chrom stringclasses 12
values | pos int64 36.1k 249M | ref stringclasses 4
values | alt stringclasses 4
values | label bool 2
classes | subset stringclasses 8
values | match_group int64 0 2.16k | rsid stringlengths 3 15 | pip float64 0 1 | traits stringclasses 279
values | MAF float64 0 0.5 | ld_score float64 1.01 3.79k | consequence stringclasses 13
values | consequence_cre stringclasses 29
values | exon_closest_pc_gene_id stringlengths 15 15 | distance_exon_pc int64 0 1.68M | exon_closest_nc_gene_id stringlengths 15 15 | distance_exon_nc int64 0 507k | distance_exon int64 0 507k | exon_closest_gene_id stringlengths 15 15 | consequence_final stringclasses 28
values | tss_closest_pc_gene_id stringlengths 15 15 | distance_tss_pc int64 0 1.69M | tss_closest_nc_gene_id stringlengths 15 15 | distance_tss_nc int64 0 531k | distance_tss int64 0 531k | tss_closest_gene_id stringlengths 15 15 | consequence_group stringclasses 8
values | distance_tss_pc_bin stringclasses 4
values | distance_exon_pc_bin stringclasses 7
values |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
11 | 45,224,227 | G | T | false | missense_variant | 296 | rs35090414 | 0.000082 | 0.084043 | 93.099 | missense_variant | missense_variant | ENSG00000019485 | 0 | ENSG00000019485 | 1,767 | 0 | ENSG00000019485 | missense_variant | ENSG00000019505 | 61,696 | ENSG00000254664 | 11,064 | 11,064 | ENSG00000254664 | missense_variant | NA | NA | |
11 | 45,241,789 | C | T | false | 3_prime_UTR_variant | 394 | rs3180446 | 0.004932 | 0.34478 | 125.54 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000019505 | 0 | ENSG00000019505 | 1,911 | 0 | ENSG00000019505 | 3_prime_UTR_variant | ENSG00000019505 | 44,134 | ENSG00000254664 | 6,496 | 6,496 | ENSG00000254664 | 3_prime_UTR_variant | NA | NA | |
11 | 45,306,166 | T | A | false | distal | 319 | rs117322817 | 0.000038 | 0.018421 | 35.994 | intergenic_variant | dELS | ENSG00000019505 | 19,824 | ENSG00000019505 | 20,098 | 19,824 | ENSG00000019505 | dELS | ENSG00000019505 | 19,824 | ENSG00000019505 | 20,098 | 19,824 | ENSG00000019505 | distal | NA | NA | |
11 | 45,855,978 | A | G | false | splicing | 405 | rs2292913 | 0.002639 | 0.05549 | 127.45 | splice_region_variant | splice_region_variant | ENSG00000121671 | 3 | ENSG00000121671 | 3 | 3 | ENSG00000121671 | splice_region_variant | ENSG00000121671 | 8,502 | ENSG00000121671 | 2,296 | 2,296 | ENSG00000121671 | splicing | NA | splicing:b0 | |
11 | 45,926,811 | A | G | false | missense_variant | 300 | rs140734305 | 0.000148 | 0.000564 | 6.7073 | missense_variant | missense_variant | ENSG00000165905 | 0 | ENSG00000165905 | 0 | 0 | ENSG00000165905 | missense_variant | ENSG00000165905 | 359 | ENSG00000165905 | 447 | 359 | ENSG00000165905 | missense_variant | NA | NA | |
11 | 46,367,331 | C | A | false | missense_variant | 317 | rs147007748 | 0.000035 | 0.007974 | 22.637 | missense_variant | missense_variant | ENSG00000149091 | 0 | ENSG00000149091 | 0 | 0 | ENSG00000149091 | missense_variant | ENSG00000149091 | 320 | ENSG00000149091 | 15 | 15 | ENSG00000149091 | missense_variant | NA | NA | |
11 | 46,434,894 | G | A | false | synonymous_variant | 286 | rs61999319 | 0.000111 | 0.023965 | 45.877 | synonymous_variant | synonymous_variant | ENSG00000110497 | 0 | ENSG00000110497 | 0 | 0 | ENSG00000110497 | synonymous_variant | ENSG00000110497 | 16,898 | ENSG00000244313 | 5,743 | 5,743 | ENSG00000244313 | synonymous_variant | NA | NA | |
11 | 46,473,752 | A | G | false | distal | 364 | rs11038900 | 0.004129 | 0.17174 | 378.53 | intron_variant | dELS_flank | ENSG00000110497 | 19,855 | ENSG00000110497 | 17,245 | 17,245 | ENSG00000110497 | dELS_flank | ENSG00000110497 | 55,756 | ENSG00000110497 | 20,140 | 20,140 | ENSG00000110497 | distal | NA | NA | |
11 | 46,894,628 | T | G | false | missense_variant | 311 | rs72897663 | 0.00031 | 0.042569 | 42.465 | missense_variant | missense_variant | ENSG00000134569 | 0 | ENSG00000134569 | 4,940 | 0 | ENSG00000134569 | missense_variant | ENSG00000134569 | 23,921 | ENSG00000134569 | 4,940 | 4,940 | ENSG00000134569 | missense_variant | NA | NA | |
11 | 47,166,860 | C | T | false | missense_variant | 289 | rs3740691 | 0.000481 | 0.32272 | 222.82 | missense_variant | missense_variant | ENSG00000149182 | 0 | ENSG00000149182 | 0 | 0 | ENSG00000149182 | missense_variant | ENSG00000149182 | 4,696 | ENSG00000149182 | 1,642 | 1,642 | ENSG00000149182 | missense_variant | NA | NA | |
