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 | 7,737,474 | 770110 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -0.753576 | -0.334 | -0.225 | -2.508 |
1 | 7,737,485 | 730882 | G | C | Benign | criteria_provided,_single_submitter | missense_variant | 0.707431 | 0.827 | -0.021 | -4.117 |
1 | 7,737,559 | 737821 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -2.093904 | -2.844 | -0.998 | -4.781 |
1 | 7,737,565 | 714195 | A | C | Benign | criteria_provided,_single_submitter | missense_variant | -1.75721 | -1.889 | -0.214 | 0.922 |
1 | 7,738,363 | 1694487 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -1.749975 | -4.63 | -1 | -3.049 |
1 | 7,809,893 | 242410 | C | G | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.304972 | -6.937 | -1 | -9.54 |
1 | 7,809,900 | 242411 | A | G | Pathogenic | criteria_provided,_single_submitter | missense_variant | -1.301849 | -2.883 | -0.797 | -8.991 |
1 | 7,809,908 | 783921 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -0.747934 | -2.236 | -0.159 | -5.605 |
1 | 7,827,174 | 780748 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -2.131907 | -0.686 | -0.998 | -8.337 |
1 | 7,827,202 | 779061 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -1.143329 | -0.661 | -0.001 | -5.066 |
1 | 7,827,439 | 741381 | T | G | Benign | criteria_provided,_single_submitter | missense_variant | -1.064124 | 0.289 | -0 | -6.237 |
1 | 7,842,676 | 789550 | G | C | Benign | criteria_provided,_single_submitter | missense_variant | -3.079947 | -2.347 | -0.996 | -1.392 |
1 | 7,852,915 | 709174 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -1.748651 | -1.949 | -0.326 | -5.07 |
1 | 7,935,030 | 775499 | G | T | Benign | criteria_provided,_single_submitter | missense_variant | -0.790721 | -0.109 | -0 | -4.756 |
1 | 7,962,863 | 7065 | G | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.612452 | -8.662 | -1 | -4.722 |
1 | 7,965,348 | 7069 | G | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -1.157192 | -0.331 | -0.993 | -4.097 |
1 | 7,965,425 | 7067 | G | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -5.348112 | -8.135 | -1 | -4.387 |
1 | 7,970,963 | 1334459 | G | A | Pathogenic | criteria_provided,_single_submitter | missense_variant | -6.259964 | -8.373 | -1 | -2.101 |
1 | 7,984,981 | 7064 | T | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.780596 | -7.969 | -0.999 | -14.558 |
1 | 8,013,883 | 710834 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -1.390562 | -0.402 | -0.077 | -3.924 |
1 | 8,014,127 | 791774 | T | G | Benign | criteria_provided,_single_submitter | missense_variant | -0.932991 | -0.175 | -0.023 | -2.628 |
1 | 8,335,500 | 1333148 | G | T | Benign | criteria_provided,_single_submitter | missense_variant | 1.282361 | 0.293 | -0 | null |
1 | 8,355,558 | 783922 | G | T | Benign | criteria_provided,_single_submitter | missense_variant | -3.241546 | -8.066 | -1 | -7.06 |
1 | 8,356,159 | 1686125 | G | A | Pathogenic | criteria_provided,_single_submitter | missense_variant | -4.390177 | -10.003 | -1 | -12.877 |
1 | 8,358,216 | 562007 | T | C | Pathogenic | criteria_provided,_single_submitter | missense_variant | -4.043275 | -7.995 | -1 | -15.728 |
1 | 8,358,232 | 562005 | G | A | Pathogenic | criteria_provided,_single_submitter | missense_variant | -4.045052 | -9.974 | -1 | -15.636 |
1 | 8,358,235 | 562004 | A | G | Pathogenic | criteria_provided,_single_submitter | missense_variant | -4.329644 | -9.299 | -1 | -11.261 |
1 | 8,358,238 | 1686749 | G | A | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.400203 | -9.974 | -1 | -14.39 |
1 | 8,358,264 | 1254418 | G | A | Pathogenic | criteria_provided,_single_submitter | missense_variant | -4.255148 | -9.974 | -1 | -15.845 |
1 | 8,358,481 | 1599420 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -3.892785 | -5.938 | -1 | -7.904 |
1 | 8,359,916 | 236216 | C | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.225111 | -6.239 | -1 | -11.752 |
1 | 8,360,419 | 712884 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -1.264338 | -3.367 | -1 | -3.896 |
1 | 8,360,443 | 445630 | G | C | Benign | criteria_provided,_single_submitter | missense_variant | -1.273483 | -1.665 | -0.996 | -4.75 |
