chrom stringclasses 19
values | pos int64 90.7k 249M | ref stringclasses 4
values | alt stringclasses 4
values | OMIM stringclasses 113
values | consequence stringclasses 12
values | label bool 2
classes | tss_dist int64 0 372k | match_group stringclasses 338
values |
|---|---|---|---|---|---|---|---|---|
2 | 216,886,527 | T | C | null | non_coding_transcript_exon_variant | false | 26,462 | non_coding_transcript_exon_variant_19 |
2 | 216,886,823 | A | G | null | non_coding_transcript_exon_variant | false | 26,758 | non_coding_transcript_exon_variant_22 |
2 | 218,660,148 | A | G | MIM 124000 | 5_prime_UTR_variant | true | 110 | 5_prime_UTR_variant_80 |
2 | 219,434,819 | G | T | null | PLS | false | 23 | PLS_39 |
2 | 223,982,551 | T | C | null | non_coding_transcript_exon_variant | false | 25,087 | non_coding_transcript_exon_variant_22 |
2 | 227,718,030 | G | A | null | PLS | false | 1 | PLS_41 |
2 | 229,714,567 | G | C | null | PLS | false | 11 | PLS_40 |
2 | 230,176,390 | A | G | null | non_coding_transcript_exon_variant | false | 26,719 | non_coding_transcript_exon_variant_22 |
2 | 230,178,086 | C | T | null | non_coding_transcript_exon_variant | false | 25,023 | non_coding_transcript_exon_variant_22 |
2 | 231,198,864 | G | A | null | 5_prime_UTR_variant | false | 110 | 5_prime_UTR_variant_80 |
2 | 231,504,194 | A | G | null | non_coding_transcript_exon_variant | false | 26,250 | non_coding_transcript_exon_variant_15 |
2 | 231,530,546 | T | C | null | PLS | false | 100 | PLS_37 |
2 | 232,487,838 | G | T | null | PLS | false | 3 | PLS_41 |
2 | 232,857,383 | C | T | null | 5_prime_UTR_variant | false | 112 | 5_prime_UTR_variant_80 |
2 | 233,277,353 | G | A | null | non_coding_transcript_exon_variant | false | 25,638 | non_coding_transcript_exon_variant_10 |
2 | 233,464,121 | T | C | null | non_coding_transcript_exon_variant | false | 25,339 | non_coding_transcript_exon_variant_17 |
2 | 233,854,579 | T | C | null | PLS | false | 12 | PLS_40 |
2 | 233,854,580 | C | T | null | PLS | false | 13 | PLS_40 |
2 | 237,059,481 | A | C | null | non_coding_transcript_exon_variant | false | 26,400 | non_coding_transcript_exon_variant_18 |
2 | 237,059,484 | T | A | null | non_coding_transcript_exon_variant | false | 26,397 | non_coding_transcript_exon_variant_18 |
2 | 237,059,571 | A | G | null | non_coding_transcript_exon_variant | false | 26,310 | non_coding_transcript_exon_variant_16 |
2 | 237,059,663 | G | A | null | non_coding_transcript_exon_variant | false | 26,218 | non_coding_transcript_exon_variant_15 |
2 | 237,059,667 | T | C | null | non_coding_transcript_exon_variant | false | 26,214 | non_coding_transcript_exon_variant_14 |
2 | 237,059,702 | A | G | null | non_coding_transcript_exon_variant | false | 26,179 | non_coding_transcript_exon_variant_14 |
2 | 237,059,754 | T | A | null | non_coding_transcript_exon_variant | false | 26,127 | non_coding_transcript_exon_variant_13 |
2 | 237,059,778 | C | T | null | non_coding_transcript_exon_variant | false | 26,103 | non_coding_transcript_exon_variant_13 |
2 | 237,059,791 | T | C | null | non_coding_transcript_exon_variant | false | 26,090 | non_coding_transcript_exon_variant_12 |
2 | 237,487,228 | G | A | null | PLS | false | 22 | PLS_38 |
2 | 237,590,891 | C | T | null | 5_prime_UTR_variant | false | 110 | 5_prime_UTR_variant_80 |
2 | 237,692,142 | A | G | null | PLS | false | 2 | PLS_41 |
2 | 238,035,617 | A | G | null | non_coding_transcript_exon_variant | false | 25,306 | non_coding_transcript_exon_variant_17 |
2 | 238,035,722 | G | A | null | non_coding_transcript_exon_variant | false | 25,201 | non_coding_transcript_exon_variant_20 |
2 | 239,115,336 | G | A | null | non_coding_transcript_exon_variant | false | 25,636 | non_coding_transcript_exon_variant_10 |
