681,482 |
G
|
T
|
rs616386986
| 0.028531 | 0.017052 | 0.021934 |
GENE333
|
downstream_gene_variant
|
LOW
|
Low/Modifier Impact
| false |
chr13
| 98,984,629 | 98,984,629 |
G
|
T
|
chr13_98984629_G_T
| 0.037328 | 0.028886 | 0.052096 |
GENE1141
|
stop_gained
|
MODIFIER
|
Low/Modifier Impact
| false |
chr19
| 57,360,045 | 57,360,045 |
G
|
C
|
rs174033958
| 0.016613 | 0.014828 | 0.013387 |
GENE940
|
stop_lost
|
LOW
|
Low/Modifier Impact
| false |
chr5
| 75,466,489 | 75,466,489 |
C
|
T
|
rs15509629
| 0.109462 | 0.070791 | 0.116044 |
GENE1177
|
stop_lost
|
MODIFIER
|
Low/Modifier Impact
| false |
chr2
| 100,419,261 | 100,419,261 |
A
|
G
|
chr2_100419261_A_G
| 0.376288 | 0.423467 | 0.516455 |
GENE1043
|
upstream_gene_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr20
| 57,124,891 | 57,124,891 |
T
|
C
|
rs677364782
| 0.015119 | 0.019966 | 0.01901 |
GENE1590
|
synonymous_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr2
| 127,484,661 | 127,484,661 |
C
|
A
|
rs888684067
| 0.010911 | 0.011108 | 0.01265 |
Unknown
| false |
|||
chr18
| 77,471,970 | 77,471,970 |
A
|
G
|
rs374170269
| 0.029446 | 0.027687 | 0.038077 |
GENE244
|
start_lost
|
MODIFIER
|
Low/Modifier Impact
| false |
chr5
| 72,621,436 | 72,621,436 |
G
|
C
|
rs226087298
| 0.286759 | 0.392668 | 0.384989 |
GENE498
|
splice_donor_variant
|
MODERATE
|
Moderate Impact
| false |
chr11
| 48,080,229 | 48,080,229 |
A
|
C
|
chr11_48080229_A_C
| 0.030701 | 0.032993 | 0.029037 |
GENE708
|
stop_lost
|
MODIFIER
|
Low/Modifier Impact
| false |
chr3
| 120,503,524 | 120,503,524 |
C
|
T
|
rs711079434
| 0.000143 | 0.000151 | 0.000206 |
GENE1517
|
stop_gained
|
LOW
|
Low/Modifier Impact
| true |
chrX
| 137,442,734 | 137,442,734 |
A
|
C
|
rs724916000
| 0.024193 | 0.026364 | 0.019436 |
GENE1386
|
intron_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr10
| 67,524,493 | 67,524,493 |
C
|
G
|
rs91260354
| 0.000094 | 0.000081 | 0.000098 |
Unknown
| true |
|||
chr2
| 23,151,816 | 23,151,816 |
G
|
T
|
chr2_23151816_G_T
| 0.225064 | 0.154255 | 0.181425 |
GENE116
|
start_lost
|
MODIFIER
|
Low/Modifier Impact
| false |
chr7
| 82,802,735 | 82,802,735 |
T
|
A
|
rs198057923
| 0.408564 | 0.485378 | 0.287635 |
Unknown
| false |
|||
chr2
| 57,708,423 | 57,708,423 |
T
|
A
|
rs857969589
| 0.010803 | 0.007679 | 0.00572 |
Unknown
| false |
|||
chr22
| 47,383,914 | 47,383,914 |
A
|
C
|
rs797120343
| 0.038029 | 0.051933 | 0.041191 |
GENE1229
|
stop_lost
|
MODERATE
|
Moderate Impact
| false |
chr1
| 226,327,440 | 226,327,440 |
A
|
C
|
rs794500251
| 0.047379 | 0.049212 | 0.038984 |
GENE740
|
5_prime_UTR_variant
|
LOW
|
Low/Modifier Impact
| false |
chrY
| 7,390,751 | 7,390,751 |
A
|
C
|
chrY_7390751_A_C
| 0.023759 | 0.03213 | 0.024683 |