1 | 8,360,503 | 1694488 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -2.453474 | -5.281 | -1 | -4.168 |
1 | 8,360,646 | 976254 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -3.052532 | -6.002 | -1 | -4.719 |
1 | 8,365,860 | 1644785 | C | T | Benign | criteria_provided,_single_submitter | 5_prime_UTR_variant,missense_variant | -3.377683 | -6.17 | -1 | -1.847 |
1 | 8,422,737 | 711834 | T | C | Benign | criteria_provided,_single_submitter | 5_prime_UTR_variant,missense_variant | -1.754288 | -2.263 | -1 | -2.919 |
1 | 8,556,503 | 1552098 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -2.180555 | -5.847 | -1 | -5.649 |
1 | 8,656,243 | 1627301 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -3.763365 | -2.153 | -1 | -11.207 |
1 | 9,013,532 | 775501 | A | T | Benign | criteria_provided,_single_submitter | missense_variant | -2.82819 | -1.912 | -0.002 | -13.433 |
1 | 9,023,035 | 780761 | G | T | Benign | criteria_provided,_single_submitter | missense_variant | -1.349732 | -0.975 | -0 | -1.751 |
1 | 9,047,700 | 771300 | T | C | Benign | criteria_provided,_single_submitter | intron_variant,missense_variant | -2.612355 | -2.321 | -1 | -5.124 |
1 | 9,245,334 | 735495 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -1.604314 | 0.406 | -0.001 | -8.467 |
1 | 9,245,386 | 1601522 | A | C | Benign | criteria_provided,_single_submitter | missense_variant | -3.875482 | -5.787 | -1 | -3.545 |
1 | 9,247,017 | 777320 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | 0.518618 | -0.759 | -0.116 | -2.458 |
1 | 9,263,569 | 31585 | G | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.126554 | -9.479 | -1 | -12.704 |
1 | 9,263,826 | 1558499 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -2.972349 | -6.316 | -1 | -2.334 |
1 | 9,263,835 | 1584487 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -1.331599 | -1.687 | -0.953 | -3.068 |
1 | 9,263,851 | 16131 | G | A | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -0.336897 | 0.083 | -0.001 | -4.056 |
1 | 9,263,943 | 784929 | A | G | Benign | criteria_provided,_single_submitter | missense_variant | -1.160752 | -2.082 | -0.997 | -3.837 |
1 | 9,264,154 | 1600034 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -1.484083 | -1.833 | -0.893 | -2.144 |
1 | 9,264,279 | 787734 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -2.075197 | -0.1 | -0.004 | -3.257 |
1 | 9,264,760 | 759949 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -0.769429 | -1.393 | -0.04 | -4.917 |
1 | 9,595,907 | 775503 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -1.412711 | -0.753 | -0.092 | -6.342 |
1 | 9,610,680 | 785929 | C | A | Benign | criteria_provided,_single_submitter | missense_variant | -1.921681 | -3.328 | -0.038 | -5.634 |
1 | 9,612,988 | 775507 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -2.836878 | -2.548 | -0.981 | -3.77 |
1 | 9,717,064 | 474036 | G | A | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -1.576054 | -0.851 | -0.993 | -3.881 |
1 | 9,717,541 | 440066 | C | G | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -2.424236 | -2.093 | -0.876 | -5.06 |
1 | 9,717,608 | 132806 | C | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -1.726918 | 0.927 | -0.02 | -7.919 |
1 | 9,719,924 | 132808 | T | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.546995 | -5.057 | -1 | -9.481 |
1 | 9,720,138 | 474023 | A | G | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -0.168261 | -1.021 | -0.919 | -3.881 |
1 | 9,720,166 | 709503 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -2.297372 | -3.944 | -0.999 | -4.61 |
1 | 9,720,790 | 1406866 | T | A | Pathogenic | criteria_provided,_single_submitter | missense_variant | -2.80162 | -6.185 | -1 | -9.233 |
1 | 9,720,791 | 1457684 | A | C | Pathogenic | criteria_provided,_single_submitter | missense_variant | -2.540089 | -3.29 | -0.997 | -7.266 |
1 | 9,726,972 | 88675 | G | A | Pathogenic | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -4.399379 | -10.003 | -1 | -12.303 |
1 | 9,773,277 | 791146 | A | T | Benign | criteria_provided,_single_submitter | missense_variant | -1.440902 | -3.52 | -1 | -5.469 |
1 | 9,972,074 | 978252 | A | G | Pathogenic | no_assertion_criteria_provided | initiatior_codon_variant,missense_variant | -2.809258 | -6.644 | -1 | null |
