chrom
stringclasses 24
values | pos
int64 10.2k
249M
| ref
stringclasses 4
values | alt
stringclasses 4
values | label
stringclasses 4
values | source
stringclasses 4
values | consequence
stringlengths 9
465
| id
stringlengths 1
7
⌀ | review_status
stringclasses 5
values | GENOMIC_MUTATION_ID
stringlengths 12
12
⌀ | n_samples
float64 44
1.46k
⌀ | total_samples
float64 43.2k
43.2k
⌀ | freq
float64 0
0.03
⌀ | OMIM
stringlengths 3
10
⌀ | Gene
stringlengths 2
8
⌀ | PMID
float64 1.37M
26.6M
⌀ | AC
float64 1
152k
⌀ | AN
float64 140k
152k
⌀ | AF
float64 0
1
⌀ | MAF
float64 0
0.5
⌀ | MAC
float64 1
76.1k
⌀ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
X | 154,030,864 | G | C | Pathogenic | ClinVar | missense_variant | 143753 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,030,903 | G | A | Pathogenic | ClinVar | missense_variant | 143749 | reviewed_by_expert_panel | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,030,911 | C | A | Pathogenic | ClinVar | missense_variant | 143747 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,030,912 | G | A | Pathogenic | ClinVar | missense_variant | 11824 | reviewed_by_expert_panel | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,030,914 | T | C | Pathogenic | ClinVar | missense_variant | 143745 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,030,918 | T | G | Pathogenic | ClinVar | missense_variant | 420031 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,030,923 | G | A | Pathogenic | ClinVar | missense_variant | 143738 | reviewed_by_expert_panel | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,030,923 | G | T | Pathogenic | ClinVar | missense_variant | 143736 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,030,924 | G | C | Pathogenic | ClinVar | missense_variant | 143734 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,031,154 | G | A | Pathogenic | ClinVar | missense_variant | 11841 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,031,154 | G | C | Pathogenic | ClinVar | missense_variant | 143653 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,031,155 | G | T | Pathogenic | ClinVar | missense_variant | 143652 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,031,329 | G | A | Pathogenic | ClinVar | intron_variant,missense_variant | 143603 | reviewed_by_expert_panel | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,031,344 | T | C | Pathogenic | ClinVar | intron_variant,missense_variant | 180209 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,031,356 | T | C | Pathogenic | ClinVar | intron_variant,missense_variant | 143590 | reviewed_by_expert_panel | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,031,357 | G | C | Pathogenic | ClinVar | intron_variant,missense_variant | 143589 | reviewed_by_expert_panel | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,031,360 | G | C | Pathogenic | ClinVar | intron_variant,missense_variant | 95196 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,031,361 | T | C | Pathogenic | ClinVar | intron_variant,missense_variant | 143583 | reviewed_by_expert_panel | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,031,364 | A | G | Pathogenic | ClinVar | intron_variant,missense_variant | 11810 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,031,373 | G | C | Pathogenic | ClinVar | intron_variant,missense_variant | 143579 | reviewed_by_expert_panel | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,031,406 | T | C | Pathogenic | ClinVar | 5_prime_UTR_variant,missense_variant | 143569 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,031,418 | T | C | Pathogenic | ClinVar | 5_prime_UTR_variant,missense_variant | 11825 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,031,425 | T | C | Pathogenic | ClinVar | 5_prime_UTR_variant,missense_variant | 143564 | reviewed_by_expert_panel | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,031,427 | G | A | Pathogenic | ClinVar | 5_prime_UTR_variant,missense_variant | 143563 | reviewed_by_expert_panel | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,031,430 | C | A | Pathogenic | ClinVar | 5_prime_UTR_variant,missense_variant | 143560 | reviewed_by_expert_panel | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,031,430 | C | G | Pathogenic | ClinVar | 5_prime_UTR_variant,missense_variant | 1679147 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,031,430 | C | T | Pathogenic | ClinVar | 5_prime_UTR_variant,missense_variant | 143559 | reviewed_by_expert_panel | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,031,431 | G | A | Pathogenic | ClinVar | 5_prime_UTR_variant,missense_variant | 11809 | reviewed_by_expert_panel | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,031,436 | G | T | Pathogenic | ClinVar | 5_prime_UTR_variant,missense_variant | 143556 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,031,448 | G | A | Pathogenic | ClinVar | 5_prime_UTR_variant,missense_variant | 143552 | reviewed_by_expert_panel | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,032,212 | C | A | Pathogenic | ClinVar | 5_prime_UTR_variant,missense_variant | 143550 | reviewed_by_expert_panel | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,032,212 | C | G | Pathogenic | ClinVar | 5_prime_UTR_variant,missense_variant | 143549 | reviewed_by_expert_panel | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,032,220 | C | T | Pathogenic | ClinVar | 5_prime_UTR_variant,missense_variant | 143546 | reviewed_by_expert_panel | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,032,240 | C | T | Pathogenic | ClinVar | 5_prime_UTR_variant,missense_variant | 2505626 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,032,259 | T | C | Pathogenic | ClinVar | 5_prime_UTR_variant,missense_variant | 280546 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,032,282 | G | A | Pathogenic | ClinVar | 5_prime_UTR_variant,missense_variant | 143527 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,032,282 | G | C | Pathogenic | ClinVar | 5_prime_UTR_variant,missense_variant | 143526 | reviewed_by_expert_panel | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,032,282 | G | T | Pathogenic | ClinVar | 5_prime_UTR_variant,missense_variant | 143525 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,032,283 | G | A | Pathogenic | ClinVar | 5_prime_UTR_variant,missense_variant | 143524 | reviewed_by_expert_panel | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,032,286 | G | C | Pathogenic | ClinVar | 5_prime_UTR_variant,missense_variant | 11835 | reviewed_by_expert_panel | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,032,390 | G | A | Pathogenic | ClinVar | 5_prime_UTR_variant,missense_variant | 816914 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,092,190 | C | T | Pathogenic | ClinVar | 5_prime_UTR_variant,intron_variant,missense_variant | 372650 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,092,209 | T | A | Pathogenic | ClinVar | 5_prime_UTR_variant,initiatior_codon_variant,intron_variant,missense_variant | 192289 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,097,663 | C | T | Pathogenic | ClinVar | 