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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