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
⌀ |
|---|---|---|---|---|---|---|---|---|---|---|
1 | 930,165 | 1164676 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -4.225333 | -5.113 | -1 |
1 | 930,204 | 1170208 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -2.879554 | -3.43 | -1 |
1 | 930,285 | 1165489 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -0.091394 | -0.322 | -0.107 |
1 | 930,314 | 1170010 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -2.481464 | -3.747 | -0.081 |
1 | 930,325 | 1168187 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | -1.053778 | -4.888 | -1 |
1 | 931,042 | 1170044 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | -0.859119 | -0.457 | -1 |
1 | 935,766 | 1169977 | C | T | Benign | criteria_provided,_single_submitter | intron_variant | -0.59104 | -0.765 | -0 |
1 | 935,779 | 1167937 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -1.831757 | -2.981 | -1 |
1 | 935,796 | 1169805 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | -1.284084 | -1.294 | -1 |
1 | 935,835 | 1170011 | C | G | Benign | criteria_provided,_single_submitter | synonymous_variant | 0.024537 | 1.271 | -0.025 |
1 | 935,835 | 1169806 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | 0.003114 | 1.271 | -0.025 |
1 | 935,859 | 1169668 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | -1.299421 | -2.481 | -1 |
1 | 939,035 | 1166157 | C | T | Benign | criteria_provided,_single_submitter | intron_variant | 0.033567 | 1.078 | -0 |
1 | 939,146 | 1167425 | G | C | Benign | criteria_provided,_single_submitter | intron_variant | -0.19255 | 0.287 | -0 |
1 | 939,285 | 1164752 | G | A | Benign | criteria_provided,_single_submitter | synonymous_variant | -0.801175 | -2.518 | -1 |
1 | 939,291 | 1600975 | G | T | Benign | criteria_provided,_single_submitter | synonymous_variant | -0.015176 | 0.86 | -0.034 |
1 | 939,354 | 1165631 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | 0.102527 | 1.335 | -0 |
1 | 939,429 | 1167351 | G | C | Benign | criteria_provided,_single_submitter | intron_variant,missense_variant | -0.313022 | 0.492 | -0 |
1 | 942,265 | 1164166 | T | G | Benign | criteria_provided,_single_submitter | intron_variant | -0.7617 | -0.375 | -0.002 |
1 | 942,402 | 1170012 | C | G | Benign | criteria_provided,_single_submitter | intron_variant | -0.680593 | -0.045 | -0 |
1 | 942,451 | 1166513 | T | C | Benign | criteria_provided,_single_submitter | missense_variant | -1.997533 | -1.367 | -0.656 |
1 | 942,481 | 1166588 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | -0.877491 | -0.301 | -0.966 |
1 | 942,541 | 1170910 | C | T | Benign | criteria_provided,_single_submitter | intron_variant | 0.019966 | 2.215 | -0 |
1 | 942,560 | 1168428 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | -0.966239 | -0.23 | -0.924 |
1 | 942,577 | 1167193 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | -0.525874 | -0.71 | -0.505 |
1 | 942,649 | 1164675 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | 0.311415 | 2.685 | -0 |
1 | 942,916 | 1167525 | C | G | Benign | criteria_provided,_single_submitter | synonymous_variant | 0.315454 | 5.108 | -0 |
1 | 942,930 | 1169836 | T | C | Benign | criteria_provided,_single_submitter | missense_variant | -0.46896 | 0.204 | -0 |
1 | 942,934 | 1168912 | G | C | Benign | criteria_provided,_single_submitter | synonymous_variant | 0.032194 | 0.88 | -0 |
1 | 942,945 | 1170437 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -0.523057 | 0.755 | -0 |
1 | 942,951 | 1170505 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -0.69239 | 0.13 | -0 |
1 | 943,067 | 1165302 | C | T | Benign | criteria_provided,_single_submitter | intron_variant | -1.157653 | -0.172 | -0 |
1 | 943,073 | 1168865 | A | G | Benign | criteria_provided,_single_submitter | intron_variant | -0.326789 | 0.939 | -0 |
1 | 943,329 | 1169239 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | -0.009341 | 2.033 | -0 |
