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: 12-64849690-A-G Allele Count: 1   Sample Count: 2619   MAF: 1.909E-4   CADD Score: 6.035

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
TBK1 ENST00000331710 Att/Gtt I14V CCDS8968.1 missense benign(0.06) tolerated(0.73)
TBK1 ENST00000538890 Att/Gtt I14V - missense benign(0.06) tolerated(1)
TBK1 ENST00000540417 Att/Gtt I14V - missense benign(0.06) tolerated(1)
TBK1 ENST00000539810 - - - splice region - -
XPOT ENST00000332707 - - CCDS31852.1 downstream - -