11 | 47,216,129 | T | C | false | non_coding_transcript_exon_variant | 353 | rs2291120 | 0.001242 | 0.13475 | 80.572 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000134574 | 206 | ENSG00000134574 | 0 | 0 | ENSG00000134574 | non_coding_transcript_exon_variant | ENSG00000134574 | 991 | ENSG00000134574 | 783 | 783 | ENSG00000134574 | non_coding_transcript_exon_variant | NA | NA | |
11 | 47,268,596 | G | A | true | missense_variant | 300 | rs61731956 | 0.999995 | ApoA,HDLC | 0.000517 | 12.498 | missense_variant | missense_variant | ENSG00000025434 | 0 | ENSG00000025434 | 0 | 0 | ENSG00000025434 | missense_variant | ENSG00000110514 | 564 | ENSG00000025434 | 454 | 454 | ENSG00000025434 | missense_variant | NA | NA |
11 | 47,358,739 | A | G | false | missense_variant | 316 | rs182990413 | 0.000448 | 0.013675 | 22.74 | missense_variant | missense_variant | ENSG00000066336 | 0 | ENSG00000134571 | 6,036 | 0 | ENSG00000066336 | missense_variant | ENSG00000134571 | 6,036 | ENSG00000134571 | 6,036 | 6,036 | ENSG00000134571 | missense_variant | NA | NA | |
11 | 47,359,042 | G | A | true | distal | 358 | rs3740689 | 0.98703 | Mono | 0.41436 | 319.21 | intron_variant | dELS_flank | ENSG00000066336 | 35 | ENSG00000134571 | 6,339 | 35 | ENSG00000066336 | dELS_flank | ENSG00000134571 | 6,339 | ENSG00000134571 | 6,339 | 6,339 | ENSG00000134571 | distal | NA | NA |
11 | 47,425,651 | T | C | false | non_coding_transcript_exon_variant | 353 | rs17790804 | 0.00672 | 0.13282 | 502.9 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000165916 | 215 | ENSG00000165916 | 0 | 0 | ENSG00000165916 | non_coding_transcript_exon_variant | ENSG00000165916 | 564 | ENSG00000165916 | 546 | 546 | ENSG00000165916 | non_coding_transcript_exon_variant | NA | NA | |
11 | 47,654,618 | A | G | true | distal | 370 | rs7107356 | 0.98307 | PP | 0.49378 | 544.92 | intergenic_variant | intergenic_variant | ENSG00000165923 | 4,972 | ENSG00000165923 | 4,972 | 4,972 | ENSG00000165923 | intergenic_variant | ENSG00000109919 | 12,010 | ENSG00000109919 | 12,022 | 12,010 | ENSG00000109919 | distal | NA | NA |
11 | 47,679,976 | C | A | false | missense_variant | 314 | rs12286721 | 0.003357 | 0.44943 | 513.97 | missense_variant | missense_variant | ENSG00000165923 | 0 | ENSG00000165923 | 0 | 0 | ENSG00000165923 | missense_variant | ENSG00000165923 | 34,450 | ENSG00000165923 | 10,393 | 10,393 | ENSG00000165923 | missense_variant | NA | NA | |
11 | 47,835,701 | T | C | false | missense_variant | 314 | rs3816605 | 0.004258 | 0.45471 | 522.57 | missense_variant | missense_variant | ENSG00000030066 | 0 | ENSG00000030066 | 0 | 0 | ENSG00000030066 | missense_variant | ENSG00000030066 | 12,611 | ENSG00000271557 | 5,622 | 5,622 | ENSG00000271557 | missense_variant | NA | NA | |
11 | 47,996,843 | G | A | false | distal | 338 | rs74679637 | 0.000153 | 0.041791 | 273.47 | intron_variant | dELS | ENSG00000149177 | 15,834 | ENSG00000254879 | 17,562 | 15,834 | ENSG00000149177 | dELS | ENSG00000149177 | 16,115 | ENSG00000254879 | 19,011 | 16,115 | ENSG00000149177 | distal | NA | NA | |
11 | 48,018,082 | T | C | false | distal | 334 | rs900699 | 0.000122 | 0.050096 | 283.4 | intron_variant | dELS | ENSG00000149177 | 37,073 | ENSG00000254879 | 2,226 | 2,226 | ENSG00000254879 | dELS | ENSG00000149177 | 37,354 | ENSG00000254879 | 2,226 | 2,226 | ENSG00000254879 | distal | NA | NA | |
11 | 48,144,715 | G | C | false | missense_variant | 298 | rs4752904 | 0.000378 | 0.43002 | 1,248.4 | missense_variant | missense_variant | ENSG00000149177 | 0 | ENSG00000149177 | 362 | 0 | ENSG00000149177 | missense_variant | ENSG00000175619 | 72,094 | ENSG00000149177 | 362 | 362 | ENSG00000149177 | missense_variant | NA | NA | |
11 | 48,712,387 | C | T | false | distal | 373 | rs59377893 | 0.000309 | 0.069855 | 635.02 | intergenic_variant | intergenic_variant | ENSG00000237388 | 222,664 | ENSG00000255053 | 83,893 | 83,893 | ENSG00000255053 | intergenic_variant | ENSG00000237388 | 223,593 | ENSG00000255053 | 84,840 | 84,840 | ENSG00000255053 | distal | NA | NA | |
11 | 48,978,951 | T | G | false | missense_variant | 301 | rs139591465 | 0.007061 | 0.070521 | 810.06 | missense_variant | missense_variant | ENSG00000220948 | 0 | ENSG00000254764 | 6,916 | 0 | ENSG00000220948 | missense_variant | ENSG00000220948 | 4,933 | ENSG00000254764 | 12,929 | 4,933 | ENSG00000220948 | missense_variant | NA | NA | |
