Association Type
equal
not equal
contains
does not contain
Select
Biomarker
AlteredExpression
GeneticVariation
CausalMutation
GermlineCausalMutation
PosttranslationalModification
Therapeutic
SusceptibilityMutation
ModifyingMutation
Association
NoAssociation
SomaticCausalMutation
GermlineModifyingMutation
GenomicAlterations
FusionGene
ChromosomalRearrangement
Semantic type
equal
not equal
contains
does not contain
Disabled
Protein Class
equal
not equal
contains
does not contain
is empty
is not empty
Disabled
Disease Class
equal
not equal
contains
does not contain
is empty
is not empty
Disabled
Type
equal
not equal
Disabled
Original DB
equal
not equal
Select
CLINVAR
GWASCAT
UNIPROT
Consequence
equal
not equal
contains
does not contain
is empty
is not empty
Select
intron variant
intergenic variant
regulatory region variant
stop gained
missense variant
non coding transcript exon variant
synonymous variant
5 prime UTR variant
splice donor variant
3 prime UTR variant
mature miRNA variant
frameshift variant
splice acceptor variant
TF binding site variant
splice region variant
start lost
stop lost
inframe deletion
protein altering variant
inframe insertion
coding sequence variant
stop retained variant
upstream gene variant
downstream gene variant
start retained variant