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 | 31,455,736 | 31,455,736 | C | A | chr1_31455736_C_A | 0.035174 | 0.050998 | 0.052365 | GENE1766 | splice_acceptor_variant | MODIFIER | Low/Modifier Impact | false |
chr17 | 62,462,503 | 62,462,503 | T | G | rs640652464 | 0.049612 | 0.043199 | 0.047779 | Unknown | false | |||
chrX | 148,311,000 | 148,311,000 | C | A | rs928488383 | 0.016379 | 0.02099 | 0.024208 | GENE1845 | intron_variant | LOW | Low/Modifier Impact | false |
chr7 | 89,427,849 | 89,427,849 | A | C | chr7_89427849_A_C | 0.014308 | 0.017393 | 0.011003 | GENE406 | splice_donor_variant | MODIFIER | Low/Modifier Impact | false |
chr10 | 63,397,748 | 63,397,748 | T | C | rs70613537 | 0.030046 | 0.036735 | 0.018706 | GENE563 | 3_prime_UTR_variant | LOW | Low/Modifier Impact | false |
chr8 | 136,133,500 | 136,133,500 | C | A | rs203157413 | 0.0443 | 0.05704 | 0.036026 | GENE525 | frameshift_variant | MODERATE | Moderate Impact | false |
chr6 | 21,080,105 | 21,080,105 | T | C | chr6_21080105_T_C | 0.008581 | 0.00601 | 0.012829 | GENE932 | downstream_gene_variant | MODIFIER | Low/Modifier Impact | true |
chr10 | 89,234,145 | 89,234,145 | A | C | rs20700111 | 0.019628 | 0.014581 | 0.029404 | GENE613 | frameshift_variant | MODERATE | Moderate Impact | false |
chr3 | 18,862,188 | 18,862,188 | A | G | rs30372409 | 0.04551 | 0.036278 | 0.052619 | GENE241 | splice_acceptor_variant | MODIFIER | Low/Modifier Impact | false |
chr8 | 122,344,333 | 122,344,333 | C | G | rs107462987 | 0.146696 | 0.078874 | 0.193274 | GENE1072 | start_lost | MODIFIER | Low/Modifier Impact | false |
chr2 | 140,489,113 | 140,489,113 | A | G | rs180473082 | 0.194114 | 0.201244 | 0.276951 | GENE1862 | downstream_gene_variant | LOW | Low/Modifier Impact | false |
chr13 | 70,294,023 | 70,294,023 | G | T | chr13_70294023_G_T | 0.01597 | 0.022997 | 0.020846 | GENE1675 | stop_lost | MODIFIER | Low/Modifier Impact | false |
chr8 | 102,844,267 | 102,844,267 | A | T | rs439931228 | 0.046895 | 0.070135 | 0.026388 | GENE1097 | downstream_gene_variant | MODIFIER | Low/Modifier Impact | false |
chr8 | 40,762,423 | 40,762,423 | T | C | rs578403794 | 0.026737 | 0.039718 | 0.02128 | GENE1685 | missense_variant | MODIFIER | Low/Modifier Impact | false |
chr16 | 71,806,974 | 71,806,974 | C | T | chr16_71806974_C_T | 0.035772 | 0.049007 | 0.05115 | GENE1432 | 5_prime_UTR_variant | LOW | Low/Modifier Impact | false |
chr6 | 75,789,407 | 75,789,407 | G | C | rs312979341 | 0.02379 | 0.013765 | 0.015303 | Unknown | false | |||
chr12 | 123,593,704 | 123,593,704 | T | C | rs75489273 | 0.003731 | 0.005043 | 0.001938 | Unknown | true | |||
chr10 | 119,751,817 | 119,751,817 | T | A | rs486984352 | 0.016484 | 0.016905 | 0.020993 | GENE1999 | missense_variant | MODIFIER | Low/Modifier Impact | false |