11 | 48,993,016 | T | G | false | distal | 368 | rs113242436 | 0.000095 | 0.001696 | 23.876 | intergenic_variant | intergenic_variant | ENSG00000220948 | 9,130 | ENSG00000254764 | 1,134 | 1,134 | ENSG00000254764 | intergenic_variant | ENSG00000220948 | 9,130 | ENSG00000254764 | 1,134 | 1,134 | ENSG00000254764 | distal | NA | NA | |
11 | 49,054,069 | G | A | false | missense_variant | 310 | rs61886906 | 0.000088 | 0.056148 | 1,184.8 | missense_variant | missense_variant | ENSG00000214891 | 0 | ENSG00000288434 | 3,909 | 0 | ENSG00000214891 | missense_variant | ENSG00000214891 | 5,042 | ENSG00000288434 | 3,909 | 3,909 | ENSG00000288434 | missense_variant | NA | NA | |
11 | 49,164,722 | G | A | false | missense_variant | 296 | rs61886492 | 0.000058 | 0.052147 | 1,154.7 | missense_variant | missense_variant | ENSG00000086205 | 0 | ENSG00000086205 | 0 | 0 | ENSG00000086205 | missense_variant | ENSG00000086205 | 43,437 | ENSG00000086205 | 7,968 | 7,968 | ENSG00000086205 | missense_variant | NA | NA | |
11 | 49,192,496 | C | A | false | distal | 341 | rs588458 | 0.000185 | 0.41764 | 1,654.6 | intron_variant | dELS | ENSG00000086205 | 296 | ENSG00000086205 | 257 | 257 | ENSG00000086205 | dELS | ENSG00000086205 | 15,663 | ENSG00000086205 | 5,727 | 5,727 | ENSG00000086205 | distal | NA | NA | |
11 | 49,207,883 | C | G | false | missense_variant | 290 | rs61886516 | 0.00003 | 0.034856 | 777.43 | missense_variant | missense_variant | ENSG00000086205 | 0 | ENSG00000086205 | 0 | 0 | ENSG00000086205 | missense_variant | ENSG00000086205 | 276 | ENSG00000086205 | 443 | 276 | ENSG00000086205 | missense_variant | NA | NA | |
11 | 54,897,749 | A | G | false | distal | 371 | rs8189355 | 0.000266 | 0.16943 | 936.01 | intergenic_variant | intergenic_variant | ENSG00000221840 | 189,846 | ENSG00000255078 | 171,932 | 171,932 | ENSG00000255078 | intergenic_variant | ENSG00000221840 | 190,916 | ENSG00000255078 | 172,901 | 172,901 | ENSG00000255078 | distal | NA | NA | |
11 | 54,898,533 | G | A | false | distal | 371 | rs11525508 | 0.000089 | 0.1354 | 794.33 | intergenic_variant | intergenic_variant | ENSG00000221840 | 190,630 | ENSG00000255078 | 172,716 | 172,716 | ENSG00000255078 | intergenic_variant | ENSG00000221840 | 191,700 | ENSG00000255078 | 173,685 | 173,685 | ENSG00000255078 | distal | NA | NA | |
11 | 55,087,744 | A | C | false | distal | 371 | rs11229155 | 0.000504 | 0.17349 | 1,168.9 | intergenic_variant | intergenic_variant | ENSG00000150244 | 174,410 | ENSG00000255543 | 179,663 | 174,410 | ENSG00000150244 | intergenic_variant | ENSG00000150244 | 174,410 | ENSG00000255543 | 179,663 | 174,410 | ENSG00000150244 | distal | NA | NA | |
11 | 55,090,597 | C | T | false | distal | 371 | rs56152290 | 0.000114 | 0.12311 | 891.97 | intergenic_variant | intergenic_variant | ENSG00000150244 | 171,557 | ENSG00000255543 | 176,810 | 171,557 | ENSG00000150244 | intergenic_variant | ENSG00000150244 | 171,557 | ENSG00000255543 | 176,810 | 171,557 | ENSG00000150244 | distal | NA | NA | |
11 | 55,090,724 | A | C | false | distal | 371 | rs2704125 | 0.005831 | 0.16889 | 514.49 | intergenic_variant | intergenic_variant | ENSG00000150244 | 171,430 | ENSG00000255543 | 176,683 | 171,430 | ENSG00000150244 | intergenic_variant | ENSG00000150244 | 171,430 | ENSG00000255543 | 176,683 | 171,430 | ENSG00000150244 | distal | NA | NA | |
11 | 55,093,231 | T | C | false | distal | 371 | rs11229452 | 0.000526 | 0.1732 | 1,177.1 | intergenic_variant | intergenic_variant | ENSG00000150244 | 168,923 | ENSG00000255543 | 174,176 | 168,923 | ENSG00000150244 | intergenic_variant | ENSG00000150244 | 168,923 | ENSG00000255543 | 174,176 | 168,923 | ENSG00000150244 | distal | NA | NA | |
11 | 55,093,446 | C | T | true | distal | 371 | rs12362717 | 0.9965 | Height | 0.16358 | 290.28 | intergenic_variant | intergenic_variant | ENSG00000150244 | 168,708 | ENSG00000255543 | 173,961 | 168,708 | ENSG00000150244 | intergenic_variant | ENSG00000150244 | 168,708 | ENSG00000255543 | 173,961 | 168,708 | ENSG00000150244 | distal | NA | NA |