1 | 943,365 | 1167526 | A | C | Benign | criteria_provided,_single_submitter | synonymous_variant | -0.426692 | 1.435 | -0 |
1 | 943,384 | 1164753 | G | C | Benign | criteria_provided,_single_submitter | intron_variant | -0.242028 | -0.302 | -0.887 |
1 | 943,389 | 1168967 | C | G | Benign | criteria_provided,_single_submitter | intron_variant | 0.579139 | 1.748 | -0 |
1 | 943,689 | 1169212 | C | G | Benign | criteria_provided,_single_submitter | intron_variant | -0.384956 | 0.528 | -0 |
1 | 943,755 | 1169285 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | -0.459439 | -2.538 | -1 |
1 | 943,773 | 1168747 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | -0.762687 | -3.979 | -1 |
1 | 943,896 | 1168677 | A | G | Benign | criteria_provided,_single_submitter | intron_variant | -0.292912 | 0.716 | -0 |
1 | 943,937 | 1168913 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | -0.502445 | -2.935 | -1 |
1 | 943,946 | 1169808 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | -0.667406 | -1.043 | -1 |
1 | 943,991 | 1169800 | G | A | Benign | criteria_provided,_single_submitter | synonymous_variant | 0.740867 | 4.388 | -0 |
1 | 943,995 | 950448 | C | T | Pathogenic | criteria_provided,_single_submitter | nonsense | -7.210717 | 0.307 | -0 |
1 | 944,001 | 1164573 | C | T | Benign | criteria_provided,_single_submitter | missense_variant | -1.909588 | -0.814 | -0.002 |
1 | 944,003 | 1168847 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | 0.174241 | 1.032 | -0 |
1 | 944,004 | 1164106 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -0.009384 | 0.304 | -0 |
1 | 944,029 | 1168053 | C | G | Benign | criteria_provided,_single_submitter | missense_variant | -2.31958 | -1.335 | -0.001 |
1 | 944,033 | 1168848 | G | A | Benign | criteria_provided,_single_submitter | synonymous_variant | 0.337995 | 0.194 | -0 |
1 | 944,051 | 1166842 | T | C | Benign | criteria_provided,_single_submitter | synonymous_variant | 0.064519 | -0.123 | -0 |
1 | 944,101 | 780745 | G | C | Benign | criteria_provided,_single_submitter | missense_variant | -2.087584 | -2.811 | -1 |
1 | 944,102 | 1166028 | G | C | Benign | criteria_provided,_single_submitter | synonymous_variant | 0.233271 | 0.611 | -0 |
1 | 945,564 | 730521 | G | A | Benign | criteria_provided,_single_submitter | synonymous_variant | -0.348781 | 0.449 | -0.213 |
1 | 952,029 | 735490 | G | C | Benign | criteria_provided,_single_submitter | synonymous_variant | 0.133668 | 1.235 | -0.006 |
1 | 952,609 | 730522 | A | G | Benign | criteria_provided,_single_submitter | intron_variant | -0.22189 | -0.718 | -0 |
1 | 954,070 | 734103 | C | A | Benign | criteria_provided,_single_submitter | synonymous_variant | 0.563296 | 6.291 | -0 |
1 | 956,990 | 735492 | T | C | Benign | criteria_provided,_single_submitter | synonymous_variant | 0.032839 | 4.639 | -0 |
1 | 957,132 | 735493 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | 0.277895 | -0.385 | -0.564 |
1 | 962,346 | 784924 | C | T | Benign | criteria_provided,_single_submitter | intron_variant | -0.240792 | 0.218 | -0 |
1 | 962,739 | 787730 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | 0.240826 | 2.749 | -0 |
1 | 963,233 | 775485 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | -0.801934 | -3.055 | -1 |
1 | 963,472 | 773624 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | 0.418939 | 5.948 | -0 |
1 | 965,059 | 733717 | G | A | Benign | criteria_provided,_single_submitter | synonymous_variant | -0.229911 | 4.142 | -0 |
1 | 966,542 | 782833 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -2.509645 | -0.169 | -0.004 |
1 | 966,543 | 782834 | C | A | Benign | criteria_provided,_single_submitter | missense_variant | -3.16139 | 0.285 | -0 |
1 | 970,514 | 710495 | C | T | Benign | criteria_provided,_single_submitter | intron_variant | 0.192636 | 0.604 | -0 |
1 | 972,895 | 770481 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -0.504602 | -1.814 | -0.061 |
1 | 973,842 | 791106 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | -1.832995 | -2.734 | -0.063 |
