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: 21-33039686-G-C Allele Count: 1   Sample Count: 2631   MAF: 1.9E-4   CADD Score: 28.7

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
SNORA81 ENST00000458922 - - - downstream - -
SCAF4 ENST00000286835 - - CCDS33537.1 downstream - -
SCAF4 ENST00000399804 - - CCDS46644.1 downstream - -
SCAF4 ENST00000434667 - - CCDS54482.1 downstream - -
SOD1 ENST00000270142 Gtg/Ctg V119L CCDS33536.1 missense; splice region probably_damaging(0.998) deleterious(0)
SOD1 ENST00000389995 Gtg/Ctg V100L - missense; splice region possibly_damaging(0.872) deleterious(0)
SOD1 ENST00000470944 - - - splice region - -
SOD1 ENST00000476106 - - - downstream - -