11 | 55,093,509 | G | T | false | distal | 371 | rs9705247 | 0.000485 | 0.20383 | 502.76 | intergenic_variant | intergenic_variant | ENSG00000150244 | 168,645 | ENSG00000255543 | 173,898 | 168,645 | ENSG00000150244 | intergenic_variant | ENSG00000150244 | 168,645 | ENSG00000255543 | 173,898 | 168,645 | ENSG00000150244 | distal | NA | NA | |
11 | 55,096,451 | A | T | false | distal | 371 | rs2335119 | 0.00048 | 0.20399 | 504.82 | intergenic_variant | intergenic_variant | ENSG00000150244 | 165,703 | ENSG00000255543 | 170,956 | 165,703 | ENSG00000150244 | intergenic_variant | ENSG00000150244 | 165,703 | ENSG00000255543 | 170,956 | 165,703 | ENSG00000150244 | distal | NA | NA | |
11 | 55,096,660 | C | T | false | distal | 371 | rs35995906 | 0.000114 | 0.12324 | 894.9 | intergenic_variant | intergenic_variant | ENSG00000150244 | 165,494 | ENSG00000255543 | 170,747 | 165,494 | ENSG00000150244 | intergenic_variant | ENSG00000150244 | 165,494 | ENSG00000255543 | 170,747 | 165,494 | ENSG00000150244 | distal | NA | NA | |
11 | 55,368,743 | C | T | false | missense_variant | 309 | rs7927370 | 0.000258 | 0.060673 | 3,046.3 | missense_variant | missense_variant | ENSG00000181958 | 0 | ENSG00000254891 | 19,785 | 0 | ENSG00000181958 | missense_variant | ENSG00000181958 | 768 | ENSG00000254891 | 19,785 | 768 | ENSG00000181958 | missense_variant | NA | NA | |
11 | 55,606,755 | C | T | false | tss_proximal | 403 | rs150922252 | 0.000034 | 0.001968 | 36.333 | intron_variant | intron_variant | ENSG00000172188 | 75 | ENSG00000254841 | 66,780 | 75 | ENSG00000172188 | tss_proximal | ENSG00000172188 | 889 | ENSG00000254841 | 66,780 | 889 | ENSG00000172188 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
11 | 55,651,487 | T | G | false | missense_variant | 309 | rs7949664 | 0.000343 | 0.075852 | 3,243 | missense_variant | missense_variant | ENSG00000174982 | 0 | ENSG00000254841 | 22,048 | 0 | ENSG00000174982 | missense_variant | ENSG00000174982 | 3,159 | ENSG00000254841 | 22,048 | 3,159 | ENSG00000174982 | missense_variant | NA | NA | |
11 | 55,739,824 | C | T | false | distal | 369 | rs71488987 | 0.002253 | 0.007355 | 144.22 | intergenic_variant | intergenic_variant | ENSG00000186886 | 10,202 | ENSG00000181837 | 15,152 | 10,202 | ENSG00000186886 | intergenic_variant | ENSG00000186886 | 16,047 | ENSG00000181837 | 15,152 | 15,152 | ENSG00000181837 | distal | NA | NA | |
11 | 55,891,274 | A | C | false | missense_variant | 301 | rs61897550 | 0.000085 | 0.081424 | 3,547.9 | missense_variant | missense_variant | ENSG00000124900 | 0 | ENSG00000255204 | 10,030 | 0 | ENSG00000124900 | missense_variant | ENSG00000124900 | 5,353 | ENSG00000227806 | 13,003 | 5,353 | ENSG00000124900 | missense_variant | NA | NA | |
11 | 55,913,673 | G | C | false | missense_variant | 301 | rs62639688 | 0.000086 | 0.081427 | 3,549.1 | missense_variant | missense_variant | ENSG00000187612 | 0 | ENSG00000227806 | 9,394 | 0 | ENSG00000187612 | missense_variant | ENSG00000187612 | 908 | ENSG00000227806 | 9,394 | 908 | ENSG00000187612 | missense_variant | NA | NA | |
11 | 55,913,940 | A | G | false | missense_variant | 301 | rs17596422 | 0.000083 | 0.081576 | 3,542.1 | missense_variant | missense_variant | ENSG00000187612 | 0 | ENSG00000227806 | 9,661 | 0 | ENSG00000187612 | missense_variant | ENSG00000187612 | 641 | ENSG00000227806 | 9,661 | 641 | ENSG00000187612 | missense_variant | NA | NA | |
11 | 55,914,104 | A | G | false | missense_variant | 301 | rs17596519 | 0.000085 | 0.081487 | 3,546.1 | missense_variant | missense_variant | ENSG00000187612 | 0 | ENSG00000227806 | 9,825 | 0 | ENSG00000187612 | missense_variant | ENSG00000187612 | 477 | ENSG00000227806 | 9,825 | 477 | ENSG00000187612 | missense_variant | NA | NA | |
11 | 55,914,466 | G | T | false | missense_variant | 301 | rs17511797 | 0.00006 | 0.081553 | 3,509.5 | missense_variant | missense_variant | ENSG00000187612 | 0 | ENSG00000227806 | 10,187 | 0 | ENSG00000187612 | missense_variant | ENSG00000187612 | 115 | ENSG00000227806 | 10,187 | 115 | ENSG00000187612 | missense_variant | NA | NA | |
11 | 55,968,042 | G | A | false | missense_variant | 301 | rs61896165 | 0.000079 | 0.081667 | 3,546.3 | missense_variant | missense_variant | ENSG00000174970 | 0 | ENSG00000254807 | 10,411 | 0 | ENSG00000174970 | missense_variant | ENSG00000174970 | 471 | ENSG00000254807 | 10,411 | 471 | ENSG00000174970 | missense_variant | NA | NA | |
