chrom
stringclasses 24
values | pos
int64 47.1k
249M
| id
stringlengths 1
7
| ref
stringclasses 4
values | alt
stringclasses 4
values | clin_sig
stringclasses 2
values | review_status
stringclasses 5
values | consequence
stringlengths 8
106
| CADD
float64 -17.55
2.86
| phyloP
float64 -10
20
⌀ | phastCons
float64 -1
-0
⌀ |
|---|---|---|---|---|---|---|---|---|---|---|
X | 154,902,099 | 1685783 | C | T | Pathogenic | criteria_provided,_single_submitter | missense_variant | -2.739094 | -3.103 | -0.993 |
X | 154,902,120 | 10304 | G | A | Pathogenic | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -3.970519 | -1.399 | -1 |
X | 154,902,150 | 10303 | C | A | Pathogenic | no_assertion_criteria_provided | nonsense | -8.850256 | -6.635 | -1 |
X | 154,902,167 | 811156 | C | A | Pathogenic | criteria_provided,_single_submitter | missense_variant | -5.317157 | -6.565 | -1 |
X | 154,902,169 | 1330709 | T | G | Pathogenic | criteria_provided,_single_submitter | splice_acceptor_variant | -4.787932 | -6.655 | -1 |
X | 154,902,178 | 1685784 | C | T | Pathogenic | criteria_provided,_single_submitter | intron_variant | -0.330841 | 0.432 | -0 |
X | 154,903,815 | 1251259 | A | T | Benign | criteria_provided,_single_submitter | intron_variant | 0.232135 | 0.384 | -0 |
X | 154,903,928 | 1685785 | C | T | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.435462 | -4.466 | -1 |
X | 154,903,950 | 618098 | C | T | Pathogenic | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -3.50535 | -2.864 | -0.808 |
X | 154,903,951 | 10300 | G | A | Pathogenic | criteria_provided,_single_submitter | nonsense | -6.305191 | -2.076 | -0.808 |
X | 154,903,966 | 10299 | G | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.428075 | -3.84 | -1 |
X | 154,903,968 | 10298 | C | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.882169 | -7.305 | -1 |
X | 154,903,986 | 627340 | T | A | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.843791 | -5.555 | -1 |
X | 154,904,004 | 10297 | C | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.686779 | -7.484 | -1 |
X | 154,904,021 | 1703846 | C | T | Pathogenic | criteria_provided,_single_submitter | nonsense | -7.330828 | -7.484 | -1 |
X | 154,904,022 | 10296 | C | T | Pathogenic | no_assertion_criteria_provided | nonsense | -7.121117 | -5.743 | -1 |
X | 154,904,025 | 10295 | C | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.658328 | -5.776 | -1 |
X | 154,904,026 | 10118 | G | A | Pathogenic | no_assertion_criteria_provided | nonsense | -6.84691 | -2.752 | -0.999 |
X | 154,904,049 | 1698782 | A | T | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.461402 | -3.179 | -0.88 |
X | 154,904,082 | 10294 | T | C | Pathogenic | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -3.394692 | -7.589 | -1 |
X | 154,904,083 | 10140 | T | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.570577 | -7.589 | -1 |
X | 154,904,305 | 1685786 | G | A | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.075272 | -1.146 | -0.232 |
X | 154,904,401 | 10292 | C | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.883444 | -7.497 | -1 |
X | 154,904,408 | 1685787 | G | T | Pathogenic | criteria_provided,_single_submitter | synonymous_variant | -0.581216 | -1.366 | -1 |
X | 154,904,434 | 10291 | G | A | Pathogenic | no_assertion_criteria_provided | nonsense | -7.298377 | -5.063 | -1 |
X | 154,904,493 | 10289 | G | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.838536 | -9.508 | -1 |
X | 154,904,506 | 618640 | C | T | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.728526 | -7.497 | -1 |
X | 154,904,511 | 10288 | T | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.472631 | -7.602 | -1 |
X | 154,904,518 | 10287 | C | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.721686 | -7.497 | -1 |
X | 154,904,518 | 10286 | C | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.741959 | -7.497 | -1 |
X | 154,904,526 | 973797 | T | C | Pathogenic | no_assertion_criteria_provided | splice_acceptor_variant | -5.61889 | -7.525 | -1 |
X | 154,904,811 | 10285 | C | T | Pathogenic | no_assertion_criteria_provided | synonymous_variant | -2.847422 | -2.75 | -1 |