2 | 240,109,731 | A | G | null | non_coding_transcript_exon_variant | false | 26,573 | non_coding_transcript_exon_variant_20 |
2 | 240,144,550 | C | A | null | 5_prime_UTR_variant | false | 11 | 5_prime_UTR_variant_82 |
2 | 240,586,750 | G | A | null | 5_prime_UTR_variant | false | 10 | 5_prime_UTR_variant_82 |
2 | 240,691,850 | A | G | null | PLS | false | 15 | PLS_39 |
2 | 241,592,107 | G | A | null | non_coding_transcript_exon_variant | false | 25,382 | non_coding_transcript_exon_variant_16 |
2 | 241,592,250 | G | A | null | non_coding_transcript_exon_variant | false | 25,239 | non_coding_transcript_exon_variant_19 |
2 | 241,687,064 | C | T | null | PLS | false | 20 | PLS_38 |
3 | 213,423 | A | G | null | non_coding_transcript_exon_variant | false | 4,111 | non_coding_transcript_exon_variant_41 |
3 | 384,380 | A | C | null | non_coding_transcript_exon_variant | false | 5,064 | non_coding_transcript_exon_variant_36 |
3 | 3,179,746 | C | T | null | PLS | false | 18 | PLS_46 |
3 | 3,804,151 | T | C | null | non_coding_transcript_exon_variant | false | 4,719 | non_coding_transcript_exon_variant_28 |
3 | 4,303,349 | G | A | null | 5_prime_UTR_variant | false | 11 | 5_prime_UTR_variant_86 |
3 | 8,497,554 | T | C | null | non_coding_transcript_exon_variant | false | 4,252 | non_coding_transcript_exon_variant_37 |
3 | 9,787,487 | G | A | null | non_coding_transcript_exon_variant | false | 4,985 | non_coding_transcript_exon_variant_29 |
3 | 9,787,542 | A | C | null | non_coding_transcript_exon_variant | false | 4,930 | non_coding_transcript_exon_variant_24 |
3 | 10,005,996 | A | G | null | non_coding_transcript_exon_variant | false | 5,119 | non_coding_transcript_exon_variant_41 |
3 | 10,006,291 | C | G | null | non_coding_transcript_exon_variant | false | 4,824 | non_coding_transcript_exon_variant_26 |
3 | 10,006,818 | C | T | null | non_coding_transcript_exon_variant | false | 4,297 | non_coding_transcript_exon_variant_36 |
3 | 10,006,917 | A | G | null | non_coding_transcript_exon_variant | false | 4,198 | non_coding_transcript_exon_variant_38 |
3 | 10,007,155 | C | G | null | non_coding_transcript_exon_variant | false | 3,960 | non_coding_transcript_exon_variant_45 |
3 | 10,007,201 | G | T | null | non_coding_transcript_exon_variant | false | 3,914 | non_coding_transcript_exon_variant_46 |
3 | 10,015,520 | C | T | null | non_coding_transcript_exon_variant | false | 4,336 | non_coding_transcript_exon_variant_35 |
3 | 10,248,460 | T | C | null | 5_prime_UTR_variant | false | 0 | 5_prime_UTR_variant_87 |
3 | 10,707,959 | C | T | null | 5_prime_UTR_variant | false | 47 | 5_prime_UTR_variant_85 |
3 | 11,015,683 | G | A | null | 5_prime_UTR_variant | false | 0 | 5_prime_UTR_variant_87 |
3 | 11,021,248 | G | A | null | non_coding_transcript_exon_variant | false | 3,844 | non_coding_transcript_exon_variant_48 |
3 | 11,021,488 | A | G | null | non_coding_transcript_exon_variant | false | 4,084 | non_coding_transcript_exon_variant_41 |
3 | 11,021,859 | G | A | null | non_coding_transcript_exon_variant | false | 4,455 | non_coding_transcript_exon_variant_33 |
3 | 12,484,507 | G | A | null | 5_prime_UTR_variant | false | 1 | 5_prime_UTR_variant_87 |
3 | 12,551,920 | A | T | null | non_coding_transcript_exon_variant | false | 5,166 | non_coding_transcript_exon_variant_43 |
3 | 12,599,926 | T | C | null | non_coding_transcript_exon_variant | false | 4,362 | non_coding_transcript_exon_variant_34 |
3 | 12,600,019 | A | G | null | non_coding_transcript_exon_variant | false | 4,269 | non_coding_transcript_exon_variant_37 |
3 | 12,832,445 | A | G | null | non_coding_transcript_exon_variant | false | 4,998 | non_coding_transcript_exon_variant_29 |
3 | 14,943,005 | T | C | null | non_coding_transcript_exon_variant | false | 4,577 | non_coding_transcript_exon_variant_31 |