chr14 | 103,678,066 | 103,678,066 | C | T | chr14_103678066_C_T | 0.043006 | 0.038388 | 0.058716 | Unknown | false | |||
chr12 | 119,225,139 | 119,225,139 | A | G | chr12_119225139_A_G | 0.015396 | 0.019192 | 0.014915 | Unknown | false | |||
chr2 | 25,418,006 | 25,418,006 | A | C | rs494366249 | 0.045542 | 0.048808 | 0.042936 | GENE48 | splice_donor_variant | MODERATE | Moderate Impact | false |
chr2 | 55,857,997 | 55,857,997 | C | G | chr2_55857997_C_G | 0.049788 | 0.030013 | 0.029953 | GENE1369 | synonymous_variant | MODIFIER | Low/Modifier Impact | false |
chr8 | 46,277,220 | 46,277,220 | A | C | rs501879300 | 0.028045 | 0.015633 | 0.024049 | Unknown | false | |||
chrX | 41,256,195 | 41,256,195 | A | C | rs200757841 | 0.035125 | 0.023808 | 0.050402 | Unknown | false | |||
chr2 | 79,021,521 | 79,021,521 | A | G | rs437158656 | 0.043006 | 0.036957 | 0.040248 | Unknown | false | |||
chr1 | 58,212,368 | 58,212,368 | T | G | rs311407011 | 0.017205 | 0.017111 | 0.023759 | Unknown | false | |||
chr13 | 81,954,031 | 81,954,031 | T | G | chr13_81954031_T_G | 0.011748 | 0.009626 | 0.012648 | Unknown | false | |||
chr1 | 105,033,323 | 105,033,323 | G | C | chr1_105033323_G_C | 0.017911 | 0.016753 | 0.020137 | GENE1644 | 5_prime_UTR_variant | MODIFIER | Low/Modifier Impact | false |
chr5 | 10,932,674 | 10,932,674 | G | C | rs970433197 | 0.005646 | 0.006943 | 0.008103 | Unknown | true | |||
chr10 | 59,114,605 | 59,114,605 | A | G | rs485475545 | 0.010869 | 0.006786 | 0.006295 | Unknown | false | |||
chrY | 20,622,951 | 20,622,951 | T | G | rs366260023 | 0.036354 | 0.045401 | 0.036306 | GENE471 | 5_prime_UTR_variant | LOW | Low/Modifier Impact | false |
chrX | 39,272,945 | 39,272,945 | G | A | chrX_39272945_G_A | 0.048171 | 0.029524 | 0.040755 | GENE1133 | stop_gained | MODIFIER | Low/Modifier Impact | false |
chr8 | 51,800,146 | 51,800,146 | T | A | rs539426551 | 0.042889 | 0.062795 | 0.029375 | NF2 | stop_lost | LOW | Low/Modifier Impact | false |
chr9 | 3,237,711 | 3,237,711 | G | C | rs838057655 | 0.046667 | 0.055943 | 0.023823 | Unknown | false | |||
chr6 | 61,724,162 | 61,724,162 | G | C | rs782064027 | 0.019875 | 0.025057 | 0.023579 | GENE1052 | start_lost | MODERATE | Moderate Impact | false |
chr20 | 18,857,622 | 18,857,622 | A | G | rs587260933 | 0.046601 | 0.025245 | 0.051891 | Unknown | false | |||
chr4 | 92,264,447 | 92,264,447 | T | G | chr4_92264447_T_G | 0.014487 | 0.007629 | 0.020433 | GENE129 | splice_acceptor_variant | HIGH | High Impact | false |
chr1 | 129,511,038 | 129,511,038 | A | C | rs57342839 | 0.237157 | 0.21468 | 0.232179 | Unknown | false | |||
chr6 | 64,577,275 | 64,577,275 | C | T | rs989657087 | 0.037273 | 0.040064 | 0.025268 | Unknown | false | |||
chr11 | 124,934,514 | 124,934,514 | C | A | rs386189946 | 0.035376 | 0.050744 | 0.022954 | GENE1158 | splice_donor_variant | MODIFIER | Low/Modifier Impact | false |
