package enriched
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Type Members
- case class CONSERVATIONS(phyloP17way_primate: Option[Double] = None, phyloP100way_vertebrate: Option[Double] = None) extends Product with Serializable
- case class COSMIC(tumour_types_germline: List[String] = ...) extends Product with Serializable
- case class DDD(disease_name: String = "OCULOAURICULAR SYNDROME") extends Product with Serializable
- case class EnrichedConsequences(chromosome: String = "1", start: Long = 69897, reference: String = "T", alternate: String = "C", ensembl_transcript_id: String = "ENST00000335137", ensembl_gene_id: String = "ENSG00000186092", vep_impact: String = "LOW", symbol: String = "OR4F5", ensembl_feature_id: String = "ENST00000335137", feature_type: String = "Transcript", strand: Int = 1, biotype: String = "protein_coding", exon: Exon = Exon(), intron: Intron = Intron(), hgvsc: String = "ENST00000335137.4:c.807T>C", hgvsp: String = "ENSP00000334393.3:p.Ser269=", cds_position: Int = 807, cdna_position: Int = 843, protein_position: Int = 269, amino_acids: AminoAcids = AminoAcids(), codons: CODONS = CODONS(), original_canonical: Boolean = true, refseq_mrna_id: Seq[String] = ..., refseq_protein_id: Option[String] = Some("NP_001005277"), aa_change: String = "p.Ser269=", coding_dna_change: String = "c.807T>C", impact_score: Int = 2, created_on: Timestamp = ..., updated_on: Timestamp = ..., normalized_consequences_oid: Timestamp = ..., consequence: Seq[String] = Seq("synonymous"), predictions: PREDICTIONS = PREDICTIONS(), conservations: CONSERVATIONS = CONSERVATIONS(), consequences_oid: Timestamp = ..., uniprot_id: Option[String] = Some("Q6IEY1"), mane_select: Boolean = true, mane_plus: Boolean = true, canonical: Boolean = true, picked: Option[Boolean] = Some(true)) extends Product with Serializable
- case class EnrichedDbnsfp(chromosome: String = "1", start: String = "69897", reference: String = "T", alternate: String = "C", aaref: Option[String] = None, symbol: String = "SLC35A3", ensembl_gene_id: String = "ENSG00000117620", ensembl_protein_id: String = "ENSP00000491146", VEP_canonical: String = ".", ensembl_transcript_id: String = "ENST00000450305", cds_strand: String = "+", SIFT_score: Option[Double] = None, SIFT_pred: Option[String] = None, SIFT_converted_rankscore: Option[Double] = None, Polyphen2_HDIV_score: Option[Double] = None, Polyphen2_HDIV_pred: Option[String] = None, Polyphen2_HDIV_rankscore: Option[Double] = None, Polyphen2_HVAR_score: Option[Double] = None, Polyphen2_HVAR_pred: Option[String] = None, Polyphen2_HVAR_rankscore: Option[Double] = None, FATHMM_score: Option[Double] = None, FATHMM_pred: Option[String] = None, FATHMM_converted_rankscore: Option[Double] = None, CADD_raw: Double = 5.734485, CADD_raw_rankscore: Double = 0.95178, CADD_phred: Double = 34.0, DANN_score: Double = 0.9947908619510818, DANN_rankscore: Double = 0.66795, REVEL_rankscore: Option[Double] = None, REVEL_score: Option[Double] = None, LRT_converted_rankscore: Option[Double] = None, LRT_pred: Option[String] = None, LRT_score: Option[Double] = None, phyloP100way_vertebrate: Double = 8.947, phyloP100way_vertebrate_rankscore: Double = 0.92735, phyloP30way_mammalian: Double = 1.312, phyloP30way_mammalian_rankscore: Double = 0.94714, phyloP17way_primate: Double = 0.756, phyloP17way_primate_rankscore: Double = 0.94297, phastCons100way_vertebrate: Double = 1.0, phastCons100way_vertebrate_rankscore: Double = 0.71638, phastcons30way_mammalian: Double = 0.998, phastCons30way_mammalian_rankscore: Double = 0.65909, phastCons17way_primate: Double = 0.986, phastCons17way_primate_rankscore: Double = 0.61781, GERP++_NR: Double = 4.76, GERP++_RS: Double = 4.76, GERP++_RS_rankscore: Double = 0.60189, MutPred_rankscore: Option[Double] = None, MutPred_score: Option[Double] = None, MutationAssessor_pred: Option[String] = None, MutationAssessor_score: Option[Double] = None, MutationAssessor_rankscore: Option[Double] = None, MutationTaster_converted_rankscore: Double = 0.81001, PROVEAN_pred: Option[String] = None, PROVEAN_score: Option[Double] = None, PROVEAN_converted_rankscore: Option[Double] = None, VEST4_score: Option[Double] = None, VEST4_rankscore: Option[Double] = None, MetaSVM_pred: Option[String] = None, MetaSVM_rankscore: Option[Double] = None, MetaSVM_score: Option[Double] = None, MetaLR_pred: Option[String] = None, MetaLR_rankscore: Option[Double] = None, MetaLR_score: Option[Double] = None, M-CAP_pred: Option[String] = None, M-CAP_score: Option[Double] = None, M-CAP_rankscore: Option[Double] = None, MPC_score: Option[Double] = None, MPC_rankscore: Option[Double] = None, MVP_score: