chrom stringclasses 24 values | pos int64 45.7k 248M | ref stringclasses 4 values | alt stringclasses 4 values | label stringclasses 2 values | id stringlengths 1 7 | review_status stringclasses 5 values | consequence stringclasses 77 values |
|---|---|---|---|---|---|---|---|
1 | 7,737,485 | G | C | Benign | 730882 | criteria_provided,_single_submitter | missense_variant |
1 | 7,737,559 | G | A | Benign | 737821 | criteria_provided,_single_submitter | missense_variant |
1 | 7,737,565 | A | C | Benign | 714195 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 7,737,567 | C | G | Benign | 2058069 | criteria_provided,_single_submitter | missense_variant |
1 | 7,809,893 | C | G | Pathogenic | 242410 | criteria_provided,_single_submitter | missense_variant |
1 | 7,809,900 | A | G | Pathogenic | 242411 | criteria_provided,_single_submitter | missense_variant |
1 | 7,809,908 | G | A | Benign | 783921 | criteria_provided,_single_submitter | missense_variant |
1 | 7,827,174 | C | T | Benign | 780748 | criteria_provided,_single_submitter | missense_variant |
1 | 7,827,202 | G | A | Benign | 779061 | criteria_provided,_single_submitter | missense_variant |
1 | 7,827,439 | T | G | Benign | 741381 | criteria_provided,_single_submitter | missense_variant |
1 | 7,842,676 | G | C | Benign | 789550 | criteria_provided,_single_submitter | missense_variant |
1 | 7,852,915 | G | A | Benign | 709174 | criteria_provided,_single_submitter | missense_variant |
1 | 7,935,030 | G | T | Benign | 775499 | criteria_provided,_single_submitter | missense_variant |
1 | 7,938,214 | C | T | Pathogenic | 2444021 | no_assertion_criteria_provided | missense_variant |
1 | 7,962,863 | G | A | Pathogenic | 7065 | no_assertion_criteria_provided | missense_variant |
1 | 7,965,348 | G | T | Pathogenic | 7069 | no_assertion_criteria_provided | missense_variant |
1 | 7,965,425 | G | C | Pathogenic | 7067 | no_assertion_criteria_provided | missense_variant |
1 | 7,970,963 | G | A | Pathogenic | 1334459 | criteria_provided,_single_submitter | missense_variant |
1 | 7,984,981 | T | C | Pathogenic | 7064 | no_assertion_criteria_provided | missense_variant |
1 | 8,013,883 | G | A | Benign | 710834 | criteria_provided,_single_submitter | missense_variant |
1 | 8,014,127 | T | G | Benign | 791774 | criteria_provided,_single_submitter | missense_variant |
1 | 8,335,500 | G | T | Benign | 1333148 | criteria_provided,_single_submitter | missense_variant |
1 | 8,355,567 | T | C | Benign | 2150683 | criteria_provided,_single_submitter | missense_variant |
1 | 8,356,159 | G | A | Pathogenic | 1686125 | criteria_provided,_single_submitter | missense_variant |
1 | 8,358,216 | T | C | Pathogenic | 562007 | criteria_provided,_single_submitter | missense_variant |
1 | 8,358,230 | G | C | Pathogenic | 545041 | criteria_provided,_single_submitter | missense_variant |
1 | 8,358,232 | G | A | Pathogenic | 562005 | criteria_provided,_single_submitter | missense_variant |
1 | 8,358,235 | A | G | Pathogenic | 562004 | criteria_provided,_single_submitter | missense_variant |
1 | 8,358,238 | G | A | Pathogenic | 1686749 | criteria_provided,_single_submitter | missense_variant |
1 | 8,358,264 | G | A | Pathogenic | 1254418 | criteria_provided,_single_submitter | missense_variant |
1 | 8,358,481 | C | A | Benign | 2128607 | criteria_provided,_single_submitter | missense_variant |
1 | 8,358,481 | C | T | Benign | 1599420 | criteria_provided,_single_submitter | missense_variant |
1 | 8,358,868 | T | C | Benign | 1935090 | criteria_provided,_single_submitter | missense_variant |
1 | 8,358,882 | C | G | Benign | 1939240 | criteria_provided,_single_submitter | missense_variant |
1 | 8,358,888 | C | T | Benign | 1519139 | criteria_provided,_single_submitter | missense_variant |
1 | 8,359,916 | C | T | Pathogenic | 236216 | no_assertion_criteria_provided | missense_variant |
1 | 8,359,926 | C | G | Benign | 1915407 | criteria_provided,_single_submitter | missense_variant |
1 | 8,360,443 | G | C | Benign | 445630 | criteria_provided,_single_submitter | missense_variant |
1 | 8,360,503 | C | T | Benign | 1694488 | criteria_provided,_single_submitter | missense_variant |
1 | 8,360,646 | G | A | Benign | 976254 | criteria_provided,_single_submitter | missense_variant |
1 | 8,422,737 | T | C | Benign | 711834 | criteria_provided,_single_submitter | 5_prime_UTR_variant,missense_variant |
1 | 8,466,005 | C | T | Benign | 2420663 | criteria_provided,_single_submitter | missense_variant |
1 | 8,656,003 | T | C | Benign | 2009763 | criteria_provided,_single_submitter | missense_variant |
1 | 8,656,243 | G | A | Benign | 1627301 | criteria_provided,_single_submitter | missense_variant |
1 | 9,013,532 | A | T | Benign | 775501 | criteria_provided,_single_submitter | missense_variant |
1 | 9,023,035 | G | T | Benign | 780761 | criteria_provided,_single_submitter | missense_variant |
1 | 9,047,700 | T | C | Benign | 771300 | criteria_provided,_single_submitter | intron_variant,missense_variant |
1 | 9,245,334 | C | T | Benign | 735495 | criteria_provided,_single_submitter | missense_variant |