1 | 1,013,541 | 1185394 | T | C | Benign | criteria_provided,_single_submitter | 5_prime_UTR_variant | -0.454751 | 0.966 | -0 |
1 | 1,013,855 | 1185395 | G | A | Benign | criteria_provided,_single_submitter | intron_variant | -0.306332 | 0.255 | -0 |
1 | 1,013,983 | 1028857 | G | A | Pathogenic | criteria_provided,_single_submitter | splice_acceptor_variant | -5.371775 | -3.084 | -0.883 |
1 | 1,014,013 | 1165230 | G | A | Benign | criteria_provided,_single_submitter | synonymous_variant | -0.115661 | 2.522 | -0 |
1 | 1,014,042 | 475283 | G | A | Benign | criteria_provided,_single_submitter | missense_variant | 0.443816 | 0.676 | -0 |
1 | 1,014,058 | 740895 | A | G | Benign | criteria_provided,_single_submitter | synonymous_variant | 0.004995 | 4.683 | -0 |
1 | 1,014,143 | 183381 | C | T | Pathogenic | no_assertion_criteria_provided | nonsense | -5.446379 | 0.076 | -0.001 |
1 | 1,014,199 | 1170512 | G | T | Benign | criteria_provided,_single_submitter | synonymous_variant | -0.727931 | -1.24 | -0.132 |
1 | 1,014,228 | 402986 | G | A | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -0.027262 | 0.396 | -0 |
1 | 1,014,274 | 1166514 | A | G | Benign | criteria_provided,_multiple_submitters,_no_conflicts | synonymous_variant | -0.411615 | 0.133 | -0.001 |
1 | 1,014,359 | 161454 | G | T | Pathogenic | no_assertion_criteria_provided | nonsense | -6.081782 | 0.562 | -0 |
1 | 1,014,451 | 475281 | C | T | Benign | criteria_provided,_single_submitter | synonymous_variant | -0.053048 | 4.918 | -0 |
1 | 1,014,457 | 745342 | A | G | Benign | criteria_provided,_single_submitter | synonymous_variant | -0.150601 | 0.528 | -0 |
1 | 1,020,183 | 387476 | G | C | Benign | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant | -0.812271 | 1.405 | -0 |
1 | 1,020,217 | 128310 | G | T | Benign | criteria_provided,_multiple_submitters,_no_conflicts | synonymous_variant | -0.967963 | -0.853 | -0.619 |
1 | 1,022,188 | 263166 | A | G | Benign | criteria_provided,_multiple_submitters,_no_conflicts | intron_variant | -0.423558 | 1.225 | -0 |
1 | 1,022,260 | 128296 | C | T | Benign | criteria_provided,_multiple_submitters,_no_conflicts | synonymous_variant | 0.207342 | 2.211 | -0 |
1 | 1,022,313 | 243037 | A | T | Pathogenic | no_assertion_criteria_provided | missense_variant | -4.210583 | -5.733 | -1 |
1 | 1,022,481 | 1622861 | G | A | Benign | criteria_provided,_single_submitter | intron_variant | 0.467869 | 1.292 | -0 |
1 | 1,022,518 | 677944 | G | T | Benign | criteria_provided,_single_submitter | intron_variant | -0.183806 | 0.495 | -0 |
1 | 1,035,037 | 678943 | A | C | Benign | criteria_provided,_single_submitter | intron_variant | 0.084866 | 0.512 | -0 |
1 | 1,035,260 | 1599055 | G | A | Benign | criteria_provided,_single_submitter | intron_variant | -0.037567 | 0.344 | -0 |
1 | 1,035,408 | 1268099 | G | A | Benign | criteria_provided,_single_submitter | intron_variant | 0.35189 | 2.241 | -0 |
1 | 1,035,456 | 678944 | G | A | Benign | criteria_provided,_single_submitter | intron_variant | -0.21045 | 0.156 | -0 |
1 | 1,035,535 | 1241057 | C | T | Benign | criteria_provided,_single_submitter | intron_variant | 0.253741 | 1.334 | -0 |
1 | 1,040,401 | 1266973 | C | T | Benign | criteria_provided,_single_submitter | intron_variant | -0.525686 | 0.432 | -0 |
1 | 1,041,134 | 1295659 | C | A | Benign | criteria_provided,_single_submitter | intron_variant | -0.046878 | 2.249 | -0.002 |
1 | 1,041,158 | 1652233 | A | C | Benign | criteria_provided,_single_submitter | intron_variant | -0.402578 | 0.161 | -0 |
1 | 1,041,174 | 263202 | C | G | Benign | criteria_provided,_multiple_submitters,_no_conflicts | synonymous_variant | -0.437628 | -0.244 | -0.974 |
1 | 1,041,249 | 128320 | C | T | Benign | criteria_provided,_multiple_submitters,_no_conflicts | synonymous_variant | -0.634953 | 0.048 | -0.015 |
1 | 1,041,582 | 126556 | C | T | Pathogenic | no_assertion_criteria_provided | nonsense | -5.530695 | -0.212 | -0 |
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