11 | 55,968,173 | C | A | false | missense_variant | 301 | rs61896167 | 0.000077 | 0.081659 | 3,542.5 | missense_variant | missense_variant | ENSG00000174970 | 0 | ENSG00000254807 | 10,542 | 0 | ENSG00000174970 | missense_variant | ENSG00000174970 | 340 | ENSG00000254807 | 10,542 | 340 | ENSG00000174970 | missense_variant | NA | NA | |
11 | 56,017,091 | A | G | false | distal | 368 | rs539190523 | 0.000029 | 0.001799 | 25.239 | intergenic_variant | intergenic_variant | ENSG00000181785 | 10,562 | ENSG00000182365 | 1,133 | 1,133 | ENSG00000182365 | intergenic_variant | ENSG00000181785 | 10,562 | ENSG00000182365 | 1,133 | 1,133 | ENSG00000182365 | distal | NA | NA | |
11 | 56,122,680 | G | T | false | missense_variant | 310 | rs61746202 | 0.000076 | 0.081686 | 3,418.1 | missense_variant | missense_variant | ENSG00000181761 | 0 | ENSG00000255140 | 5,423 | 0 | ENSG00000181761 | missense_variant | ENSG00000181761 | 306 | ENSG00000255140 | 5,423 | 306 | ENSG00000181761 | missense_variant | NA | NA | |
11 | 56,138,496 | T | C | false | splicing | 405 | rs2449138 | 0.000073 | 0.081883 | 3,395.6 | splice_region_variant | splice_region_variant | ENSG00000167822 | 0 | ENSG00000167822 | 1,457 | 0 | ENSG00000167822 | splice_region_variant | ENSG00000167822 | 1,704 | ENSG00000167822 | 1,704 | 1,704 | ENSG00000167822 | splicing | NA | splicing:b0 | |
11 | 56,290,882 | A | G | false | missense_variant | 316 | rs114602656 | 0.00012 | 0.018362 | 121.69 | missense_variant | missense_variant | ENSG00000181693 | 0 | ENSG00000255461 | 5,658 | 0 | ENSG00000181693 | missense_variant | ENSG00000181693 | 207 | ENSG00000255461 | 6,588 | 207 | ENSG00000181693 | missense_variant | NA | NA | |
11 | 56,376,116 | C | T | false | missense_variant | 287 | rs17150411 | 0.002223 | 0.29672 | 832.26 | missense_variant | missense_variant | ENSG00000172199 | 0 | ENSG00000254903 | 5,518 | 0 | ENSG00000172199 | missense_variant | ENSG00000172199 | 491 | ENSG00000254903 | 5,518 | 491 | ENSG00000172199 | missense_variant | NA | NA | |
11 | 56,417,871 | T | C | false | missense_variant | 310 | rs7111634 | 0.000087 | 0.080907 | 2,874.8 | missense_variant | missense_variant | ENSG00000279961 | 0 | ENSG00000272987 | 4,190 | 0 | ENSG00000279961 | missense_variant | ENSG00000279961 | 360 | ENSG00000272987 | 5,174 | 360 | ENSG00000279961 | missense_variant | NA | NA | |
11 | 56,417,925 | C | T | false | missense_variant | 310 | rs7123108 | 0.000084 | 0.08089 | 2,875.6 | missense_variant | missense_variant | ENSG00000279961 | 0 | ENSG00000272987 | 4,244 | 0 | ENSG00000279961 | missense_variant | ENSG00000279961 | 306 | ENSG00000272987 | 5,228 | 306 | ENSG00000279961 | missense_variant | NA | NA | |
11 | 56,613,495 | G | A | false | missense_variant | 316 | rs151301846 | 0.00004 | 0.017517 | 482.78 | missense_variant | missense_variant | ENSG00000255012 | 0 | ENSG00000255172 | 6,283 | 0 | ENSG00000255012 | missense_variant | ENSG00000255012 | 1,378 | ENSG00000255172 | 7,314 | 1,378 | ENSG00000255012 | missense_variant | NA | NA | |
11 | 56,700,892 | C | T | false | missense_variant | 301 | rs11228733 | 0.007705 | 0.08548 | 321.06 | missense_variant | missense_variant | ENSG00000174914 | 0 | ENSG00000238041 | 10,168 | 0 | ENSG00000174914 | missense_variant | ENSG00000174914 | 1,796 | ENSG00000238041 | 10,426 | 1,796 | ENSG00000174914 | missense_variant | NA | NA | |
11 | 56,743,147 | A | G | false | missense_variant | 289 | rs513873 | 0.000968 | 0.31953 | 468.52 | missense_variant | missense_variant | ENSG00000172457 | 0 | ENSG00000172457 | 0 | 0 | ENSG00000172457 | missense_variant | ENSG00000172457 | 5,548 | ENSG00000274770 | 725 | 725 | ENSG00000274770 | missense_variant | NA | NA | |
11 | 56,743,878 | G | A | false | non_coding_transcript_exon_variant | 349 | rs67042258 | 0.000066 | 0.25866 | 456.88 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000172457 | 89 | ENSG00000274770 | 0 | 0 | ENSG00000274770 | non_coding_transcript_exon_variant | ENSG00000172457 | 4,817 | ENSG00000274770 | 4 | 4 | ENSG00000274770 | non_coding_transcript_exon_variant | NA | NA | |
11 | 56,745,419 | A | G | false | distal | 384 | rs12417975 | 0.000068 | 0.25868 | 453.21 | intron_variant | intron_variant | ENSG00000172457 | 1,630 | ENSG00000274770 | 1,437 | 1,437 | ENSG00000274770 | intron_variant | ENSG00000172457 | 3,276 | ENSG00000274770 | 1,545 | 1,545 | ENSG00000274770 | distal | NA | NA | |