chr18 | 58,546,560 | 58,546,560 | A | C | rs610743542 | 0.03519 | 0.026343 | 0.029439 | GENE489 | upstream_gene_variant | MODERATE | Moderate Impact | false |
chr15 | 57,973,898 | 57,973,898 | T | G | rs235283251 | 0.043657 | 0.061649 | 0.054815 | Unknown | false | |||
chr7 | 1,561,720 | 1,561,720 | A | T | chr7_1561720_A_T | 0.003697 | 0.003964 | 0.004654 | GENE1652 | upstream_gene_variant | LOW | Low/Modifier Impact | true |
chr12 | 26,460,729 | 26,460,729 | C | T | rs307765634 | 0.009791 | 0.009673 | 0.007887 | GENE815 | upstream_gene_variant | MODIFIER | Low/Modifier Impact | true |
chr12 | 110,274,831 | 110,274,831 | G | A | rs978009405 | 0.029387 | 0.018645 | 0.030844 | Unknown | false | |||
chr6 | 146,370,869 | 146,370,869 | G | T | rs201741120 | 0.027825 | 0.030442 | 0.019224 | Unknown | false | |||
chr12 | 75,847,597 | 75,847,597 | C | T | rs183000764 | 0.038618 | 0.036586 | 0.052437 | GENE40 | upstream_gene_variant | MODERATE | Moderate Impact | false |
chr5 | 13,604,450 | 13,604,450 | T | C | rs740531079 | 0.013561 | 0.015196 | 0.013147 | Unknown | false | |||
chr5 | 99,496,985 | 99,496,985 | T | C | rs201884783 | 0.02237 | 0.011397 | 0.024769 | Unknown | false | |||
chr6 | 49,766,854 | 49,766,854 | G | C | rs158135098 | 0.006973 | 0.009122 | 0.004673 | GENE1549 | 5_prime_UTR_variant | MODIFIER | Low/Modifier Impact | true |
chr5 | 133,169,008 | 133,169,008 | G | C | chr5_133169008_G_C | 0.177976 | 0.135163 | 0.096642 | Unknown | false | |||
chr6 | 97,583,695 | 97,583,695 | G | C | rs261495030 | 0.001033 | 0.000858 | 0.000628 | Unknown | true | |||
chr5 | 44,471,566 | 44,471,566 | G | T | chr5_44471566_G_T | 0.025929 | 0.031756 | 0.016132 | GENE412 | stop_lost | MODERATE | Moderate Impact | false |
chr3 | 88,636,663 | 88,636,663 | T | C | chr3_88636663_T_C | 0.013428 | 0.006838 | 0.019508 | GENE7 | missense_variant | MODIFIER | Low/Modifier Impact | false |
chr1 | 215,342,403 | 215,342,403 | C | T | chr1_215342403_C_T | 0.007404 | 0.00396 | 0.010539 | GENE265 | 3_prime_UTR_variant | MODIFIER | Low/Modifier Impact | true |
chr15 | 92,859,842 | 92,859,842 | T | G | chr15_92859842_T_G | 0.025907 | 0.025564 | 0.020847 | GENE957 | stop_gained | LOW | Low/Modifier Impact | false |
chr4 | 157,996,226 | 157,996,226 | T | G | rs404442076 | 0.034078 | 0.050489 | 0.042319 | GENE20 | upstream_gene_variant | LOW | Low/Modifier Impact | false |
chr2 | 40,476,553 | 40,476,553 | T | C | rs59582998 | 0.024863 | 0.024372 | 0.012646 | GENE1624 | stop_lost | MODERATE | Moderate Impact | false |
chr9 | 63,648,005 | 63,648,005 | T | G | rs655250257 | 0.036802 | 0.046253 | 0.03974 | Unknown | false | |||
chr1 | 105,667,988 | 105,667,988 | A | G | rs962478329 | 0.016619 | 0.011258 | 0.013525 | GENE627 | splice_acceptor_variant | HIGH | High Impact | false |