5_prime_UTR_variant,initiatior_codon_variant,missense_variant | 1207096 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,154,602 | T | C | Pathogenic | ClinVar | missense_variant | 10505 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,158,844 | G | A | Pathogenic | ClinVar | missense_variant | 10506 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,187,939 | C | A | Pathogenic | ClinVar | missense_variant | 10512 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,190,173 | T | C | Pathogenic | ClinVar | missense_variant | 10513 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,191,716 | T | C | Pathogenic | ClinVar | missense_variant | 10508 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,195,934 | G | A | Pathogenic | ClinVar | missense_variant | 10509 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,350,049 | G | T | Pathogenic | ClinVar | missense_variant | 11760 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,351,007 | A | G | Pathogenic | ClinVar | missense_variant | 1321934 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,354,860 | C | A | Pathogenic | ClinVar | missense_variant | 11768 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,360,127 | G | A | Pathogenic | ClinVar | missense_variant | 405445 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,360,199 | G | A | Pathogenic | ClinVar | missense_variant | 11759 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,360,233 | C | T | Pathogenic | ClinVar | missense_variant | 11758 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,360,319 | T | G | Pathogenic | ClinVar | missense_variant | 11757 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,364,263 | A | T | Pathogenic | ClinVar | missense_variant | 11778 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,364,638 | G | A | Pathogenic | ClinVar | missense_variant | 931568 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,364,638 | G | T | Pathogenic | ClinVar | missense_variant | 11776 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,367,403 | C | T | Pathogenic | ClinVar | missense_variant | 11777 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,367,505 | C | T | Pathogenic | ClinVar | missense_variant | 11756 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,367,679 | C | A | Pathogenic | ClinVar | missense_variant | 1683443 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,367,732 | C | A | Pathogenic | ClinVar | missense_variant | 11773 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,367,842 | C | G | Pathogenic | ClinVar | missense_variant | 209069 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,367,857 | C | A | Pathogenic | ClinVar | missense_variant | 11766 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,368,081 | G | A | Pathogenic | ClinVar | missense_variant | 11767 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,371,001 | T | A | Pathogenic | ClinVar | missense_variant | 11754 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,371,130 | G | C | Pathogenic | ClinVar | missense_variant | 11765 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,371,164 | T | C | Pathogenic | ClinVar | missense_variant | 488068 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,379,485 | A | G | Pathogenic | ClinVar | initiatior_codon_variant,missense_variant | 11172 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,379,486 | T | G | Pathogenic | ClinVar | initiatior_codon_variant,missense_variant | 1074958 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,379,487 | G | A | Pathogenic | ClinVar | initiatior_codon_variant,missense_variant | 281087 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,380,979 | C | A | Pathogenic | ClinVar | missense_variant | 11179 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,380,980 | C | A | Pathogenic | ClinVar | missense_variant | 11178 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,399,803 | C | T | Pathogenic | ClinVar | missense_variant | 430614 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,399,844 | A | G | Pathogenic | ClinVar | missense_variant | 430612 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,400,615 | G | A | Pathogenic | ClinVar | 3_prime_UTR_variant,intron_variant,missense_variant | 430613 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,412,183 | C | G | Pathogenic | ClinVar | missense_variant,non-coding_transcript_variant | 559335 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,413,248 | C | A | Pathogenic | ClinVar | missense_variant,non-coding_transcript_variant | 11110 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,413,507 | T | C | Pathogenic | ClinVar | missense_variant,non-coding_transcript_variant | 42257 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,419,608 | C | T | Pathogenic | ClinVar | missense_variant,non-coding_transcript_variant | 202100 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,420,037 | G | A | Pathogenic | ClinVar | missense_variant,non-coding_transcript_variant | 11105 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,420,676 | G | C | Pathogenic | ClinVar | missense_variant,non-coding_transcript_variant | 42266 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,429,107 | T | C | Pathogenic | ClinVar | missense_variant | 915879 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,432,333 | T | C | Pathogenic | ClinVar | missense_variant | 236240 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,433,685 | T | A | Pathogenic | ClinVar | missense_variant | 973847 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,435,153 | A | G | Pathogenic | ClinVar | missense_variant | 236242 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,435,762 | G | A | Pathogenic | ClinVar | missense_variant | 236239 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,442,596 | G | C | Pathogenic | ClinVar | missense_variant | 11628 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,477,966 | A | G | Pathogenic | ClinVar | missense_variant | 444872 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,478,284 | C | A | Pathogenic | ClinVar | missense_variant | 444871 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,082 | G | A | Pathogenic | ClinVar | missense_variant | 1722689 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,083 | G | A | Pathogenic | ClinVar | missense_variant | 811096 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,085 | C | A | Pathogenic | ClinVar | missense_variant | 1722688 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,257 | C | A | Pathogenic | ClinVar | missense_variant | 2504081 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,257 | C | T | Pathogenic | ClinVar | missense_variant | 100059 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,269 | C | A | Pathogenic | ClinVar | missense_variant | 100058 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,269 | C | G | Pathogenic | ClinVar | missense_variant | 10422 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,532,389 | C | T | Pathogenic | ClinVar | missense_variant | 10379 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |