chrom
stringclasses 24
values | pos
int64 47.1k
248M
| id
stringlengths 1
7
| ref
stringclasses 4
values | alt
stringclasses 4
values | clin_sig
stringclasses 2
values | review_status
stringclasses 5
values | consequence
stringlengths 16
106
| CADD
float64 -12.41
2.86
| phyloP
float64 -10
20
| phastCons
float64 -1
-0
| ESM-1b
float64 -25.89
12.8
⌀ |
|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 11,248,016 | 1598761 | C | T | Benign | criteria_provided,_single_submitter | 5_prime_UTR_variant,missense_variant | -2.026294 | -3.699 | -0.998 | -5.55 |
1 | 11,248,042 | 1164362 | T | C | Benign | criteria_provided,_single_submitter | 5_prime_UTR_variant,missense_variant | -2.507278 | -5.702 | -1 | -3.773 |
1 | 11,253,859 | 959512 | T | C | Benign | criteria_provided,_single_submitter | missense_variant | -2.299746 | -7.639 | -1 | -2.964 |
1 | 11,258,571 | 1566210 | C | T | Benign | criteria_provided,_single_submitter | 5_prime_UTR_variant,missense_variant | -2.332041 | -3.758 | -1 | -4.774 |
1 | 11,259,298 | 652978 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -2.379378 | -5.817 | -1 | -4.94 |
1 | 11,259,312 | 1652243 | T | A | Benign | criteria_provided,_single_submitter | 5_prime_UTR_variant,missense_variant | -3.363499 | -1.474 | -1 | -7.247 |
1 | 11,259,349 | 969369 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -1.957149 | -3.246 | -1 | -3.427 |
1 | 11,259,385 | 1595292 | C | T | Benign | criteria_provided,_single_submitter | 5_prime_UTR_variant,missense_variant | -3.499719 | -2.03 | -0.991 | -3.738 |
1 | 11,259,388 | 1168647 | C | T | Benign | criteria_provided,_single_submitter | 5_prime_UTR_variant,missense_variant | -2.490193 | -1.399 | -0.998 | -3.962 |
1 | 11,273,755 | 291821 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -1.872552 | -2.791 | -0.877 | -7.994 |
1 | 11,273,829 | 291822 | T | G | Benign | criteria_provided,_single_submitter | missense_variant | -2.113474 | -0.308 | -0.902 | -8.6 |
1 | 11,273,836 | 856 | A | G | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.974213 | -8.647 | -1 | -12.638 |
1 | 11,273,866 | 861 | A | G | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.404256 | -6.744 | -1 | -15.7 |
1 | 11,273,886 | 858 | A | G | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.416021 | -0.137 | -0.943 | -13.469 |
1 | 11,273,983 | 291825 | A | G | Benign | criteria_provided,_single_submitter | missense_variant | 0.445741 | 0.579 | -0 | -4.952 |
1 | 11,274,042 | 862 | T | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.794753 | -7.462 | -1 | -15.075 |
1 | 11,274,055 | 859 | C | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.236509 | -7.359 | -1 | -12.816 |
1 | 11,274,060 | 857 | G | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -6.024864 | -9.323 | -1 | -11.699 |
1 | 11,285,644 | 41408 | G | A | Pathogenic | no_assertion_criteria_provided | intron_variant,missense_variant | -5.071183 | -9.564 | -1 | -15.188 |
1 | 11,285,670 | 863 | G | A | Pathogenic | no_assertion_criteria_provided | intron_variant,missense_variant | -4.328069 | -9.564 | -1 | -9.83 |
1 | 11,285,809 | 860 | A | G | Pathogenic | no_assertion_criteria_provided | intron_variant,missense_variant | -3.890578 | -8.911 | -1 | -9.473 |
1 | 11,285,822 | 864 | C | G | Pathogenic | no_assertion_criteria_provided | intron_variant,missense_variant | -3.487808 | -3.094 | -1 | -14.675 |
1 | 11,501,143 | 721203 | C | G | Benign | criteria_provided,_single_submitter | missense_variant | -0.152227 | 0.104 | -0 | -4.278 |
1 | 11,501,635 | 725514 | G | T | Benign | criteria_provided,_single_submitter | missense_variant | -1.658305 | -0.774 | -0.67 | -3.795 |
1 | 11,524,052 | 775510 | C | G | Benign | criteria_provided,_single_submitter | missense_variant | -1.641334 | -5.516 | -1 | -3.771 |
1 | 11,671,308 | 787735 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -0.113263 | -0.106 | -0 | -5.033 |
1 | 11,676,926 | 372196 | A | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.114855 | -8.872 | -1 | -13.806 |
1 | 11,711,872 | 791147 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -4.132916 | -6.79 | -1 | -4.683 |
1 | 11,790,693 | 281891 | G | A | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | 0.095333 | 0.301 | -0 | -4.965 |
1 | 11,790,719 | 534628 | G | T | Benign | criteria_provided,_single_submitter | missense_variant | -1.168617 | -1.564 | -0.96 | -3.478 |
