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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr10 | 98,459,557 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | HPSE2 | 1,228,841 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr10 | 99,232,550 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | HPSE2 | 1,231,950 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 98,459,505 | G | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | HPSE2 | 1,237,632 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr10 | 98,461,839 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | HPSE2 | 1,241,987 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 98,490,429 | A | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | HPSE2 | 1,262,411 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 98,641,988 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | HPSE2 | 1,265,783 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 98,693,965 | A | AAAAAAGATAT | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | HPSE2 | 1,276,944 | Far from Splice site (> 5bp) | intron | intron_variant | insertion |
chr10 | 99,232,255 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | HPSE2 | 1,283,224 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 98,744,036 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | HPSE2 | 1,285,231 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr10 | 98,620,653 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | HPSE2 | 1,616,155 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr10 | 98,620,709 | C | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | HPSE2 | 1,691,127 | Near Splice site (<= 5bp) | splice_site | splice_acceptor_variant | SNV |
chr8 | 18,064,501 | T | A | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | ASAH1 | 92 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr8 | 18,064,458 | T | G | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 6 | ASAH1 | 180,643 | Near Splice site (<= 5bp) | CDS | missense_variant | SNV |
chr8 | 18,062,422 | A | G | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | ASAH1 | 191,340 | Near Splice site (<= 5bp) | CDS | missense_variant | SNV |
chr8 | 18,069,785 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 12 | ASAH1 | 197,388 | Far from Splice site (> 5bp) | splice_site | splice_region_variant | SNV |
chr8 | 18,069,818 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 11 | ASAH1 | 197,389 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr8 | 18,061,425 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 11 | ASAH1 | 259,283 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr8 | 18,061,477 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 6 | ASAH1 | 259,282 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,064,412 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | ASAH1 | 259,281 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,067,340 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | ASAH1 | 259,280 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,071,253 | T | TATA | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 259,279 | Far from Splice site (> 5bp) | intron | intron_variant | insertion |
chr8 | 18,071,302 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 11 | ASAH1 | 259,278 | Near Splice site (<= 5bp) | CDS | missense_variant | SNV |
chr8 | 18,071,411 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 5 | ASAH1 | 259,277 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,075,590 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 7 | ASAH1 | 259,275 | Near Splice site (<= 5bp) | splice_site | splice_region_variant | SNV |
chr8 | 18,075,637 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | ASAH1 | 259,276 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,056,839 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 362,358 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr8 | 18,056,847 | G | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 362,359 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr8 | 18,057,290 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | ASAH1 | 362,365 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr8 | 18,057,350 | A | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | ASAH1 | 362,367 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr8 | 18,057,374 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | ASAH1 | 362,371 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr8 | 18,057,410 | A | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | ASAH1 | 362,372 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr8 | 18,067,230 | A | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 8 | ASAH1 | 362,381 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr8 | 18,056,431 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 362,349 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr8 | 18,056,602 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 362,353 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr8 | 18,056,608 | T | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 362,354 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr8 | 18,057,200 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 362,364 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr8 | 18,056,461 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 362,350 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr8 | 18,056,796 | G | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 362,355 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr8 | 18,056,805 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 362,356 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr8 | 18,057,334 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | ASAH1 | 362,366 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr8 | 18,057,617 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 9 | ASAH1 | 362,373 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr8 | 18,064,504 | T | C | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 5 | ASAH1 | 375,548 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr8 | 18,073,263 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 6 | ASAH1 | 402,397 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,062,278 | C | G | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | ASAH1 | 505,533 | Near Splice site (<= 5bp) | splice_site | splice_donor_variant | SNV |
chr8 | 18,069,771 | G | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | ASAH1 | 558,958 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,059,385 | G | C | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 8 | ASAH1 | 585,439 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr8 | 18,075,540 | C | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 662,497 | Near Splice site (<= 5bp) | splice_site | splice_donor_variant | SNV |
chr8 | 18,063,298 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | ASAH1 | 678,180 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,073,225 | C | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 678,022 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,059,044 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 678,048 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,063,274 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 679,651 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,069,739 | A | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | ASAH1 | 678,029 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,063,271 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 679,652 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,073,218 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 678,023 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,058,715 | A | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | ASAH1 | 678,049 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,069,675 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | ASAH1 | 678,030 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,071,490 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | ASAH1 | 678,025 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,073,096 | A | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 678,024 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,061,723 | T | C | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | ASAH1 | 772,141 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr8 | 18,061,748 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | ASAH1 | 772,142 | Far from Splice site (> 5bp) | splice_site | splice_region_variant | SNV |
chr8 | 18,067,136 | G | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | ASAH1 | 802,392 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,071,244 | G | GAAATA | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 802,393 | Far from Splice site (> 5bp) | intron | intron_variant | insertion |
chr8 | 18,058,848 | G | C | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 812,498 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr8 | 18,059,385 | G | A | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 812,490 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr8 | 18,059,423 | T | C | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 812,494 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr8 | 18,059,603 | G | A | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | ASAH1 | 812,508 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr8 | 18,061,402 | T | C | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 812,478 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr8 | 18,064,502 | C | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 812,496 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr8 | 18,064,502 | CAT | C | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | ASAH1 | 812,471 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr8 | 18,058,834 | C | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 812,507 | Near Splice site (<= 5bp) | splice_site | splice_donor_variant | SNV |
chr8 | 18,064,453 | T | C | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 5 | ASAH1 | 812,501 | Near Splice site (<= 5bp) | splice_site | splice_region_variant | SNV |
chr8 | 18,084,056 | C | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | ASAH1 | 1,163,018 | Near Splice site (<= 5bp) | CDS | start_lost | SNV |
chr8 | 18,061,412 | C | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 1,168,615 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr8 | 18,064,301 | G | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 1,178,460 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,063,058 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | ASAH1 | 1,183,094 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,067,161 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 1,182,876 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,063,114 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | ASAH1 | 1,192,331 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,063,311 | A | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | ASAH1 | 1,192,332 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,059,322 | G | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | ASAH1 | 1,215,267 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,059,243 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 1,228,300 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,069,954 | T | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 1,228,312 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,069,623 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 1,237,055 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,061,522 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 1,238,063 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,071,227 | C | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 1,239,964 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,067,071 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 1,242,805 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,083,906 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 1,248,643 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,063,431 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 1,276,476 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,061,961 | A | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 1,276,624 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,075,736 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 1,292,391 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,064,645 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 1,292,915 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 18,071,202 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ASAH1 | 1,292,943 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr22 | 30,615,623 | G | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 10 | TCN2 | 97 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr22 | 30,611,036 | A | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | TCN2 | 341,190 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr22 | 30,617,317 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | TCN2 | 341,207 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr22 | 30,626,603 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | TCN2 | 341,217 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr22 | 30,614,422 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | TCN2 | 341,196 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr22 | 30,615,363 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 5 | TCN2 | 341,200 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr22 | 30,617,412 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | TCN2 | 341,210 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr22 | 30,623,057 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 7 | TCN2 | 341,215 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr22 | 30,626,550 | C | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | TCN2 | 341,216 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
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