GENE1678
|
upstream_gene_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr14
| 54,884,241 | 54,884,241 |
A
|
C
|
chr14_54884241_A_C
| 0.021078 | 0.029951 | 0.027868 |
Unknown
| false |
|||
chr19
| 10,282,694 | 10,282,694 |
T
|
C
|
chr19_10282694_T_C
| 0.041395 | 0.054294 | 0.044044 |
GENE1687
|
synonymous_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr1
| 190,750,234 | 190,750,234 |
G
|
A
|
rs39009834
| 0.054227 | 0.060221 | 0.034335 |
Unknown
| false |
|||
chr18
| 73,820,592 | 73,820,592 |
G
|
A
|
rs232855451
| 0.02218 | 0.022575 | 0.024881 |
GENE183
|
missense_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr9
| 48,467,563 | 48,467,563 |
G
|
C
|
chr9_48467563_G_C
| 0.033771 | 0.022398 | 0.038885 |
GENE1873
|
splice_donor_variant
|
HIGH
|
High Impact
| false |
chr1
| 145,581,635 | 145,581,635 |
G
|
T
|
chr1_145581635_G_T
| 0.021719 | 0.011589 | 0.019172 |
GENE168
|
frameshift_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr13
| 41,824,494 | 41,824,494 |
A
|
C
|
chr13_41824494_A_C
| 0.015595 | 0.011861 | 0.023067 |
GENE1821
|
5_prime_UTR_variant
|
LOW
|
Low/Modifier Impact
| false |
chrY
| 22,531,020 | 22,531,020 |
A
|
T
|
rs468380085
| 0.023129 | 0.023216 | 0.023365 |
GENE1074
|
stop_gained
|
MODIFIER
|
Low/Modifier Impact
| false |
chr11
| 121,476,981 | 121,476,981 |
T
|
C
|
chr11_121476981_T_C
| 0.049814 | 0.035687 | 0.063163 |
GENE756
|
synonymous_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr14
| 36,353,939 | 36,353,939 |
T
|
A
|
rs247153971
| 0.043943 | 0.039636 | 0.061725 |
Unknown
| false |
|||
chr7
| 10,481,104 | 10,481,104 |
A
|
G
|
rs69037048
| 0.0087 | 0.010478 | 0.007148 |
GENE1923
|
3_prime_UTR_variant
|
LOW
|
Low/Modifier Impact
| true |
chr8
| 32,321,542 | 32,321,542 |
A
|
G
|
rs405967577
| 0.013011 | 0.01563 | 0.010195 |
GENE803
|
5_prime_UTR_variant
|
LOW
|
Low/Modifier Impact
| false |
chr5
| 94,392,957 | 94,392,957 |
A
|
T
|
rs402024696
| 0.019505 | 0.010124 | 0.013861 |
Unknown
| false |
|||
chr2
| 129,254,191 | 129,254,191 |
T
|
C
|
chr2_129254191_T_C
| 0.018199 | 0.01093 | 0.011371 |
Unknown
| false |
|||
chr4
| 16,329,716 | 16,329,716 |
G
|
T
|
chr4_16329716_G_T
| 0.047016 | 0.069997 | 0.060839 |
Unknown
| false |
|||
chr3
| 132,426,660 | 132,426,660 |
T
|
A
|
chr3_132426660_T_A
| 0.003978 | 0.003989 | 0.002614 |
Unknown
| true |
|||
chr3
| 89,175,471 | 89,175,471 |
G
|
C
|
chr3_89175471_G_C
| 0.013996 | 0.018873 | 0.013584 |
GENE1220
|
downstream_gene_variant
|
MODERATE
|
Moderate Impact
| false |
chr1
| 7,337,383 | 7,337,383 |
A
|
C
|
rs534996245
| 0.015894 | 0.016664 | 0.009163 |
GENE1282
|
splice_donor_variant
|
MODERATE
|
Moderate Impact
| false |
chr13
| 50,032,050 | 50,032,050 |
C
|
A
|
