owencqueen/cgbench_data huggingface dataset:
Gene: CDKL5 (HGNC:11411)
Evidence Code: PP3 — Supporting
Modification Type: None
For missense variants use REVEL with a score ≥ 0.75.


For splice site variants use MaxEntScan, NNSPLICE and SpliceSiteFinder-like when all of the prediction programs support significant splicing alteration (significant splicing alterations defined as ≥15% decrease to the natural splice site and ≥70% gain in prediction strength of cryptic splice site).
Gene: CDKL5 (HGNC:11411)
Evidence Code: BP4 — Supporting
Modification Type: None
For missense variants use REVEL with a score ≤ 0.15.


For splice site variants use MaxEntScan, NNSPLICE and SpliceSiteFinder-like when the majority of the prediction programs do not support significant splicing alteration (significant splicing alterations defined as ≥15% decrease to the natural splice site and ≥70% gain in prediction strength of a cryptic splice site).
Gene: FOXG1 (HGNC:3811)
Evidence Code: PP3 — Supporting
Modification Type: None
For missense variants use REVEL with a score ≥ 0.75.


For splice site variants use MaxEntScan, NNSPLICE and SpliceSiteFinder-like when all of the prediction programs support significant splicing alteration (significant splicing alterations defined as ≥15% decrease to the natural splice site and ≥70% gain in prediction strength of cryptic splice site).
Gene: FOXG1 (HGNC:3811)
Evidence Code: BP4 — Supporting
Modification Type: None
For missense variants use REVEL with a score ≤ 0.15.


For splice site variants use MaxEntScan, NNSPLICE and SpliceSiteFinder-like when the majority of the prediction programs do not support significant splicing alteration (significant splicing alterations defined as ≥15% decrease to the natural splice site and ≥70% gain in prediction strength of a cryptic splice site).
Gene: MECP2 (HGNC:6990)
Evidence Code: PP3 — Supporting
Modification Type: None
For missense variants use REVEL with a score ≥ 0.75.


For splice site variants use MaxEntScan, NNSPLICE and SpliceSiteFinder-like when all of the prediction programs support significant splicing alteration (significant splicing alterations defined as ≥15% decrease to the natural splice site and ≥70% gain in prediction strength of cryptic splice site).
Gene: MECP2 (HGNC:6990)
Evidence Code: BP4 — Supporting
Modification Type: None
For missense variants use REVEL with a score ≤ 0.15.


For splice site variants use MaxEntScan, NNSPLICE and SpliceSiteFinder-like when the majority of the prediction programs do not support significant splicing alteration (significant splicing alterations defined as ≥15% decrease to the natural splice site and ≥70% gain in prediction strength of a cryptic splice site).
Gene: SLC9A6 (HGNC:11079)
Evidence Code: PP3 — Supporting
Modification Type: None
For missense variants use REVEL with a score ≥ 0.75.


For splice site variants use MaxEntScan, NNSPLICE and SpliceSiteFinder-like when all of the prediction programs support significant splicing alteration (significant splicing alterations defined as ≥15% decrease to the natural splice site and ≥70% gain in prediction strength of cryptic splice site).
Gene: SLC9A6 (HGNC:11079)
Evidence Code: BP4 — Supporting
Modification Type: None
For missense variants use REVEL with a score ≤ 0.15.


For splice site variants use MaxEntScan, NNSPLICE and SpliceSiteFinder-like when the majority of the prediction programs do not support significant splicing alteration (significant splicing alterations defined as ≥15% decrease to the natural splice site and ≥70% gain in prediction strength of a cryptic splice site).
Gene: TCF4 (HGNC:11634)
Evidence Code: PP3 — Supporting
Modification Type: None
For missense variants use REVEL with a score ≥ 0.75.


For splice site variants use MaxEntScan, NNSPLICE and SpliceSiteFinder-like when all of the prediction programs support significant splicing alteration (significant splicing alterations defined as ≥15% decrease to the natural splice site and ≥70% gain in prediction strength of cryptic splice site).