chr2 | 84,700,929 | 84,700,929 | C | A | chr2_84700929_C_A | 0.095859 | 0.068191 | 0.072841 | GENE1224 | frameshift_variant | MODIFIER | Low/Modifier Impact | false |
chr11 | 92,095,526 | 92,095,526 | G | A | rs386801361 | 0.045686 | 0.050341 | 0.067074 | Unknown | false | |||
chr19 | 21,032,667 | 21,032,667 | G | A | chr19_21032667_G_A | 0.030602 | 0.017522 | 0.020929 | GENE402 | splice_donor_variant | LOW | Low/Modifier Impact | false |
chr8 | 6,073,509 | 6,073,509 | A | G | chr8_6073509_A_G | 0.042201 | 0.040464 | 0.027701 | GENE230 | stop_gained | LOW | Low/Modifier Impact | false |
chr13 | 43,419,442 | 43,419,442 | G | C | rs528366361 | 0.021391 | 0.021929 | 0.010844 | GENE1540 | frameshift_variant | MODERATE | Moderate Impact | false |
chr7 | 62,838,756 | 62,838,756 | G | A | rs55645840 | 0.01027 | 0.007531 | 0.014933 | Unknown | false | |||
chr8 | 68,328,694 | 68,328,694 | C | G | chr8_68328694_C_G | 0.038413 | 0.030209 | 0.022675 | Unknown | false | |||
chr11 | 21,177,498 | 21,177,498 | T | C | chr11_21177498_T_C | 0.015867 | 0.009191 | 0.020042 | GENE1166 | stop_gained | MODERATE | Moderate Impact | false |
chr5 | 118,312,047 | 118,312,047 | C | A | rs406373586 | 0.049993 | 0.058163 | 0.032672 | GENE552 | splice_acceptor_variant | LOW | Low/Modifier Impact | false |
chr1 | 243,294,492 | 243,294,492 | A | C | rs857036907 | 0.279954 | 0.220055 | 0.213553 | Unknown | false | |||
chr5 | 33,154,348 | 33,154,348 | T | A | rs947304717 | 0.031714 | 0.043549 | 0.027819 | HTT | 5_prime_UTR_variant | LOW | Low/Modifier Impact | false |
chr6 | 43,911,311 | 43,911,311 | A | T | rs531412539 | 0.490289 | 0.391838 | 0.438381 | GENE1563 | 5_prime_UTR_variant | MODIFIER | Low/Modifier Impact | false |
chrX | 74,514,061 | 74,514,061 | C | G | rs88504706 | 0.048371 | 0.026456 | 0.07248 | GENE1745 | splice_donor_variant | LOW | Low/Modifier Impact | false |
chr17 | 56,551,641 | 56,551,641 | C | T | chr17_56551641_C_T | 0.009027 | 0.005777 | 0.009079 | Unknown | true | |||
chr15 | 99,159,795 | 99,159,795 | G | A | rs187357078 | 0.006771 | 0.008473 | 0.00532 | Unknown | true | |||
chr5 | 36,061,494 | 36,061,494 | T | C | rs566160397 | 0.036407 | 0.049506 | 0.032788 | GENE1081 | start_lost | MODIFIER | Low/Modifier Impact | false |
chr21 | 40,227,887 | 40,227,887 | C | A | rs908999766 | 0.025446 | 0.018021 | 0.016343 | Unknown | false | |||
chr8 | 14,747,542 | 14,747,542 | A | T | chr8_14747542_A_T | 0.04212 | 0.027277 | 0.028817 | GENE1909 | stop_lost | MODIFIER | Low/Modifier Impact | false |
chr6 | 19,786,195 | 19,786,195 | A | T | rs795104405 | 0.049304 | 0.026867 | 0.060999 | GENE673 | frameshift_variant | MODIFIER | Low/Modifier Impact | false |
chr5 | 141,223,470 | 141,223,470 | C | G | chr5_141223470_C_G | 0.04562 | 0.057312 | 0.024395 | Unknown | false | |||
chr12 | 66,097,185 | 66,097,185 | C | A | chr12_66097185_C_A | 0.017795 | 0.019671 | 0.011 | GENE209 | intron_variant | MODIFIER | Low/Modifier Impact | false |