1 | 9,245,386 | A | C | Benign | 1601522 | criteria_provided,_single_submitter | missense_variant |
1 | 9,247,017 | G | A | Benign | 777320 | criteria_provided,_single_submitter | missense_variant |
1 | 9,263,569 | G | A | Pathogenic | 31585 | no_assertion_criteria_provided | missense_variant |
1 | 9,263,826 | G | A | Benign | 1558499 | criteria_provided,_single_submitter | missense_variant |
1 | 9,263,851 | G | A | Benign | 16131 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 9,263,943 | A | G | Benign | 784929 | criteria_provided,_single_submitter | missense_variant |
1 | 9,264,154 | C | T | Benign | 1600034 | criteria_provided,_single_submitter | missense_variant |
1 | 9,264,279 | G | A | Benign | 787734 | criteria_provided,_single_submitter | missense_variant |
1 | 9,264,483 | G | A | Benign | 2064085 | criteria_provided,_single_submitter | missense_variant |
1 | 9,264,760 | C | T | Benign | 759949 | criteria_provided,_single_submitter | missense_variant |
1 | 9,595,907 | C | T | Benign | 775503 | criteria_provided,_single_submitter | missense_variant |
1 | 9,610,680 | C | A | Benign | 785929 | criteria_provided,_single_submitter | missense_variant |
1 | 9,612,988 | C | T | Benign | 775507 | criteria_provided,_single_submitter | missense_variant |
1 | 9,717,064 | G | A | Benign | 474036 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 9,717,541 | C | G | Benign | 440066 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 9,719,924 | T | C | Pathogenic | 132808 | no_assertion_criteria_provided | missense_variant |
1 | 9,720,138 | A | G | Benign | 474023 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 9,720,166 | C | T | Benign | 709503 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 9,720,790 | T | A | Pathogenic | 1406866 | criteria_provided,_single_submitter | missense_variant |
1 | 9,720,791 | A | C | Pathogenic | 1457684 | criteria_provided,_single_submitter | missense_variant |
1 | 9,726,972 | G | A | Pathogenic | 88675 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 9,726,985 | A | G | Pathogenic | 422410 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 9,773,277 | A | T | Benign | 791146 | criteria_provided,_single_submitter | missense_variant |
1 | 9,972,074 | A | G | Pathogenic | 978252 | no_assertion_criteria_provided | initiatior_codon_variant,missense_variant |
1 | 9,972,096 | A | C | Benign | 798231 | criteria_provided,_single_submitter | missense_variant |
1 | 9,972,098 | G | A | Pathogenic | 37140 | criteria_provided,_single_submitter | missense_variant |
1 | 9,975,672 | C | T | Pathogenic | 982555 | criteria_provided,_single_submitter | missense_variant |
1 | 9,975,681 | A | G | Pathogenic | 972092 | criteria_provided,_single_submitter | missense_variant |
1 | 9,975,721 | T | C | Pathogenic | 1062688 | no_assertion_criteria_provided | missense_variant |
1 | 9,982,318 | C | G | Pathogenic | 37139 | no_assertion_criteria_provided | missense_variant |
1 | 9,982,480 | C | T | Pathogenic | 37133 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 9,982,490 | T | C | Pathogenic | 813197 | criteria_provided,_single_submitter | missense_variant |
1 | 9,982,570 | C | T | Pathogenic | 845745 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 9,982,571 | G | T | Pathogenic | 37138 | no_assertion_criteria_provided | missense_variant |
1 | 9,982,577 | T | C | Pathogenic | 464670 | criteria_provided,_single_submitter | missense_variant |
1 | 9,982,630 | G | A | Pathogenic | 37134 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 9,982,678 | A | G | Pathogenic | 37135 | no_assertion_criteria_provided | missense_variant |
1 | 10,135,127 | A | G | Benign | 778206 | criteria_provided,_single_submitter | missense_variant |
1 | 10,258,602 | A | T | Pathogenic | 4658 | no_assertion_criteria_provided | missense_variant |
1 | 10,297,018 | T | A | Benign | 917102 | criteria_provided,_single_submitter | missense_variant |
1 | 10,303,606 | G | T | Benign | 218862 | criteria_provided,_multiple_submitters,_no_conflicts | intron_variant,missense_variant |
1 | 10,321,829 | A | G | Benign | 240957 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 10,337,509 | A | G | Benign | 291567 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 10,345,923 | T | C | Benign | 2445412 | criteria_provided,_single_submitter | missense_variant |
1 | 10,368,512 | G | A | Benign | 240959 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 10,461,512 | C | T | Benign | 786715 | criteria_provided,_single_submitter | 3_prime_UTR_variant,missense_variant |
1 | 10,463,076 | T | A | Benign | 791778 | criteria_provided,_single_submitter | missense_variant |
1 | 10,463,569 | A | G | Benign | 777880 | criteria_provided,_single_submitter | missense_variant |
1 | 10,623,109 | G | A | Benign | 291677 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 10,639,009 | G | C | Benign | 1294667 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 10,639,068 | G | T | Benign | 2160262 | criteria_provided,_single_submitter | missense_variant |
1 | 10,639,987 | A | C | Benign | 1599392 | criteria_provided,_single_submitter | missense_variant |
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