rs987305961
| 0.032156 | 0.021743 | 0.016279 |
GENE367
|
5_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr15
| 98,685,534 | 98,685,534 |
G
|
T
|
chr15_98685534_G_T
| 0.012621 | 0.011196 | 0.011039 |
GENE1352
|
frameshift_variant
|
LOW
|
Low/Modifier Impact
| false |
chr1
| 247,716,154 | 247,716,154 |
A
|
C
|
rs378267678
| 0.035079 | 0.019347 | 0.046433 |
GENE599
|
stop_lost
|
LOW
|
Low/Modifier Impact
| false |
chr14
| 57,688,691 | 57,688,691 |
C
|
A
|
rs743976120
| 0.044405 | 0.034794 | 0.062286 |
GENE714
|
frameshift_variant
|
LOW
|
Low/Modifier Impact
| false |
chr22
| 35,966,230 | 35,966,230 |
A
|
T
|
rs650436871
| 0.044257 | 0.063207 | 0.053134 |
Unknown
| false |
|||
chr3
| 111,247,433 | 111,247,433 |
T
|
A
|
rs526658999
| 0.002311 | 0.002777 | 0.002587 |
GENE1122
|
intron_variant
|
MODIFIER
|
Low/Modifier Impact
| true |
chr5
| 77,888,957 | 77,888,957 |
T
|
G
|
chr5_77888957_T_G
| 0.042999 | 0.033036 | 0.042418 |
GENE1607
|
splice_acceptor_variant
|
LOW
|
Low/Modifier Impact
| false |
chr18
| 51,738,614 | 51,738,614 |
A
|
T
|
rs90898579
| 0.000677 | 0.000891 | 0.000675 |
GENE960
|
3_prime_UTR_variant
|
HIGH
|
High Impact
| true |
chr18
| 18,713,803 | 18,713,803 |
A
|
T
|
rs983429795
| 0.022777 | 0.016226 | 0.021444 |
GENE974
|
missense_variant
|
LOW
|
Low/Modifier Impact
| false |
chr2
| 25,783,721 | 25,783,721 |
T
|
C
|
rs276904844
| 0.041069 | 0.030263 | 0.033777 |
Unknown
| false |
|||
chr9
| 60,654,308 | 60,654,308 |
T
|
G
|
rs533459146
| 0.040708 | 0.021854 | 0.047496 |
Unknown
| false |
|||
chr7
| 64,721,731 | 64,721,731 |
T
|
A
|
chr7_64721731_T_A
| 0.008596 | 0.008042 | 0.004874 |
Unknown
| true |
|||
chr3
| 156,501,086 | 156,501,086 |
A
|
G
|
rs662877111
| 0.047712 | 0.054717 | 0.031991 |
Unknown
| false |
|||
chr3
| 123,697,034 | 123,697,034 |
C
|
T
|
rs471867619
| 0.008251 | 0.005682 | 0.009383 |
GENE594
|
missense_variant
|
MODIFIER
|
Low/Modifier Impact
| true |
chr2
| 103,857,043 | 103,857,043 |
A
|
C
|
chr2_103857043_A_C
| 0.049945 | 0.062163 | 0.031313 |
Unknown
| false |
|||
chrX
| 113,163,733 | 113,163,733 |
T
|
G
|
chrX_113163733_T_G
| 0.032246 | 0.03111 | 0.040729 |
GENE368
|
frameshift_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr22
| 44,341,524 | 44,341,524 |
A
|
T
|
rs819281742
| 0.042944 | 0.021991 | 0.029737 |
GENE51
|
splice_acceptor_variant
|
MODERATE
|
Moderate Impact
| false |
chr11
| 34,523,528 | 34,523,528 |
C
|
G
|
rs475605052
| 0.029358 | 0.017198 | 0.026673 |
GENE1439
|
splice_donor_variant
|
MODERATE
|
Moderate Impact
| false |
chr9
| 16,147,161 | 16,147,161 |
G
|
C
|
chr9_16147161_G_C
| 0.00229 | 0.002282 | 0.001298 |
GENE554
|
synonymous_variant
|
LOW
|
Low/Modifier Impact
| true |
chr11
