Sample Source	.tsv	.vcf
non-SSC Samples	denovo-db.non-ssc-samples.variants.v.1.6.1.tsv.gz	denovo-db.non-ssc-samples.variants.v.1.6.1.vcf.gz
SSC* Samples	denovo-db.ssc-samples.variants.v.1.6.1.tsv.gz	denovo-db.ssc-samples.variants.v.1.6.1.vcf.gz

*: The use of Simons Simplex Collection (SSC) and Simons VIP data sets is limited to projects related to advancing the field of autism and related developmental disorder research. Questions on SSC/VIP consents should be directed to collections@sfari.org.

Field	Description
SampleID	If some type of sample identifier is given in the study we use that exactly. If there is no sample identifier we use the name of the study and start numbering such that every variant has a unique sample identifier.
SSC* Sample	The use of Simons Simplex Collection (SSC) and Simons VIP data sets is limited to projects related to advancing the field of autism and related developmental disorder research. Questions on SSC/VIP consents should be directed to collections@sfari.org.
StudyName	This is the name of the study.
PubmedID	Pubmed ID for the study publication.
NumProbands	The total number of probands involved in the study.
NumControls	The total number of controls involved in the study.
SequenceType	The sequence type used in the study.
PrimaryPhenotype	The primary phenotype is the main phenotype of the patient for inclusion in the study.
Validation	The validation status describes the result of some orthogonal validation method (for example Sanger sequencing). The values are either yes or unknown meaning either valid or not known, respectively. Any variants that are not valid are removed early in the pipeline and are not represented in denovo-db.
Chr	Chromosome
Position	Genomic position in hg19.
Variant	Reference allele > alternate allele.
rsID	dbSNP rs identifier of the variant. If there is not an rsID this field is 0.
DbsnpBuild	dbSNP build that the variant was found in.
AncestralAllele	Ancestral allele of the position.
1000GenomeCount	Count of the variant in 1000 genomes.
ExacFreq	Frequency of the variant in the ExAC database.
EspAaFreq	Frequency of the variant in African American samples in ESP database.
EspEaFreq	Frequency of the variant in European American samples in ESP database.
Transcript	Transcript that the variant resides on.
codingDnaSize	Coding DNA size of the transcript.
Gene	Gene name.
FunctionClass	The functional classification of the variant.
cDnaVariant	cDNA representation of the variant.
ProteinVariant	Protein representation of the variant.
Exon/Intron	Exon or intron location of the variant if available.
PolyPhen(HDiv)	HDiv score of variant from PolyPhen.
PolyPhen(HVar)	HVar score of variant from PolyPhen.
SiftScore	SIFT score of the variant.
CaddScore	CADD score of the variant
LofScore	Lof score of the variant calculated using dbNSFP. (reference)
LrtScore	Lrt score of the variant. (reference)
muPIT	muPIT is an interactive browser-based application that maps single-nucleotide variants to available three-dimensional protein structures.