Data Browser v2

Examples - Gene: TBK1, Region: 21:33032075-33040899, Variant: 14-21162090-G-A


Note This screen lists all Ensembl-based annotations for the selected variant. This includes annotations with overlapping genes.

Variant: 21-33036178-G-A Allele Count: 1   Sample Count: 2637   MAF: 1.896E-4   CADD Score: 22.9

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
SNORA81 ENST00000458922 - - - upstream - -
AP000253.1 ENST00000449339 - - - upstream - -
SOD1 ENST00000270142 Gag/Aag E50K CCDS33536.1 missense benign(0.094) deleterious(0.01)
SOD1 ENST00000389995 Gag/Aag E31K - missense possibly_damaging(0.461) deleterious(0.01)
SOD1 ENST00000470944 - - - noncoding exon - -
SOD1 ENST00000476106 - - - noncoding exon - -