| 30,930,262 | 30,930,262 |
A
|
C
|
chr11_30930262_A_C
| 0.491238 | 0.478899 | 0.465421 |
Unknown
| false |
|||
chr14
| 76,795,761 | 76,795,761 |
A
|
T
|
chr14_76795761_A_T
| 0.026024 | 0.023348 | 0.01515 |
GENE1930
|
synonymous_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr5
| 85,979,605 | 85,979,605 |
T
|
C
|
rs731761521
| 0.039855 | 0.05021 | 0.029377 |
GENE726
|
upstream_gene_variant
|
HIGH
|
High Impact
| false |
chr22
| 32,530,965 | 32,530,965 |
T
|
G
|
chr22_32530965_T_G
| 0.022884 | 0.027571 | 0.019554 |
Unknown
| false |
|||
chr11
| 19,800,734 | 19,800,734 |
A
|
G
|
rs967852010
| 0.000891 | 0.001063 | 0.000523 |
GENE885
|
5_prime_UTR_variant
|
MODERATE
|
Moderate Impact
| true |
chr8
| 77,566,839 | 77,566,839 |
A
|
G
|
rs875338049
| 0.002844 | 0.002439 | 0.003864 |
GENE1688
|
stop_lost
|
LOW
|
Low/Modifier Impact
| true |
chr7
| 111,056,833 | 111,056,833 |
A
|
T
|
chr7_111056833_A_T
| 0.016317 | 0.020026 | 0.022364 |
Unknown
| false |
|||
chr6
| 143,697,866 | 143,697,866 |
C
|
G
|
rs472161518
| 0.361159 | 0.462711 | 0.268764 |
Unknown
| false |
|||
chr21
| 46,579,583 | 46,579,583 |
C
|
T
|
rs525287835
| 0.040911 | 0.0549 | 0.022565 |
GENE1732
|
downstream_gene_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr12
| 98,183,554 | 98,183,554 |
A
|
T
|
rs260772598
| 0.017559 | 0.024622 | 0.015479 |
GENE665
|
upstream_gene_variant
|
LOW
|
Low/Modifier Impact
| false |
chr4
| 137,575,949 | 137,575,949 |
T
|
A
|
chr4_137575949_T_A
| 0.034015 | 0.020611 | 0.048249 |
GENE900
|
stop_lost
|
LOW
|
Low/Modifier Impact
| false |
chrY
| 29,052,562 | 29,052,562 |
T
|
A
|
rs186995712
| 0.014166 | 0.01178 | 0.021107 |
GENE1393
|
splice_acceptor_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr11
| 107,571,690 | 107,571,690 |
T
|
C
|
chr11_107571690_T_C
| 0.022824 | 0.016448 | 0.027443 |
Unknown
| false |
|||
chr7
| 23,062,296 | 23,062,296 |
A
|
T
|
rs115189871
| 0.303864 | 0.378805 | 0.447061 |
GENE1947
|
splice_acceptor_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr10
| 5,734,276 | 5,734,276 |
T
|
C
|
rs956339060
| 0.038156 | 0.050012 | 0.025397 |
GENE1698
|
downstream_gene_variant
|
LOW
|
Low/Modifier Impact
| false |
chr8
| 130,149,556 | 130,149,556 |
C
|
T
|
rs219002877
| 0.040428 | 0.037536 | 0.036877 |
Unknown
| false |
|||
chr1
| 81,253,349 | 81,253,349 |
C
|
A
|
rs667414345
| 0.124677 | 0.074106 | 0.144352 |
Unknown
| false |
|||
chr14
| 45,405,217 | 45,405,217 |
G
|
T
|
rs145177843
| 0.02574 | 0.035348 | 0.029373 |
Unknown
| false |
|||
chrY
| 7,027,132 | 7,027,132 |
C
|
G
|
chrY_7027132_C_G
| 0.045822 | 0.062746 | 0.046312 |
GENE1498
|
3_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
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