chr15 | 31,064,026 | 31,064,026 | T | C | rs938938970 | 0.007456 | 0.010112 | 0.004805 | Unknown | true | |||
chrX | 153,397,986 | 153,397,986 | C | G | rs623662390 | 0.264535 | 0.165221 | 0.345485 | GENE1324 | frameshift_variant | MODERATE | Moderate Impact | false |
chr21 | 9,997,456 | 9,997,456 | G | T | rs727857219 | 0.026372 | 0.024412 | 0.024185 | GENE303 | downstream_gene_variant | LOW | Low/Modifier Impact | false |
chr3 | 27,558,111 | 27,558,111 | C | G | chr3_27558111_C_G | 0.042446 | 0.063461 | 0.040686 | Unknown | false | |||
chr7 | 139,851,166 | 139,851,166 | G | A | chr7_139851166_G_A | 0.019057 | 0.019304 | 0.011546 | GENE1639 | upstream_gene_variant | LOW | Low/Modifier Impact | false |
chr22 | 23,131,311 | 23,131,311 | C | A | rs374475396 | 0.014269 | 0.018251 | 0.01745 | GENE1260 | upstream_gene_variant | LOW | Low/Modifier Impact | false |
chr10 | 111,191,242 | 111,191,242 | T | A | rs586751786 | 0.025724 | 0.013577 | 0.027813 | Unknown | false | |||
chr3 | 16,169,681 | 16,169,681 | T | A | rs61260981 | 0.00759 | 0.004999 | 0.006564 | GENE871 | downstream_gene_variant | MODIFIER | Low/Modifier Impact | true |
chr16 | 47,689,637 | 47,689,637 | G | A | rs939405903 | 0.002888 | 0.003325 | 0.00314 | GENE295 | stop_gained | LOW | Low/Modifier Impact | true |
chr18 | 43,882,884 | 43,882,884 | T | G | chr18_43882884_T_G | 0.046805 | 0.02356 | 0.06014 | GENE203 | splice_donor_variant | MODIFIER | Low/Modifier Impact | false |
chr4 | 26,415,168 | 26,415,168 | C | G | rs68860684 | 0.011122 | 0.014548 | 0.015958 | GENE1495 | frameshift_variant | MODIFIER | Low/Modifier Impact | false |
chrX | 28,359,070 | 28,359,070 | A | T | chrX_28359070_A_T | 0.018347 | 0.019083 | 0.011421 | Unknown | false | |||
chrY | 47,526,689 | 47,526,689 | C | G | rs518303367 | 0.025537 | 0.035482 | 0.020566 | Unknown | false | |||
chr3 | 30,125,745 | 30,125,745 | C | G | chr3_30125745_C_G | 0.030166 | 0.029941 | 0.037421 | GENE139 | splice_donor_variant | MODIFIER | Low/Modifier Impact | false |
chr11 | 55,248,347 | 55,248,347 | A | G | chr11_55248347_A_G | 0.028636 | 0.033721 | 0.024979 | Unknown | false | |||
chr11 | 21,823,990 | 21,823,990 | C | A | rs798287269 | 0.048291 | 0.049124 | 0.041465 | GENE1135 | splice_acceptor_variant | MODIFIER | Low/Modifier Impact | false |
chr11 | 65,081,739 | 65,081,739 | G | C | chr11_65081739_G_C | 0.40918 | 0.264405 | 0.241101 | Unknown | false | |||
chr1 | 82,925,272 | 82,925,272 | A | C | rs926493239 | 0.022147 | 0.013888 | 0.014598 | GENE2 | upstream_gene_variant | MODIFIER | Low/Modifier Impact | false |
chr1 | 48,779,726 | 48,779,726 | T | A | chr1_48779726_T_A | 0.000638 | 0.000807 | 0.00089 | GENE1879 | 3_prime_UTR_variant | MODIFIER | Low/Modifier Impact | true |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.