11 | 56,962,764 | C | T | true | distal | 372 | rs148496057 | 0.99256 | HDLC | 0.003961 | 15.638 | intergenic_variant | intergenic_variant | ENSG00000181273 | 26,149 | ENSG00000181282 | 8,285 | 8,285 | ENSG00000181282 | intergenic_variant | ENSG00000181273 | 26,149 | ENSG00000181282 | 8,285 | 8,285 | ENSG00000181282 | distal | NA | NA |
11 | 57,236,848 | C | T | false | missense_variant | 300 | rs145108815 | 0.00014 | 0.000463 | 5.9912 | missense_variant | missense_variant | ENSG00000134817 | 0 | ENSG00000134817 | 0 | 0 | ENSG00000134817 | missense_variant | ENSG00000134817 | 401 | ENSG00000134817 | 386 | 386 | ENSG00000134817 | missense_variant | NA | NA | |
11 | 57,310,403 | C | T | false | missense_variant | 307 | rs79359831 | 0.000042 | 0.000058 | 38.286 | missense_variant | missense_variant | ENSG00000149115 | 0 | ENSG00000149115 | 0 | 0 | ENSG00000149115 | missense_variant | ENSG00000149115 | 1,065 | ENSG00000149115 | 6,923 | 1,065 | ENSG00000149115 | missense_variant | NA | NA | |
11 | 57,311,480 | C | T | false | tss_proximal | 355 | rs3935069 | 0.001079 | 0.45743 | 207.31 | intron_variant | dELS | ENSG00000149115 | 10 | ENSG00000149115 | 923 | 10 | ENSG00000149115 | tss_proximal | ENSG00000149115 | 10 | ENSG00000149115 | 8,000 | 10 | ENSG00000149115 | tss_proximal | tss_prox:b0 | tss_prox:b0 | |
11 | 57,313,723 | G | C | false | missense_variant | 314 | rs4939134 | 0.000464 | 0.46718 | 177.72 | missense_variant | missense_variant | ENSG00000149115 | 0 | ENSG00000149115 | 0 | 0 | ENSG00000149115 | missense_variant | ENSG00000149115 | 2,253 | ENSG00000149115 | 10,243 | 2,253 | ENSG00000149115 | missense_variant | NA | NA | |
11 | 57,378,752 | A | G | true | missense_variant | 301 | rs34108746 | 0.976165 | Eosino | 0.078008 | 51.108 | missense_variant | missense_variant | ENSG00000156575 | 0 | ENSG00000254979 | 8,612 | 0 | ENSG00000156575 | missense_variant | ENSG00000156575 | 2,397 | ENSG00000186652 | 11,876 | 2,397 | ENSG00000156575 | missense_variant | NA | NA |
11 | 57,410,120 | A | G | false | splicing | 406 | rs62640922 | 0.002385 | 0.044116 | 103.24 | splice_region_variant | splice_region_variant | ENSG00000134802 | 0 | ENSG00000134802 | 821 | 0 | ENSG00000134802 | splice_region_variant | ENSG00000254979 | 6 | ENSG00000134802 | 1,370 | 6 | ENSG00000254979 | splicing | NA | splicing:b0 | |
11 | 57,426,445 | G | A | false | non_coding_transcript_exon_variant | 349 | rs11229028 | 0.000378 | 0.25411 | 130.93 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000134802 | 55 | ENSG00000134802 | 0 | 0 | ENSG00000134802 | non_coding_transcript_exon_variant | ENSG00000134802 | 206 | ENSG00000134802 | 33 | 33 | ENSG00000134802 | non_coding_transcript_exon_variant | NA | NA | |
11 | 57,449,174 | A | G | false | distal | 368 | rs529647866 | 0.000101 | 0.001201 | 25.458 | intergenic_variant | intergenic_variant | ENSG00000186907 | 11,353 | ENSG00000252070 | 1,008 | 1,008 | ENSG00000252070 | intergenic_variant | ENSG00000186907 | 11,353 | ENSG00000252070 | 1,008 | 1,008 | ENSG00000252070 | distal | NA | NA | |
11 | 57,500,779 | C | T | false | splicing | 406 | rs112450479 | 0.003125 | 0.04039 | 107.64 | splice_region_variant | splice_region_variant | ENSG00000149150 | 0 | ENSG00000149150 | 0 | 0 | ENSG00000149150 | splice_region_variant | ENSG00000149150 | 539 | ENSG00000149150 | 1,101 | 539 | ENSG00000149150 | splicing | NA | splicing:b0 | |
11 | 57,537,364 | C | T | false | tss_proximal | 377 | rs75617847 | 0.001404 | 0.094808 | 80.631 | upstream_gene_variant | PLS | ENSG00000214872 | 230 | ENSG00000265566 | 8,998 | 230 | ENSG00000214872 | tss_proximal | ENSG00000214872 | 230 | ENSG00000265566 | 8,998 | 230 | ENSG00000214872 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
11 | 57,552,877 | A | G | false | distal | 341 | rs2649656 | 0.000208 | 0.4274 | 172.33 | intron_variant | dELS | ENSG00000156587 | 367 | ENSG00000156587 | 367 | 367 | ENSG00000156587 | dELS | ENSG00000156587 | 14,425 | ENSG00000156587 | 7,638 | 7,638 | ENSG00000156587 | distal | NA | NA | |
11 | 57,712,035 | C | A | false | missense_variant | 302 | rs199862897 | 0.000088 | 0.004299 | 16.166 | missense_variant | missense_variant | ENSG00000156603 | 0 | ENSG00000156603 | 0 | 0 | ENSG00000156603 | missense_variant | ENSG00000156603 | 179 | ENSG00000156603 | 171 | 171 | ENSG00000156603 | missense_variant | NA | NA | |