X | 154,904,839 | 10284 | G | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.917619 | -7.669 | -1 |
X | 154,904,864 | 10282 | T | G | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.140755 | -0.947 | -0.985 |
X | 154,904,871 | 10280 | C | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.364945 | -2.529 | -1 |
X | 154,904,904 | 811809 | G | C | Benign | criteria_provided,_single_submitter | synonymous_variant | -0.208177 | -0.005 | -0.005 |
X | 154,904,918 | 10283 | T | A | Pathogenic | no_assertion_criteria_provided | nonsense | -5.702655 | -0.988 | -0.981 |
X | 154,904,948 | 1330820 | G | A | Pathogenic | criteria_provided,_single_submitter | nonsense | -5.842136 | -0.783 | -0.075 |
X | 154,904,954 | 10279 | G | A | Pathogenic | no_assertion_criteria_provided | nonsense | -6.1499 | -1.474 | -0.088 |
X | 154,904,989 | 10277 | G | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.758608 | -7.48 | -1 |
X | 154,904,998 | 10274 | C | T | Pathogenic | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -4.733664 | -7.459 | -1 |
X | 154,904,999 | 10275 | G | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.575471 | -2.694 | -1 |
X | 154,904,999 | 10276 | G | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.791978 | -2.694 | -1 |
X | 154,905,016 | 1685788 | A | T | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.926377 | -8.813 | -1 |
X | 154,906,421 | 10148 | A | G | Pathogenic | no_assertion_criteria_provided | missense_variant | -1.514255 | -1.074 | -0.994 |
X | 154,906,457 | 10273 | C | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.697889 | -7.497 | -1 |
X | 154,906,458 | 1330579 | C | T | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.847057 | -7.497 | -1 |
X | 154,906,468 | 10272 | C | G | Pathogenic | no_assertion_criteria_provided | missense_variant | -2.866952 | -0.672 | -0.999 |
X | 154,906,470 | 10271 | A | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -2.930706 | -1.033 | -1 |
X | 154,906,488 | 10270 | C | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.879808 | -3.832 | -0.999 |
X | 154,906,492 | 811964 | G | T | Pathogenic | criteria_provided,_single_submitter | nonsense | -5.770972 | -0.067 | -0.008 |
X | 154,906,502 | 1685789 | T | C | Pathogenic | criteria_provided,_single_submitter | missense_variant | -2.093224 | -0.959 | -0.696 |
X | 154,906,575 | 10269 | T | C | Pathogenic | no_assertion_criteria_provided | splice_acceptor_variant | -5.522277 | -4.18 | -1 |
X | 154,928,570 | 993734 | C | T | Pathogenic | criteria_provided,_single_submitter | splice_donor_variant | -3.984401 | -4.031 | -1 |
X | 154,928,604 | 439677 | C | T | Pathogenic | criteria_provided,_single_submitter | missense_variant | -2.411716 | -2.724 | -0.982 |
X | 154,928,607 | 10116 | T | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.382289 | -2.746 | -1 |
X | 154,928,623 | 10146 | C | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.643751 | -4.191 | -1 |
X | 154,928,646 | 1685790 | C | T | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.272942 | -2.724 | -0.997 |
X | 154,928,647 | 10267 | G | A | Pathogenic | criteria_provided,_single_submitter | nonsense | -6.812039 | -3.739 | -1 |
X | 154,928,647 | 10268 | G | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.561186 | -3.739 | -1 |
X | 154,928,668 | 10114 | G | A | Pathogenic | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -4.082201 | -5.331 | -1 |
X | 154,928,677 | 10112 | G | A | Pathogenic | no_assertion_criteria_provided | nonsense | -6.00971 | -2.783 | -0.803 |
X | 154,928,694 | 10115 | T | A | Pathogenic | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -3.379518 | -4.245 | -1 |
X | 154,928,890 | 10265 | C | A | Pathogenic | no_assertion_criteria_provided | nonsense | -4.292587 | -0.343 | -0.001 |
X | 154,928,920 | 811363 | C | A | Pathogenic | criteria_provided,_single_submitter | nonsense | -5.115998 | -1.226 | -0.295 |
X | 154,928,962 | 1685791 | C | A | Pathogenic | criteria_provided,_single_submitter | missense_variant | 0.660344 | 0.632 | -0 |
X | 154,929,032 | 1330919 | C | T | Pathogenic | criteria_provided,_single_submitter | nonsense | -4.67819 | -0.413 | -0 |