3 | 14,943,110 | C | A | null | non_coding_transcript_exon_variant | false | 4,472 | non_coding_transcript_exon_variant_32 |
3 | 14,943,694 | G | A | null | non_coding_transcript_exon_variant | false | 3,888 | non_coding_transcript_exon_variant_47 |
3 | 14,947,778 | C | T | null | 5_prime_UTR_variant | false | 48 | 5_prime_UTR_variant_85 |
3 | 15,444,611 | T | C | null | non_coding_transcript_exon_variant | false | 4,044 | non_coding_transcript_exon_variant_43 |
3 | 15,503,022 | G | A | null | non_coding_transcript_exon_variant | false | 4,149 | non_coding_transcript_exon_variant_39 |
3 | 15,503,598 | C | T | null | non_coding_transcript_exon_variant | false | 4,725 | non_coding_transcript_exon_variant_28 |
3 | 15,503,703 | C | T | null | non_coding_transcript_exon_variant | false | 4,830 | non_coding_transcript_exon_variant_26 |
3 | 15,503,968 | C | G | null | non_coding_transcript_exon_variant | false | 5,095 | non_coding_transcript_exon_variant_39 |
3 | 15,606,497 | T | C | null | non_coding_transcript_exon_variant | false | 4,527 | non_coding_transcript_exon_variant_31 |
3 | 16,513,716 | C | T | null | PLS | false | 16 | PLS_46 |
3 | 19,951,890 | C | T | null | non_coding_transcript_exon_variant | false | 4,484 | non_coding_transcript_exon_variant_32 |
3 | 19,952,058 | T | C | null | non_coding_transcript_exon_variant | false | 4,652 | non_coding_transcript_exon_variant_29 |
3 | 19,952,181 | A | T | null | non_coding_transcript_exon_variant | false | 4,775 | non_coding_transcript_exon_variant_27 |
3 | 19,952,211 | A | G | null | non_coding_transcript_exon_variant | false | 4,805 | non_coding_transcript_exon_variant_26 |
3 | 25,777,784 | G | A | null | non_coding_transcript_exon_variant | false | 5,087 | non_coding_transcript_exon_variant_38 |
3 | 25,778,381 | T | C | null | non_coding_transcript_exon_variant | false | 4,490 | non_coding_transcript_exon_variant_32 |
3 | 26,618,403 | T | C | null | non_coding_transcript_exon_variant | false | 4,368 | non_coding_transcript_exon_variant_34 |
3 | 32,391,841 | C | A | null | 5_prime_UTR_variant | false | 11 | 5_prime_UTR_variant_86 |
3 | 33,794,249 | C | T | null | non_coding_transcript_exon_variant | false | 4,321 | non_coding_transcript_exon_variant_35 |
3 | 33,794,416 | T | C | null | non_coding_transcript_exon_variant | false | 4,154 | non_coding_transcript_exon_variant_39 |
3 | 36,768,539 | G | A | null | non_coding_transcript_exon_variant | false | 3,985 | non_coding_transcript_exon_variant_44 |
3 | 36,769,140 | C | T | null | non_coding_transcript_exon_variant | false | 4,586 | non_coding_transcript_exon_variant_30 |
3 | 36,993,441 | C | G | MIM 609310 | 5_prime_UTR_variant | true | 47 | 5_prime_UTR_variant_85 |
3 | 36,993,506 | C | T | MIM 609310 | 5_prime_UTR_variant | true | 11 | 5_prime_UTR_variant_86 |
3 | 36,993,521 | C | A | MIM 609310 | 5_prime_UTR_variant | true | 1 | 5_prime_UTR_variant_87 |
3 | 37,017,018 | A | G | null | PLS | false | 3,370 | PLS_47 |
3 | 37,170,481 | T | C | null | non_coding_transcript_exon_variant | false | 4,100 | non_coding_transcript_exon_variant_41 |
3 | 37,969,217 | T | C | null | PLS | false | 4,579 | PLS_47 |
3 | 37,969,336 | A | C | null | PLS | false | 4,698 | PLS_47 |
3 | 38,270,462 | C | T | null | non_coding_transcript_exon_variant | false | 4,649 | non_coding_transcript_exon_variant_29 |
3 | 39,102,108 | G | C | null | non_coding_transcript_exon_variant | false | 5,031 | non_coding_transcript_exon_variant_35 |
3 | 39,149,284 | A | G | null | non_coding_transcript_exon_variant | false | 4,306 | non_coding_transcript_exon_variant_35 |
3 | 39,149,451 | C | T | null | non_coding_transcript_exon_variant | false | 4,139 | non_coding_transcript_exon_variant_39 |
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