1 | 11,790,768 | 187905 | A | G | Pathogenic | no_assertion_criteria_provided | missense_variant | -2.650884 | -5.746 | -1 | -3.385 |
1 | 11,790,843 | 187904 | G | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.672575 | -9.449 | -1 | -7.276 |
1 | 11,790,858 | 187902 | A | G | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.823106 | -8.806 | -1 | -10.833 |
1 | 11,791,216 | 3527 | C | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -2.497463 | -3.805 | -1 | -6.767 |
1 | 11,791,235 | 187899 | A | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.365803 | -8.677 | -1 | -11.811 |
1 | 11,792,304 | 187896 | C | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.908366 | -7.347 | -1 | -5.024 |
1 | 11,792,355 | 697065 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -4.165935 | -6.382 | -1 | -7.539 |
1 | 11,793,920 | 873154 | T | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.476342 | -7.565 | -1 | -9.842 |
1 | 11,793,921 | 187894 | A | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.41927 | -8.818 | -1 | -14.162 |
1 | 11,794,441 | 697100 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -3.924032 | -7.395 | -1 | -8.132 |
1 | 11,794,765 | 654511 | C | T | Pathogenic | criteria_provided,_single_submitter | missense_variant | -4.271872 | -7.395 | -1 | -9.432 |
1 | 11,794,781 | 187890 | T | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.7756 | -7.498 | -1 | -10.371 |
1 | 11,794,807 | 187889 | C | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.340288 | -7.395 | -1 | -9.773 |
1 | 11,794,826 | 1452549 | G | A | Pathogenic | criteria_provided,_single_submitter | missense_variant | -4.556518 | -7.179 | -1 | -10.011 |
1 | 11,794,835 | 187888 | G | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -2.889814 | -4.982 | -1 | -7.609 |
1 | 11,794,853 | 187887 | G | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.181427 | -9.377 | -1 | -8.305 |
1 | 11,795,114 | 3523 | A | C | Pathogenic | criteria_provided,_single_submitter | missense_variant | -5.099822 | -8.661 | -1 | -12.087 |
1 | 11,795,116 | 657146 | A | G | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.301561 | -8.661 | -0.99 | -8.305 |
1 | 11,795,161 | 3529 | A | G | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.374236 | -8.661 | -1 | -14.445 |
1 | 11,796,217 | 187884 | A | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.998947 | -8.515 | -1 | -10.103 |
1 | 11,796,222 | 187882 | C | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.456491 | -7.205 | -1 | -14.466 |
1 | 11,796,306 | 800827 | G | A | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.336504 | -5.12 | -1 | -13.755 |
1 | 11,796,313 | 187879 | T | G | Pathogenic | no_assertion_criteria_provided | missense_variant | -2.902575 | -1.305 | -1 | -6.857 |
1 | 11,796,382 | 222894 | G | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.919939 | -9.137 | -1 | -5.5 |
1 | 11,796,399 | 187877 | C | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.787481 | -7.134 | -1 | -17.46 |
1 | 11,800,275 | 1445597 | C | T | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.937483 | -7.263 | -1 | -11.775 |
1 | 11,801,166 | 3519 | C | T | Pathogenic | criteria_provided,_single_submitter | missense_variant | -4.008628 | -7.254 | -1 | -10.105 |
1 | 11,801,177 | 996033 | G | C | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.704325 | -5.009 | -1 | -11.026 |
1 | 11,801,196 | 187875 | T | G | Pathogenic | no_assertion_criteria_provided | missense_variant | -1.496506 | -0.013 | -0.753 | -12.707 |
1 | 11,801,220 | 222893 | G | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.438596 | -7.268 | -1 | -6.297 |
1 | 11,801,248 | 187874 | A | G | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.262761 | -8.575 | -1 | -17.039 |
1 | 11,801,392 | 187870 | G | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.526159 | -7.375 | -1 | -12.337 |
1 | 11,802,941 | 187868 | C | G | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.461675 | -7.357 | -1 | -8.263 |
1 | 11,802,980 | 187867 | C | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -1.874187 | -2.45 | -1 | -5.09 |
1 | 11,824,498 | 1643105 | A | G | Benign | criteria_provided,_single_submitter | missense_variant,non-coding_transcript_variant | -2.779392 | -7.784 | -1 | 4.639 |
1 | 11,847,373 | 126847 | T | G | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -0.732534 | -1.045 | -0.001 | -3.818 |
1 | 11,847,591 | 1169995 | C | T | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant,non-coding_transcript_variant | -0.130159 | 0.36 | -0.003 | -3.824 |
1 | 11,858,322 | 787694 | C | A | Benign | criteria_provided,_single_submitter | missense_variant | 0.707204 | 4.279 | -0 | -3.528 |
1 | 11,858,387 | 722224 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | 0.4281 | 1.389 | -0 | -4.397 |
1 | 11,858,760 | 710871 | C | A | Benign | criteria_provided,_single_submitter | missense_variant | 0.664745 | 2.544 | -0 | -3.465 |
1 | 11,944,569 | 811539 | C | T | Benign | criteria_provided,_single_submitter | intron_variant,missense_variant | 0.020835 | 0.494 | -0 | null |
1 | 11,949,854 | 263938 | G | A | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -3.396275 | -8.063 | -1 | -7.327 |
1 | 11,949,899 | 196247 | G | A | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -1.467364 | -1.264 | -0.368 | 2.085 |
1 | 11,950,412 | 255804 | G | T | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -2.246447 | -2.32 | -1 | -5.083 |
1 | 11,952,665 | 514191 | A | T | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -2.967838 | -4.385 | -1 | -9.871 |
1 | 11,957,902 | 440170 | A | G | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -0.497489 | -0.857 | -0.002 | -3.249 |
1 | 11,970,750 | 14372 | G | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.699072 | -9.999 | -1 | -14.408 |
1 | 11,992,584 | 2273 | G | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.129485 | -3.89 | -1 | -6.288 |
1 | 11,992,606 | 2270 | T | C | Pathogenic | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -2.661472 | -1.888 | -0.972 | -11.14 |
1 | 11,992,641 | 653992 | A | T | Pathogenic | criteria_provided,_single_submitter | missense_variant | -4.125393 | -8.947 | -1 | -13.342 |
1 | 11,992,654 | 637730 | T | C | Pathogenic | criteria_provided,_single_submitter | missense_variant | -4.35269 | -7.674 | -1 | -11.154 |
1 | 11,992,659 | 637495 | C | G | Pathogenic | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -3.817224 | -3.14 | -0.997 | -11.341 |
1 | 11,992,659 | 2276 | C | T | Pathogenic | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -3.995548 | -3.14 | -0.997 | -9.27 |
1 | 11,992,660 | 2268 | G | A | Pathogenic | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -4.496815 | -9.602 | -1 | -7.958 |
1 | 11,992,662 | 408326 | A | G | Pathogenic | criteria_provided,_single_submitter | missense_variant | -2.645832 | -1.88 | -1 | -10.343 |
1 | 11,992,664 | 476770 | G | C | Pathogenic | criteria_provided,_single_submitter | missense_variant | -2.381577 | -1.539 | -1 | -9.23 |
1 | 11,992,664 | 1455514 | G | T | Pathogenic | criteria_provided,_single_submitter | missense_variant | -2.369419 | -1.539 | -1 | -9.23 |
1 | 11,992,689 | 2281 | C | T | Pathogenic | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -4.107923 | -3.545 | -1 | -7.843 |
1 | 11,996,157 | 543234 | A | G | Pathogenic | criteria_provided,_single_submitter | missense_variant | -4.211987 | -8.947 | -1 | -12.261 |
1 | 11,996,162 | 476771 | C | G | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.462748 | -1.136 | -1 | -14.489 |
1 | 11,996,170 | 476772 | A | G | Pathogenic | criteria_provided,_single_submitter | missense_variant | -4.239352 | -8.947 | -1 | -12.007 |
1 | 11,996,226 | 1193107 | C | T | Pathogenic | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -3.70769 | -7.548 | -1 | -13.868 |
1 | 11,997,315 | 2275 | C | G | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.803475 | -7.561 | -1 | -12.096 |
1 | 11,997,315 | 439897 | C | T | Pathogenic | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -3.676341 | -7.561 | -1 | -8.543 |
1 | 11,997,316 | 217164 | A | G | Pathogenic | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -3.828631 | -8.938 | -1 | -9.849 |
1 | 11,998,787 | 2279 | C | T | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.80524 | -7.537 | -1 | -11.544 |
1 | 11,998,798 | 420142 | G | T | Pathogenic | criteria_provided,_single_submitter | missense_variant | -4.363794 | -9.561 | -1 | -15.028 |
1 | 11,998,808 | 575481 | T | C | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.392751 | -7.576 | -1 | -10.498 |
1 | 11,998,817 | 30736 | T | C | Pathogenic | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -3.713763 | -7.576 | -1 | -10.483 |
1 | 11,998,997 | 694947 | T | C | Pathogenic | criteria_provided,_single_submitter | missense_variant | -4.289712 | -7.674 | -1 | -12.571 |