X | 154,929,154 | 994074 | G | A | Pathogenic | criteria_provided,_single_submitter | nonsense | -4.802362 | -2.193 | -0.739 |
X | 154,929,259 | 1685793 | C | T | Pathogenic | criteria_provided,_single_submitter | missense_variant | -0.887399 | -1.164 | -0.82 |
X | 154,929,290 | 255223 | C | T | Benign | criteria_provided,_multiple_submitters,_no_conflicts | synonymous_variant | -0.091528 | -0.256 | -0.005 |
X | 154,929,317 | 449368 | G | T | Pathogenic | criteria_provided,_single_submitter | nonsense | -4.540958 | -0.09 | -0.008 |
X | 154,929,323 | 914834 | G | C | Benign | criteria_provided,_single_submitter | synonymous_variant | 0.19124 | -0.693 | -0.001 |
X | 154,929,691 | 1685794 | T | A | Pathogenic | criteria_provided,_single_submitter | missense_variant | -0.772337 | -0.634 | -0.001 |
X | 154,929,718 | 1704288 | G | A | Pathogenic | criteria_provided,_single_submitter | nonsense | -5.211915 | -3.009 | -0.855 |
X | 154,929,748 | 618114 | T | A | Pathogenic | criteria_provided,_single_submitter | nonsense | -4.914761 | -1.201 | -0.03 |
X | 154,929,804 | 1685795 | C | T | Pathogenic | criteria_provided,_single_submitter | missense_variant | -0.220745 | 0.655 | -0 |
X | 154,929,926 | 41000 | T | G | Benign | criteria_provided,_multiple_submitters,_no_conflicts | synonymous_variant | -0.203249 | -0.915 | -0.469 |
X | 154,929,954 | 1685796 | C | T | Pathogenic | criteria_provided,_single_submitter | missense_variant | -0.32078 | 0.078 | -0 |
X | 154,930,010 | 40999 | G | C | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | 0.753331 | 0.4 | -0 |
X | 154,930,089 | 1285022 | T | A | Pathogenic | criteria_provided,_single_submitter | missense_variant | -0.744311 | -1.532 | -0.004 |
X | 154,930,169 | 439685 | G | A | Benign | criteria_provided,_multiple_submitters,_no_conflicts | synonymous_variant | -0.085269 | -0.298 | -0.035 |
X | 154,930,524 | 1098532 | G | T | Pathogenic | criteria_provided,_single_submitter | nonsense | -4.439185 | -0.585 | -0.003 |
X | 154,930,554 | 912879 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | 0.316936 | 0.317 | -0 |
X | 154,930,888 | 1330777 | C | A | Pathogenic | criteria_provided,_single_submitter | nonsense | -4.102026 | -0.114 | -0.022 |
X | 154,930,950 | 1685797 | G | C | Pathogenic | criteria_provided,_single_submitter | missense_variant | 0.112642 | -0.021 | -0 |
X | 154,930,987 | 1163209 | G | A | Pathogenic | criteria_provided,_single_submitter | nonsense | -3.774642 | -1.091 | -0.013 |
X | 154,931,337 | 618115 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -2.335227 | -1.642 | -0.997 |
X | 154,931,350 | 993607 | G | A | Pathogenic | criteria_provided,_single_submitter | nonsense | -4.068301 | -0.804 | -0.036 |
X | 154,931,407 | 10248 | T | A | Pathogenic | no_assertion_criteria_provided | nonsense | -3.894414 | -0.689 | -0.024 |
X | 154,931,575 | 10247 | C | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -0.91467 | -2.707 | -0.161 |
X | 154,931,623 | 10246 | C | T | Pathogenic | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -3.469478 | -4.191 | -1 |
X | 154,931,627 | 1699285 | C | A | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.266174 | -4.191 | -1 |
X | 154,931,628 | 1330871 | A | G | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.340454 | -4.97 | -1 |
X | 154,931,640 | 1677257 | C | A | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.721417 | -4.191 | -1 |
X | 154,931,640 | 810977 | C | T | Pathogenic | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -3.318549 | -4.191 | -1 |
X | 154,931,776 | 1685056 | T | C | Benign | criteria_provided,_single_submitter | intron_variant | -0.268669 | -0.467 | -0 |
X | 154,947,763 | 1330638 | T | C | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.371636 | -2.099 | -1 |
X | 154,947,767 | 592086 | C | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.452895 | -3.07 | -1 |
X | 154,947,768 | 627033 | C | G | Pathogenic | criteria_provided,_single_submitter | missense_variant | -2.293749 | -0.93 | -1 |
X | 154,947,782 | 10244 | A | G | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.87294 | -6.028 | -1 |
Subsets and Splits