1 | 9,972,096 | 798231 | A | C | Benign | criteria_provided,_single_submitter | missense_variant | -2.653074 | -6.856 | -1 | -8.653 |
1 | 9,972,098 | 37140 | G | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.389461 | -4.446 | -1 | -10.946 |
1 | 9,975,672 | 982555 | C | T | Pathogenic | criteria_provided,_single_submitter | missense_variant | -4.186524 | -6.138 | -1 | -16.816 |
1 | 9,975,681 | 972092 | A | G | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.664805 | -9.317 | -1 | -11.055 |
1 | 9,975,721 | 1062688 | T | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.93411 | -6.256 | -1 | -8.385 |
1 | 9,982,312 | 37136 | G | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -2.935683 | -0.227 | -0.989 | -9.228 |
1 | 9,982,318 | 37139 | C | G | Pathogenic | no_assertion_criteria_provided | missense_variant | -2.024344 | 0.164 | -0.546 | -10.286 |
1 | 9,982,361 | 1062684 | A | G | Pathogenic | criteria_provided,_single_submitter | missense_variant | -1.910285 | -3.693 | -1 | -6.944 |
1 | 9,982,480 | 37133 | C | T | Pathogenic | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -2.859381 | -4.057 | -0.998 | -9.24 |
1 | 9,982,490 | 813197 | T | C | Pathogenic | criteria_provided,_single_submitter | missense_variant | -4.045274 | -7.776 | -1 | -11.319 |
1 | 9,982,570 | 845745 | C | T | Pathogenic | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -4.062557 | -2.129 | -0.952 | -8.294 |
1 | 9,982,571 | 37138 | G | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.965963 | -6.277 | -1 | -8.268 |
1 | 9,982,577 | 464670 | T | C | Pathogenic | criteria_provided,_single_submitter | missense_variant | -4.245936 | -7.433 | -1 | -10.206 |
1 | 9,982,630 | 37134 | G | A | Pathogenic | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -2.486833 | -4.289 | -1 | -3.308 |
1 | 9,982,678 | 37135 | A | G | Pathogenic | no_assertion_criteria_provided | missense_variant | -2.684277 | -1.003 | -0.849 | -3.432 |
1 | 10,135,127 | 778206 | A | G | Benign | criteria_provided,_single_submitter | missense_variant | -0.339919 | -0.593 | -0.001 | -2.01 |
1 | 10,258,602 | 4658 | A | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.021904 | -9.239 | -1 | -15.978 |
1 | 10,297,018 | 917102 | T | A | Benign | criteria_provided,_single_submitter | missense_variant | -3.637699 | -2.269 | -1 | -10.5 |
1 | 10,303,606 | 218862 | G | T | Benign | criteria_provided,_multiple_submitters,_no_conflicts | intron_variant,missense_variant | -1.965935 | -2.475 | -1 | -2.917 |
1 | 10,321,829 | 240957 | A | G | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -2.966708 | -5.04 | -1 | -12.642 |
1 | 10,337,509 | 291567 | A | G | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -4.255726 | -9.325 | -1 | -10.634 |
1 | 10,368,512 | 240959 | G | A | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -2.195298 | -3.399 | -1 | -4.688 |
1 | 10,461,512 | 786715 | C | T | Benign | criteria_provided,_single_submitter | 3_prime_UTR_variant,missense_variant | -1.791569 | -2.316 | -0.996 | -5.444 |
1 | 10,463,076 | 791778 | T | A | Benign | criteria_provided,_single_submitter | missense_variant | -2.15488 | 0.919 | -0.123 | -4.574 |
1 | 10,463,569 | 777880 | A | G | Benign | criteria_provided,_single_submitter | missense_variant | -0.488415 | -0.656 | -0.023 | -0.265 |
1 | 10,599,276 | 291672 | T | G | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -3.357087 | -7.096 | -1 | -7.29 |
1 | 10,623,109 | 291677 | G | A | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -2.484015 | -4.105 | -1 | -8.435 |
1 | 10,629,812 | 259439 | G | A | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -2.024927 | -3.35 | -1 | -2.312 |
1 | 10,639,009 | 1294667 | G | C | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -2.322416 | -0.182 | -0.039 | -4.562 |
1 | 10,639,987 | 1599392 | A | C | Benign | criteria_provided,_single_submitter | missense_variant | -4.185007 | -5.977 | -1 | -11.621 |
1 | 10,649,412 | 1599237 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -1.936252 | -3.586 | -1 | -6.762 |
1 | 10,653,593 | 717999 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -1.275163 | -0.453 | -0.997 | -2.777 |
1 | 10,660,197 | 709353 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -2.406697 | -4.139 | -0.976 | -4.601 |