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 | 124,398,012 | G | A | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 7 | OAT | 157 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr10 | 124,400,865 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 10 | OAT | 161 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr10 | 124,403,847 | G | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 7 | OAT | 168 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr10 | 124,400,941 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | OAT | 170 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr10 | 124,398,061 | C | A | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | OAT | 173 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr10 | 124,405,457 | A | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 5 | OAT | 175 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr10 | 124,397,986 | G | A | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 6 | OAT | 177 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr10 | 124,397,955 | A | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | OAT | 56,115 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr10 | 124,405,546 | TACCCC | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | OAT | 56,130 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr10 | 124,405,542 | G | A | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | OAT | 56,131 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr10 | 124,403,859 | C | T | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | OAT | 56,134 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr10 | 124,403,821 | G | A | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | OAT | 56,135 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr10 | 124,401,787 | TC | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | OAT | 56,139 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr10 | 124,405,422 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 8 | OAT | 167,396 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 124,408,975 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | OAT | 299,172 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 124,397,407 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | OAT | 299,162 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr10 | 124,397,757 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | OAT | 299,166 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr10 | 124,403,056 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 5 | OAT | 444,240 | Near Splice site (<= 5bp) | splice_site | splice_acceptor_variant | SNV |
chr10 | 124,398,070 | G | A | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 5 | OAT | 456,519 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr10 | 124,411,956 | A | ATTAATT | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | OAT | 556,600 | Far from Splice site (> 5bp) | intron | intron_variant | insertion |
chr10 | 124,403,369 | C | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | OAT | 684,343 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 124,401,087 | T | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | OAT | 683,256 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 124,401,993 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | OAT | 672,113 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 124,398,161 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | OAT | 683,257 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 124,401,861 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | OAT | 672,118 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 124,401,896 | T | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | OAT | 672,117 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 124,401,134 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | OAT | 683,255 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 124,412,281 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | OAT | 683,242 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 124,401,725 | C | T | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | OAT | 866,435 | Near Splice site (<= 5bp) | splice_site | splice_donor_variant | SNV |
chr10 | 124,412,074 | G | GT | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | OAT | 945,586 | Far from Splice site (> 5bp) | CDS | frameshift_variant | insertion |
chr10 | 124,405,435 | C | T | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | OAT | 942,676 | Near Splice site (<= 5bp) | splice_site | splice_donor_variant | SNV |
chr10 | 124,403,046 | TA | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | OAT | 1,072,300 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr10 | 124,411,954 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 6 | OAT | 1,169,204 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 124,403,196 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | OAT | 1,263,257 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 124,400,706 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | OAT | 1,261,209 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 124,409,147 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | OAT | 1,264,570 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 124,405,290 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | OAT | 1,271,486 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 124,403,245 | A | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | OAT | 1,277,541 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 124,400,725 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | OAT | 1,279,117 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 124,408,515 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | OAT | 1,282,781 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 124,403,571 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | OAT | 1,285,775 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 124,403,233 | G | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | OAT | 1,288,196 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 124,403,050 | GA | G | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | OAT | 1,455,908 | Near Splice site (<= 5bp) | CDS | frameshift_variant | deletion |
chr10 | 124,401,773 | AT | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | OAT | 1,393,786 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr10 | 124,408,545 | CAA | C | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | OAT | 1,393,887 | Near Splice site (<= 5bp) | CDS | frameshift_variant | deletion |
chr10 | 124,402,930 | G | GT | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | OAT | 1,451,166 | Near Splice site (<= 5bp) | CDS | frameshift_variant | insertion |
chr10 | 124,403,031 | G | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | OAT | 1,452,949 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr10 | 124,411,973 | CT | C | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | OAT | 1,457,141 | Near Splice site (<= 5bp) | CDS | frameshift_variant | deletion |
chr10 | 124,412,020 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | OAT | 2,136,938 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr10 | 124,411,982 | TCTCCAGGG | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | OAT | 2,047,188 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr10 | 124,400,886 | T | TA | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | OAT | 2,430,383 | Far from Splice site (> 5bp) | CDS | frameshift_variant | insertion |