11 | 57,741,925 | A | T | false | missense_variant | 302 | rs185768359 | 0.000327 | 0.00383 | 27.718 | missense_variant | missense_variant | ENSG00000211450 | 0 | ENSG00000211450 | 0 | 0 | ENSG00000211450 | missense_variant | ENSG00000211450 | 242 | ENSG00000254732 | 145 | 145 | ENSG00000254732 | missense_variant | NA | NA | |
11 | 58,031,251 | A | G | false | missense_variant | 287 | rs921135 | 0.000221 | 0.29503 | 362.93 | missense_variant | missense_variant | ENSG00000279051 | 0 | ENSG00000200817 | 4,438 | 0 | ENSG00000279051 | missense_variant | ENSG00000279051 | 297 | ENSG00000200817 | 4,438 | 297 | ENSG00000279051 | missense_variant | NA | NA | |
11 | 58,031,470 | A | G | false | missense_variant | 287 | rs2513726 | 0.000246 | 0.29524 | 362.47 | missense_variant | missense_variant | ENSG00000279051 | 0 | ENSG00000200817 | 4,657 | 0 | ENSG00000279051 | missense_variant | ENSG00000279051 | 516 | ENSG00000200817 | 4,657 | 516 | ENSG00000279051 | missense_variant | NA | NA | |
11 | 58,368,287 | T | C | false | distal | 368 | rs140382058 | 0.000104 | 0.003929 | 20.137 | intergenic_variant | intergenic_variant | ENSG00000197786 | 9,217 | ENSG00000233499 | 1,523 | 1,523 | ENSG00000233499 | intergenic_variant | ENSG00000197786 | 9,217 | ENSG00000233499 | 1,523 | 1,523 | ENSG00000233499 | distal | NA | NA | |
11 | 58,532,000 | C | G | false | distal | 320 | rs2515352 | 0.000952 | 0.41077 | 490.42 | intron_variant | dELS | ENSG00000110031 | 3,808 | ENSG00000110031 | 3,808 | 3,808 | ENSG00000110031 | dELS | ENSG00000198283 | 23,894 | ENSG00000255299 | 26,241 | 23,894 | ENSG00000198283 | distal | NA | NA | |
11 | 58,588,119 | A | T | false | distal | 383 | rs189807675 | 0.000026 | 0.000972 | 10.578 | intron_variant | intron_variant | ENSG00000186660 | 3,234 | ENSG00000255073 | 3,234 | 3,234 | ENSG00000186660 | intron_variant | ENSG00000186660 | 9,055 | ENSG00000255073 | 8,946 | 8,946 | ENSG00000255073 | distal | NA | NA | |
11 | 58,654,340 | C | T | false | distal | 344 | rs187777786 | 0.000048 | 0.012589 | 55.767 | intron_variant | dELS | ENSG00000149124 | 11,084 | ENSG00000280010 | 25,811 | 11,084 | ENSG00000149124 | dELS | ENSG00000242689 | 31,674 | ENSG00000280010 | 26,904 | 26,904 | ENSG00000280010 | distal | NA | NA | |
11 | 58,728,371 | A | T | false | tss_proximal | 380 | rs11229602 | 0.000048 | 0.14663 | 317.24 | intron_variant | PLS_flank | ENSG00000149124 | 292 | ENSG00000149124 | 3,463 | 292 | ENSG00000149124 | tss_proximal | ENSG00000149124 | 357 | ENSG00000149124 | 3,556 | 357 | ENSG00000149124 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
11 | 58,772,053 | A | T | false | distal | 398 | rs4373954 | 0.000043 | 0.15631 | 319.68 | intron_variant | pELS | ENSG00000149124 | 40,078 | ENSG00000289621 | 1,217 | 1,217 | ENSG00000289621 | pELS | ENSG00000149124 | 40,078 | ENSG00000289621 | 1,639 | 1,639 | ENSG00000289621 | distal | NA | NA | |
11 | 58,880,972 | A | G | false | distal | 334 | rs678727 | 0.000101 | 0.04025 | 328.71 | intron_variant | dELS | ENSG00000156689 | 36,267 | ENSG00000254717 | 2,590 | 2,590 | ENSG00000254717 | dELS | ENSG00000156689 | 36,267 | ENSG00000254717 | 2,669 | 2,669 | ENSG00000254717 | distal | NA | NA | |
11 | 59,040,821 | C | T | false | distal | 398 | rs36110001 | 0.00033 | 0.18943 | 321.37 | intron_variant | pELS | ENSG00000255151 | 45,485 | ENSG00000254399 | 1,915 | 1,915 | ENSG00000254399 | pELS | ENSG00000255151 | 45,485 | ENSG00000254399 | 1,915 | 1,915 | ENSG00000254399 | distal | NA | NA | |
11 | 59,073,155 | T | C | false | distal | 369 | rs548200377 | 0.000054 | 0.006341 | 25.128 | intergenic_variant | intergenic_variant | ENSG00000255151 | 13,151 | ENSG00000255240 | 14,495 | 13,151 | ENSG00000255151 | intergenic_variant | ENSG00000255151 | 13,151 | ENSG00000255240 | 14,495 | 13,151 | ENSG00000255151 | distal | NA | NA | |
11 | 59,814,473 | G | T | false | distal | 365 | rs187149093 | 0.000044 | 0.001774 | 6.7958 | intergenic_variant | dELS_flank | ENSG00000166902 | 3,694 | ENSG00000166902 | 3,699 | 3,694 | ENSG00000166902 | dELS_flank | ENSG00000166902 | 3,694 | ENSG00000166902 | 3,699 | 3,694 | ENSG00000166902 | distal | NA | NA | |
