chrom string | pos int64 | ref string | alt string | ClinSigSimple int64 | ClinicalSignificance string | ReviewStatus string | NumberSubmitters int64 | GeneSymbol string | VariationID int64 | feature_lvl2 string | genomic_element string | consequence string | variant_type string |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr22 | 30,626,648 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | TCN2 | 341,219 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr22 | 30,626,965 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | TCN2 | 341,226 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr22 | 30,610,873 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | TCN2 | 341,188 | Near Splice site (<= 5bp) | CDS | missense_variant | SNV |
chr22 | 30,612,880 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 5 | TCN2 | 341,191 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr22 | 30,615,293 | A | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | TCN2 | 341,199 | Far from Splice site (> 5bp) | splice_site | splice_region_variant | SNV |
chr22 | 30,615,724 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 5 | TCN2 | 341,204 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr22 | 30,617,432 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | TCN2 | 341,211 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr22 | 30,626,746 | A | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | TCN2 | 341,221 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr22 | 30,615,687 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | TCN2 | 341,203 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr22 | 30,622,988 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 5 | TCN2 | 341,214 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr22 | 30,626,903 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | TCN2 | 341,225 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr22 | 30,612,895 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 10 | TCN2 | 440,324 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr22 | 30,615,611 | C | CT | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | TCN2 | 460,319 | Far from Splice site (> 5bp) | CDS | frameshift_variant | insertion |
chr22 | 30,612,975 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | TCN2 | 720,461 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr22 | 30,615,293 | A | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | TCN2 | 735,212 | Far from Splice site (> 5bp) | splice_site | splice_region_variant | SNV |
chr22 | 30,615,343 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | TCN2 | 738,878 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr22 | 30,614,468 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | TCN2 | 794,851 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr22 | 30,614,347 | A | G | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | TCN2 | 942,477 | Near Splice site (<= 5bp) | splice_site | splice_acceptor_variant | SNV |
chr22 | 30,610,870 | GA | TT | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | TCN2 | 1,067,218 | Near Splice site (<= 5bp) | splice_site | splice_acceptor_variant | MNV |
chr22 | 30,610,854 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | TCN2 | 1,170,813 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr22 | 30,613,059 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | TCN2 | 1,165,417 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr22 | 30,613,131 | T | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | TCN2 | 1,179,882 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr22 | 30,626,292 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | TCN2 | 1,183,505 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr22 | 30,617,309 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | TCN2 | 1,222,428 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr22 | 30,615,919 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | TCN2 | 1,224,966 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr22 | 30,623,248 | A | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | TCN2 | 1,228,909 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr22 | 30,614,253 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | TCN2 | 1,237,377 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr22 | 30,622,897 | G | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | TCN2 | 1,236,900 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr22 | 30,615,570 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | TCN2 | 1,236,541 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr22 | 30,610,715 | T | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | TCN2 | 1,243,812 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr22 | 30,626,285 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | TCN2 | 1,243,281 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr22 | 30,622,790 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | TCN2 | 1,246,097 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr22 | 30,615,517 | CAG | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | TCN2 | 1,259,609 | Far from Splice site (> 5bp) | intron | intron_variant | deletion |
chr22 | 30,622,830 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | TCN2 | 1,267,520 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr22 | 30,612,758 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | TCN2 | 1,269,240 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr22 | 30,617,562 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | TCN2 | 1,275,498 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr22 | 30,614,569 | C | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | TCN2 | 1,279,378 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr22 | 30,626,314 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | TCN2 | 1,283,563 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr22 | 30,614,255 | G | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | TCN2 | 1,287,252 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr22 | 30,607,574 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | TCN2 | 1,291,876 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr22 | 30,615,895 | A | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | TCN2 | 1,291,949 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr22 | 30,617,385 | C | CA | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | TCN2 | 1,675,884 | Far from Splice site (> 5bp) | CDS | frameshift_variant | insertion |
chr22 | 30,622,986 | C | CT | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | TCN2 | 1,810,225 | Far from Splice site (> 5bp) | CDS | frameshift_variant | insertion |
chr22 | 30,612,957 | CA | C | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | TCN2 | 2,633,460 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr22 | 30,615,399 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | TCN2 | 2,737,035 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr2 | 29,071,493 | GTCCAGGGCTGGCT | G | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 6 | PCARE | 105 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr2 | 29,074,078 | G | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PCARE | 93,472 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr2 | 29,064,947 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 8 | PCARE | 166,758 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr2 | 29,070,580 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | PCARE | 193,133 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr2 | 29,071,387 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 7 | PCARE | 193,141 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr2 | 29,071,203 | TG | CT | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | PCARE | 193,142 | Far from Splice site (> 5bp) | CDS | missense_variant | MNV |
chr2 | 29,072,150 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 8 | PCARE | 193,145 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr2 | 29,072,380 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | PCARE | 193,147 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr2 | 29,064,997 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 10 | PCARE | 195,107 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr2 | 29,070,815 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 8 | PCARE | 283,187 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr2 | 29,071,373 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 5 | PCARE | 286,246 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr2 | 29,071,888 | G | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 6 | PCARE | 287,769 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr2 | 29,071,763 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 6 | PCARE | 287,770 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr2 | 29,072,434 | G | A | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | PCARE | 288,775 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr2 | 29,062,709 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PCARE | 335,590 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr2 | 29,062,765 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PCARE | 335,591 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr2 | 29,063,327 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PCARE | 335,601 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr2 | 29,064,363 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PCARE | 335,628 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr2 | 29,064,842 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | PCARE | 335,635 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr2 | 29,072,523 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 5 | PCARE | 335,655 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr2 | 29,074,004 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 5 | PCARE | 335,672 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr2 | 29,074,225 | T | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | PCARE | 335,675 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr2 | 29,061,940 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PCARE | 335,573 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr2 | 29,062,199 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PCARE | 335,576 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr2 | 29,063,206 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PCARE | 335,599 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr2 | 29,063,643 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PCARE | 335,609 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr2 | 29,063,804 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PCARE | 335,613 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr2 | 29,064,039 | G | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PCARE | 335,621 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr2 | 29,073,000 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | PCARE | 335,665 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr2 | 29,073,583 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | PCARE | 335,668 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr2 | 29,074,202 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 5 | PCARE | 335,674 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr2 | 29,062,115 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PCARE | 335,575 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr2 | 29,062,388 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PCARE | 335,584 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr2 | 29,062,590 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PCARE | 335,588 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr2 | 29,062,847 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PCARE | 335,592 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr2 | 29,063,498 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PCARE | 335,605 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr2 | 29,064,326 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PCARE | 335,625 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr2 | 29,072,810 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 5 | PCARE | 335,662 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr2 | 29,061,812 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PCARE | 335,569 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr2 | 29,062,284 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PCARE | 335,578 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr2 | 29,062,344 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PCARE | 335,583 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr2 | 29,064,361 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PCARE | 335,626 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr2 | 29,065,060 | C | CGCT | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 5 | PCARE | 335,637 | Far from Splice site (> 5bp) | intergenic | conservative_inframe_insertion | insertion |
chr2 | 29,071,260 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 11 | PCARE | 438,048 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr2 | 29,072,716 | A | AT | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | PCARE | 522,284 | Far from Splice site (> 5bp) | CDS | frameshift_variant | insertion |
chr2 | 29,071,963 | TG | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | PCARE | 545,943 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr2 | 29,064,896 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | PCARE | 772,842 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr2 | 29,072,320 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 5 | PCARE | 777,945 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr2 | 29,070,740 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 6 | PCARE | 785,849 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr2 | 29,073,489 | C | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | PCARE | 780,343 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr2 | 29,073,507 | G | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | PCARE | 781,944 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr2 | 29,073,896 | A | G | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | PCARE | 780,345 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr2 | 29,072,875 | C | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | PCARE | 728,217 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr2 | 29,064,975 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | PCARE | 738,564 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr2 | 29,071,881 | A | AT | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | PCARE | 808,719 | Far from Splice site (> 5bp) | CDS | frameshift_variant | insertion |
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