chr8 | 104,427,994 | A | G | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | DPYS | 186 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr8 | 104,427,971 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | DPYS | 100,137 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 104,428,010 | A | G | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | DPYS | 100,138 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr8 | 104,428,043 | G | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | DPYS | 100,139 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr8 | 104,444,276 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | DPYS | 100,141 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr8 | 104,447,386 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | DPYS | 100,142 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr8 | 104,466,705 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | DPYS | 100,148 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr8 | 104,466,906 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | DPYS | 100,150 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr8 | 104,466,921 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | DPYS | 100,151 | Near Splice site (<= 5bp) | 5UTR | 5_prime_UTR_variant | SNV |
chr8 | 104,447,504 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | DPYS | 284,276 | Near Splice site (<= 5bp) | splice_site | splice_acceptor_variant | SNV |
chr8 | 104,444,238 | C | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | DPYS | 361,451 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr8 | 104,392,877 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | DPYS | 361,448 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr8 | 104,444,369 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | DPYS | 361,452 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr8 | 104,424,345 | G | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 7 | DPYS | 372,797 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr8 | 104,447,399 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | DPYS | 788,274 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr8 | 104,392,834 | G | A | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | DPYS | 863,103 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr8 | 104,447,359 | G | A | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | DPYS | 1,360,900 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr8 | 104,466,819 | TG | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | DPYS | 1,364,435 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr5 | 172,422,445 | G | A | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | SH3PXD2B | 190 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr5 | 172,346,269 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | SH3PXD2B | 194,011 | Far from Splice site (> 5bp) | splice_site | splice_region_variant | SNV |
chr5 | 172,346,270 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | SH3PXD2B | 194,012 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr5 | 172,347,268 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 6 | SH3PXD2B | 257,057 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr5 | 172,350,532 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | SH3PXD2B | 257,059 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr5 | 172,358,888 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 5 | SH3PXD2B | 257,058 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr5 | 172,422,467 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 5 | SH3PXD2B | 257,056 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr5 | 172,338,628 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 5 | SH3PXD2B | 352,801 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr5 | 172,339,122 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | SH3PXD2B | 352,805 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr5 | 172,339,821 | C | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | SH3PXD2B | 352,813 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr5 | 172,362,867 | C | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | SH3PXD2B | 352,825 | Near Splice site (<= 5bp) | CDS | missense_variant | SNV |
chr5 | 172,373,776 | G | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | SH3PXD2B | 352,826 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr5 | 172,339,467 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | SH3PXD2B | 352,808 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr5 | 172,339,562 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 5 | SH3PXD2B | 352,810 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr5 | 172,350,491 | G | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 6 | SH3PXD2B | 352,820 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr5 | 172,362,775 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 5 | SH3PXD2B | 352,822 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr5 | 172,406,273 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | SH3PXD2B | 352,827 | Near Splice site (<= 5bp) | splice_site | splice_region_variant | SNV |
chr5 | 172,338,355 | A | G | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | SH3PXD2B | 352,799 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr5 | 172,339,393 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 6 | SH3PXD2B | 352,807 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr5 | 172,454,408 | G | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | SH3PXD2B | 352,831 | Far from Splice site (> 5bp) | 5UTR | 5_prime_UTR_variant | SNV |
chr5 | 172,454,419 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | SH3PXD2B | 352,832 | Far from Splice site (> 5bp) | 5UTR | 5_prime_UTR_variant | SNV |
chr5 | 172,454,431 | G | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | SH3PXD2B | 352,833 | Far from Splice site (> 5bp) | 5UTR | 5_prime_UTR_variant | SNV |
chr5 | 172,339,772 | T | C | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 5 | SH3PXD2B | 792,021 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr5 | 172,339,433 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | SH3PXD2B | 903,916 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr5 | 172,350,389 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 5 | SH3PXD2B | 903,986 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr5 | 172,347,359 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | SH3PXD2B | 1,244,919 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr4 | 42,893,291 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 6 | GRXCR1 | 43,887 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr4 | 42,963,142 | A | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 9 | GRXCR1 | 43,888 | Far from Splice site (> 5bp) | splice_site | splice_region_variant | SNV |
chr4 | 43,030,444 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 6 | GRXCR1 | 43,889 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr4 | 43,030,420 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | GRXCR1 | 287,166 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr4 | 43,030,595 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | GRXCR1 | 348,826 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
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