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 | 930,165 | 1164676 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -4.225333 | -5.113 | -1 | -8.967 |
1 | 930,204 | 1170208 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -2.879554 | -3.43 | -1 | -5.529 |
1 | 930,285 | 1165489 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -0.091394 | -0.322 | -0.107 | -4.687 |
1 | 930,314 | 1170010 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -2.481464 | -3.747 | -0.081 | -4.295 |
1 | 935,779 | 1167937 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -1.831757 | -2.981 | -1 | -2.864 |
1 | 939,429 | 1167351 | G | C | Benign | criteria_provided,_single_submitter | intron_variant,missense_variant | -0.313022 | 0.492 | -0 | -1.728 |
1 | 942,451 | 1166513 | T | C | Benign | criteria_provided,_single_submitter | missense_variant | -1.997533 | -1.367 | -0.656 | 8.487 |
1 | 942,930 | 1169836 | T | C | Benign | criteria_provided,_single_submitter | missense_variant | -0.46896 | 0.204 | -0 | -1.218 |
1 | 942,945 | 1170437 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -0.523057 | 0.755 | -0 | -4.383 |
1 | 942,951 | 1170505 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -0.69239 | 0.13 | -0 | -4.413 |
1 | 944,001 | 1164573 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -1.909588 | -0.814 | -0.002 | -7.529 |
1 | 944,004 | 1164106 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -0.009384 | 0.304 | -0 | -4.172 |
1 | 944,029 | 1168053 | C | G | Benign | criteria_provided,_single_submitter | missense_variant | -2.31958 | -1.335 | -0.001 | -3.925 |
1 | 944,101 | 780745 | G | C | Benign | criteria_provided,_single_submitter | missense_variant | -2.087584 | -2.811 | -1 | -6.228 |
1 | 966,542 | 782833 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -2.509645 | -0.169 | -0.004 | -10.15 |
1 | 966,543 | 782834 | C | A | Benign | criteria_provided,_single_submitter | missense_variant | -3.16139 | 0.285 | -0 | -9.608 |
1 | 972,895 | 770481 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -0.504602 | -1.814 | -0.061 | -3.092 |
1 | 973,842 | 791106 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -1.832995 | -2.734 | -0.063 | -4.53 |
1 | 1,014,042 | 475283 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | 0.443816 | 0.676 | -0 | -5.595 |
1 | 1,014,228 | 402986 | G | A | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -0.027262 | 0.396 | -0 | -4.136 |
1 | 1,020,183 | 387476 | G | C | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -0.812271 | 1.405 | -0 | -3.27 |
1 | 1,022,313 | 243037 | A | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.210583 | -5.733 | -1 | -3.284 |
1 | 1,041,583 | 128291 | A | G | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | 1.129235 | 1.898 | -0 | -2.423 |
1 | 1,044,368 | 128294 | A | T | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -4.190468 | -5.452 | -1 | -6.692 |
1 | 1,045,751 | 263173 | A | G | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | 0.143737 | 0.151 | -0 | -2.091 |
1 | 1,047,342 | 128299 | A | G | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -3.744859 | -2.004 | -1 | -7.347 |
1 | 1,048,126 | 128304 | C | T | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | 0.616387 | 2.607 | -0 | -4.836 |
1 | 1,048,900 | 703974 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -0.043271 | -0.272 | -0.519 | -3.147 |
1 | 1,050,446 | 128312 | G | A | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -1.744586 | -0.812 | -0.947 | -6.132 |
1 | 1,050,449 | 1284257 | G | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.882619 | -5.271 | -1 | -7.674 |
1 | 1,050,575 | 18241 | G | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.095325 | -9.276 | -1 | -13.196 |
1 | 1,050,763 | 126555 | G | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.767892 | -3.928 | -1 | -11.977 |
1 | 1,213,738 | 96692 | G | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -1.622702 | 0.097 | -0 | -9.152 |
1 | 1,214,100 | 474794 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -1.398429 | 0.34 | -0 | -4.77 |
1 | 1,232,279 | 60484 | A | G | Pathogenic | criteria_provided,_multiple_submitters,_no_conflicts | initiatior_codon_variant,missense_variant | -2.298613 | -2.027 | -0.925 | null |
1 | 1,232,280 | 1452181 | T | C | Pathogenic | criteria_provided,_single_submitter | initiatior_codon_variant,missense_variant | -2.745302 | -1.175 | -0.99 | null |
1 | 1,232,294 | 60493 | C | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.156854 | -2.011 | -0.011 | -6.582 |
1 | 1,232,387 | 800256 | G | A | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -0.606681 | 1.233 | -0 | -3.335 |
1 | 1,232,471 | 60488 | A | G | Pathogenic | no_assertion_criteria_provided | missense_variant | -2.945049 | -2.086 | -0.997 | -11.587 |
1 | 1,232,478 | 60489 | C | T | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.931606 | -2.033 | -0.993 | -9.659 |
1 | 1,232,735 | 390636 | C | A | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -3.915694 | -2.68 | -1 | -11.996 |
1 | 1,232,744 | 60486 | G | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.68026 | -7.4 | -1 | -10.741 |
1 | 1,232,754 | 869983 | C | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.121125 | -4.766 | -1 | -15.88 |
1 | 1,232,800 | 281204 | G | C | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -0.830179 | -0.466 | -0.998 | -2.994 |
1 | 1,232,834 | 522415 | T | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.516843 | -3.777 | -1 | -6.756 |
1 | 1,232,896 | 869985 | C | G | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.667146 | 0.325 | -0.335 | -14.467 |
1 | 1,232,897 | 60495 | G | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.542989 | -6.691 | -1 | -10.692 |
1 | 1,232,927 | 60496 | G | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.493109 | -6.663 | -1 | -13.48 |
1 | 1,233,044 | 996067 | C | T | Pathogenic | criteria_provided,_single_submitter | missense_variant | -4.400743 | -2.068 | -1 | -12.325 |
1 | 1,233,177 | 60487 | G | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.25814 | -5.541 | -1 | -13.798 |
1 | 1,233,203 | 60491 | T | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.938952 | -5.873 | -1 | -9.292 |
1 | 1,242,601 | 789547 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -0.625257 | 0.6 | -0 | -4.845 |
1 | 1,242,864 | 772646 | G | C | Benign | criteria_provided,_single_submitter | missense_variant | 0.148836 | -0.36 | -0 | 0.345 |
1 | 1,332,630 | 775486 | G | T | Benign | criteria_provided,_single_submitter | missense_variant | -3.222589 | -1.914 | -0.937 | -5.17 |
1 | 1,334,108 | 1222088 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -0.004351 | -0.198 | -0 | -6.573 |
1 | 1,336,269 | 1600778 | A | G | Benign | criteria_provided,_single_submitter | missense_variant | -0.170895 | -0.321 | -0.459 | -2.601 |
1 | 1,336,404 | 1535754 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -1.085777 | -0.985 | -0.014 | -3.064 |
1 | 1,336,428 | 722475 | C | A | Benign | criteria_provided,_single_submitter | missense_variant | -3.522542 | -6.589 | -1 | -8.601 |
1 | 1,336,467 | 1166885 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -2.948811 | -1.555 | -0.882 | -7.468 |
1 | 1,340,312 | 1599156 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -3.946704 | -9.832 | -1 | -13.608 |
1 | 1,340,424 | 599454 | G | C | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -2.798378 | -2.056 | -0.454 | -5.409 |
1 | 1,341,749 | 1611353 | G | C | Benign | criteria_provided,_single_submitter | missense_variant | -1.244569 | -1.429 | -0.979 | -2.602 |
1 | 1,341,803 | 1169213 | C | T | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -0.188021 | -0.139 | -0.014 | -4.991 |
1 | 1,437,393 | 781924 | C | T | Benign | criteria_provided,_single_submitter | missense_variant,synonymous_variant | 0.482969 | 6.112 | -0 | -4.539 |
1 | 1,439,425 | 1229112 | G | C | Benign | criteria_provided,_single_submitter | 3_prime_UTR_variant,missense_variant | 0.426661 | 2.109 | -0 | -2.55 |
1 | 1,454,394 | 1253304 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -2.71155 | -5.155 | -1 | -6.919 |
1 | 1,477,279 | 780746 | G | T | Benign | criteria_provided,_single_submitter | missense_variant | -3.226881 | -7.939 | -1 | -4.851 |
1 | 1,495,783 | 786444 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | 0.714693 | 0.107 | -0 | -4.288 |
1 | 1,495,785 | 767642 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -0.047896 | 0.81 | -0 | -3.32 |
1 | 1,512,287 | 1675332 | A | G | Benign | criteria_provided,_single_submitter | missense_variant | -1.664855 | -0.859 | -0.738 | -4.941 |
1 | 1,516,036 | 828051 | T | G | Pathogenic | no_assertion_criteria_provided | 5_prime_UTR_variant,missense_variant | -3.368562 | -6.341 | -0.992 | -3.651 |
1 | 1,523,535 | 791764 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -1.60955 | -2.402 | -1 | -8.344 |
1 | 1,525,242 | 637018 | T | G | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.512934 | -6.29 | -1 | -16.213 |
1 | 1,527,718 | 1685550 | A | G | Pathogenic | criteria_provided,_single_submitter | missense_variant | -2.774607 | -5.907 | -1 | -9.9 |
1 | 1,527,777 | 791767 | G | C | Benign | criteria_provided,_single_submitter | missense_variant | -1.125781 | -3.741 | -0.628 | -10.657 |
1 | 1,535,370 | 161196 | G | A | Pathogenic | criteria_provided,_single_submitter | missense_variant | -4.262362 | -1.591 | -0.966 | -5.859 |
1 | 1,535,427 | 1235425 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -0.095812 | -0.301 | -0.004 | -3.649 |
1 | 1,535,616 | 161194 | G | A | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.118985 | -2.772 | -1 | -4.685 |
1 | 1,535,619 | 523023 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -3.489369 | -2.753 | -0.989 | -5.215 |
1 | 1,535,723 | 161195 | G | A | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.741044 | -5.617 | -1 | -4.354 |
1 | 1,626,711 | 780208 | G | A | Benign | criteria_provided,_single_submitter | missense_variant,non-coding_transcript_variant | -1.337381 | -1.936 | -0.862 | -10.223 |
1 | 1,757,140 | 791769 | C | A | Benign | criteria_provided,_single_submitter | intron_variant,missense_variant | -0.470473 | -0.634 | -0.001 | -4.774 |
1 | 1,759,182 | 716793 | G | A | Benign | criteria_provided,_single_submitter | intron_variant,missense_variant | -1.049697 | -0.053 | -0.002 | -3.677 |
1 | 1,759,828 | 716794 | G | A | Benign | criteria_provided,_single_submitter | intron_variant,missense_variant | 0.046505 | -0.008 | -0 | -4.718 |
1 | 1,789,242 | 995963 | T | C | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.893146 | -7.889 | -1 | -15.005 |
1 | 1,790,444 | 1551623 | A | G | Benign | criteria_provided,_single_submitter | missense_variant | -2.533852 | -9.101 | -1 | -4.293 |
1 | 1,790,578 | 1610568 | C | G | Benign | criteria_provided,_single_submitter | missense_variant | -3.084199 | -1.134 | -1 | -6.134 |
1 | 1,793,270 | 1594453 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -2.061848 | -3.345 | -0.996 | -4.001 |
1 | 1,804,496 | 521213 | T | C | Pathogenic | criteria_provided,_single_submitter | missense_variant | -4.523403 | -7.839 | -1 | -15.496 |
1 | 1,804,497 | 812755 | C | A | Pathogenic | criteria_provided,_single_submitter | missense_variant | -4.21045 | -7.729 | -1 | -15.91 |
1 | 1,804,502 | 1194565 | C | A | Pathogenic | criteria_provided,_single_submitter | missense_variant | -3.918063 | -7.729 | -1 | -17.041 |
1 | 1,804,508 | 1315581 | C | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -3.913554 | -7.729 | -1 | -16.842 |
1 | 1,804,562 | 995962 | C | A | Pathogenic | no_assertion_criteria_provided | 5_prime_UTR_variant,missense_variant | -3.636235 | -7.729 | -1 | -16.534 |
1 | 1,804,575 | 633546 | C | T | Pathogenic | criteria_provided,_multiple_submitters,_no_conflicts | 5_prime_UTR_variant,missense_variant | -3.542664 | -7.729 | -1 | -8.686 |
1 | 1,806,503 | 391609 | A | C | Pathogenic | criteria_provided,_single_submitter | 5_prime_UTR_variant,missense_variant | -4.387314 | -9.083 | -1 | -15.412 |
1 | 1,806,503 | 224715 | A | T | Pathogenic | criteria_provided,_multiple_submitters,_no_conflicts | 5_prime_UTR_variant,missense_variant | -4.256918 | -9.083 | -1 | -13.221 |
1 | 1,806,512 | 1315582 | C | A | Pathogenic | no_assertion_criteria_provided | 5_prime_UTR_variant,missense_variant | -3.826645 | -7.706 | -1 | -21.37 |
1 | 1,806,513 | 1700090 | C | A | Pathogenic | criteria_provided,_single_submitter | 5_prime_UTR_variant,missense_variant | -4.119774 | -7.706 | -1 | -12.053 |
1 | 1,806,514 | 1699320 | A | T | Pathogenic | criteria_provided,_single_submitter | 5_prime_UTR_variant,missense_variant | -3.207073 | -2.553 | -1 | -12.567 |
1 | 1,806,515 | 224711 | T | C | Pathogenic | criteria_provided,_multiple_submitters,_no_conflicts | 5_prime_UTR_variant,missense_variant | -4.491082 | -7.815 | -1 | -13.055 |
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