11 | 59,864,062 | C | T | false | missense_variant | 306 | rs34528912 | 0.000077 | 0.038687 | 18.904 | missense_variant | missense_variant | ENSG00000134827 | 0 | ENSG00000134827 | 0 | 0 | ENSG00000134827 | missense_variant | ENSG00000134827 | 2,424 | ENSG00000134827 | 1,426 | 1,426 | ENSG00000134827 | missense_variant | NA | NA | |
11 | 59,895,590 | T | C | false | missense_variant | 311 | rs549236 | 0.000054 | 0.052284 | 18.136 | missense_variant | missense_variant | ENSG00000285231 | 0 | ENSG00000270929 | 2,594 | 0 | ENSG00000285231 | missense_variant | ENSG00000285231 | 16,807 | ENSG00000270929 | 2,594 | 2,594 | ENSG00000270929 | missense_variant | NA | NA | |
11 | 59,928,145 | G | A | false | distal | 369 | rs180843872 | 0.000316 | 0.003263 | 17.741 | intergenic_variant | intergenic_variant | ENSG00000284873 | 10,286 | ENSG00000214788 | 14,733 | 10,286 | ENSG00000284873 | intergenic_variant | ENSG00000284873 | 10,286 | ENSG00000214788 | 14,733 | 10,286 | ENSG00000284873 | distal | NA | NA | |
11 | 59,950,798 | C | T | false | distal | 383 | rs180859601 | 0.000067 | 0.001539 | 15.641 | intron_variant | intron_variant | ENSG00000284873 | 1,771 | ENSG00000214788 | 2,935 | 1,771 | ENSG00000284873 | intron_variant | ENSG00000284873 | 12,365 | ENSG00000214788 | 7,918 | 7,918 | ENSG00000214788 | distal | NA | NA | |
11 | 60,079,021 | A | G | false | distal | 402 | rs549680 | 0.005419 | 0.28344 | 202.03 | downstream_gene_variant | CA-TF | ENSG00000149516 | 7,905 | ENSG00000255331 | 619 | 619 | ENSG00000255331 | CA-TF | ENSG00000149534 | 9,239 | ENSG00000255331 | 1,670 | 1,670 | ENSG00000255331 | distal | NA | NA | |
11 | 60,086,840 | C | T | false | distal | 347 | rs10792255 | 0.000029 | 0.2908 | 198.1 | intergenic_variant | pELS_flank | ENSG00000149534 | 1,420 | ENSG00000149534 | 1,823 | 1,420 | ENSG00000149534 | pELS_flank | ENSG00000149534 | 1,420 | ENSG00000149534 | 1,823 | 1,420 | ENSG00000149534 | distal | NA | NA | |
11 | 60,088,555 | T | C | false | 5_prime_UTR_variant | 281 | rs1441586 | 0.000341 | 0.43456 | 295.57 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000149534 | 0 | ENSG00000149534 | 108 | 0 | ENSG00000149534 | 5_prime_UTR_variant | ENSG00000149534 | 108 | ENSG00000149534 | 108 | 108 | ENSG00000149534 | 5_prime_UTR_variant | NA | NA | |
11 | 60,200,893 | G | A | false | 3_prime_UTR_variant | 392 | rs181216218 | 0.000015 | 0.028417 | 47.181 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000214787 | 0 | ENSG00000214787 | 359 | 0 | ENSG00000214787 | 3_prime_UTR_variant | ENSG00000110079 | 14,852 | ENSG00000275344 | 8,262 | 8,262 | ENSG00000275344 | 3_prime_UTR_variant | NA | NA | |
11 | 60,208,640 | C | A | false | missense_variant | 297 | rs674971 | 0.0002 | 0.06253 | 121.58 | missense_variant | missense_variant | ENSG00000214787 | 0 | ENSG00000275344 | 430 | 0 | ENSG00000214787 | missense_variant | ENSG00000214787 | 21,414 | ENSG00000275344 | 515 | 515 | ENSG00000275344 | missense_variant | NA | NA | |
11 | 60,282,652 | A | G | false | missense_variant | 289 | rs10792260 | 0.00033 | 0.31668 | 117.73 | missense_variant | missense_variant | ENSG00000110079 | 1,935 | ENSG00000110079 | 0 | 0 | ENSG00000110079 | missense_variant | ENSG00000110079 | 1,985 | ENSG00000110079 | 1,982 | 1,982 | ENSG00000110079 | missense_variant | NA | NA | |
11 | 60,327,346 | C | T | false | 5_prime_UTR_variant | 280 | rs11230265 | 0.001074 | 0.36001 | 279.64 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000166926 | 0 | ENSG00000166926 | 7,624 | 0 | ENSG00000166926 | 5_prime_UTR_variant | ENSG00000166926 | 90 | ENSG00000166926 | 7,624 | 90 | ENSG00000166926 | 5_prime_UTR_variant | NA | NA | |
11 | 60,327,369 | C | T | false | 5_prime_UTR_variant | 280 | rs11230266 | 0.001069 | 0.36001 | 279.63 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000166926 | 0 | ENSG00000166926 | 7,601 | 0 | ENSG00000166926 | 5_prime_UTR_variant | ENSG00000166926 | 113 | ENSG00000166926 | 7,601 | 113 | ENSG00000166926 | 5_prime_UTR_variant | NA | NA | |
11 | 60,327,385 | C | T | false | 5_prime_UTR_variant | 280 | rs11230267 | 0.00108 | 0.36004 | 279.61 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000166926 | 0 | ENSG00000166926 | 7,585 | 0 | ENSG00000166926 | 5_prime_UTR_variant | ENSG00000166926 | 129 | ENSG00000166926 | 7,585 | 129 | ENSG00000166926 | 5_prime_UTR_variant | NA | NA |
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