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Consequential variants from upstream, downstream and out-of-frame ORFs
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Canonical variant | Varaint | Noncanonical consequence | Protein position | Amino acids | Codons | Consequnce type | ncORF overlapping canonical | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|---|
Intron | chr21:42260123 | missense_variant | 77 | A/V | gCg/gTg | Consequential_in_ncORF_only | Not_overlapping | 21 | 42259408 | 42271087 |
5'UTR | chr21:41376884 | missense_variant | 32 | Q/E | Cag/Gag | Consequential_in_ncORF_only | Not_overlapping | 21 | 41372955 | 41376892 |
Silent | chr21:41322942 | missense_variant | 30 | S/L | tCg/tTg | Consequential_in_ncORF_only | Overlapping | 21 | 41322854 | 41344516 |
Intron | chr21:41322883 | missense_variant | 10 | H/Q | caC/caA | Consequential_in_ncORF_only | Not_overlapping | 21 | 41322854 | 41344516 |
3'UTR | chr21:39929120 | frameshift_variant | 46 | T/X | aCc/ac | Consequential_in_ncORF_only | Not_overlapping | 21 | 39928984 | 39929130 |
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