Option[Double] = None, MVP_rankscore: Option[Double] = None, PrimateAI_pred: Option[String] = None, PrimateAI_rankscore: Option[Double] = None, PrimateAI_score: Option[Double] = None, DEOGEN2_pred: Option[String] = None, DEOGEN2_score: Option[Double] = None, DEOGEN2_rankscore: Option[Double] = None, BayesDel_addAF_pred: String = "D", BayesDel_addAF_rankscore: Double = 0.99412, BayesDel_addAF_score: Double = 0.625005, BayesDel_noAF_pred: String = "D", BayesDel_noAF_rankscore: Double = 0.99401, BayesDel_noAF_score: Double = 0.66, ClinPred_pred: Option[String] = None, ClinPred_rankscore: Option[Double] = None, ClinPred_score: Option[Double] = None, LIST-S2_pred: Option[String] = None, LIST-S2_score: Option[Double] = None, LIST-S2_rankscore: Option[Double] = None, fathmm-MKL_coding_pred: String = "D", fathmm-MKL_coding_rankscore: Double = 0.99037, fathmm-MKL_coding_score: Double = 0.99731, fathmm-MKL_coding_group: String = "AEFBI", fathmm-XF_coding_pred: Option[String] = None, fathmm-XF_coding_rankscore: Option[Double] = None, fathmm-XF_coding_score: Option[Double] = None, Eigen-PC-phred_coding: Double = 14.34762, Eigen-PC-raw_coding: Double = 0.913652959600594, Eigen-PC-raw_coding_rankscore: Double = 0.9614, Eigen-phred_coding: Double = 16.85858, Eigen-raw_coding: Double = 1.08438139196827, Eigen-raw_coding_rankscore: Double = 0.97834, GenoCanyon_rankscore: Double = 0.4628, GenoCanyon_score: Double = 0.999922961798521, integrated_confidence_value: Double = 0.0, integrated_fitCons_rankscore: Double = 0.02776, integrated_fitCons_score: Double = 0.106106, GM12878_confidence_value: Double = 0.0, GM12878_fitCons_rankscore: Double = 0.03286, GM12878_fitCons_score: Double = 0.105846, H1-hESC_confidence_value: Double = 0.0, H1-hESC_fitCons_rankscore: Double = 0.0272, H1-hESC_fitCons_score: Double = 0.083675, HUVEC_confidence_value: Double = 0.0, HUVEC_fitCons_rankscore: Double = 0.03346, HUVEC_fitCons_score: Double = 0.109871, LINSIGHT: Double = 0.863041, LINSIGHT_rankscore: Double = 0.53035, bStatistic: Double = 820.0, bStatistic_converted_rankscore: Double = 0.40914, Interpro_domain: String = ".", GTEx_V8_gene: Option[List[String]] = None, GTEx_V8_tissue: Option[List[String]] = None) extends Product with Serializable
- case class EnrichedGenes(symbol: String = "OR4F5", entrez_gene_id: Int = 777, omim_gene_id: String = "601013", hgnc: String = "HGNC:1392", ensembl_gene_id: String = "ENSG00000198216", location: String = "1q25.3", name: String = ..., alias: List[String] = ..., biotype: String = "protein_coding", orphanet: List[ORPHANET] = List(ORPHANET()), hpo: List[HPO] = List(HPO()), omim: List[OMIM] = List(OMIM()), chromosome: String = "1", ddd: List[DDD] = List(DDD()), cosmic: List[COSMIC] = List(COSMIC()), gnomad: Option[GNOMAD] = Some(GNOMAD())) extends Product with Serializable
- case class EnrichedRareVariantInput(chromosome: String = "1", start: Long = 210862942, reference: String = "GGCA", alternate: String = "G", af: Double = 1.0) extends Product with Serializable
- case class EnrichedRareVariantOutput(chromosome: String = "1", start: Long = 210862942, reference: String = "GGCA", alternate: String = "G", af: Double = 1.0, is_rare: Boolean = false) extends Product with Serializable
- case class EnrichedSpliceAi(chromosome: String = "1", start: Long = 210862942, end: Long = 210862946, reference: String = "GGCA", alternate: String = "G", allele: String = "G", symbol: String = "KCNH1", ds_ag: Double = 0.0, ds_al: Double = 0.0, ds_dg: Double = 0.0, ds_dl: Double = 0.0, dp_ag: Int = -3, dp_al: Int = 36, dp_dg: Int = 32, dp_dl: Int = 22, max_score: MAX_SCORE = MAX_SCORE()) extends Product with Serializable
- case class EnrichedVariant(chromosome: String = "1", start: Long = 69897, end: Long = 69898, reference: String = "T", alternate: String = "C", locus: String = "1-69897-T-C", hash: String = ..., hgvsg: String = "chr1:g.69897T>C", variant_class: String = "SNV", assembly_version: String = "GRCh38", frequency: GlobalFrequency = ..., external_frequencies: FREQUENCIES = FREQUENCIES(), clinvar: CLINVAR = CLINVAR(), rsnumber: String = "rs200676709", dna_change: String = "T>C", genes: List[GENES] = List(GENES()), cmc: CMC = CMC(), variant_external_reference: List[String] = List("DBSNP", "Clinvar", "Cosmic"), gene_external_reference: List[String] = ...) extends Product with Serializable
- case class GNOMAD(pli: Float = 1.0f, loeuf: Float = 0.054f) extends Product with Serializable
- case class HPO(hpo_term_id: String = "HP:0001347", hpo_term_name: String = "Hyperreflexia", hpo_term_label: String = "Hyperreflexia (HP:0001347)") extends Product with Serializable
- case class MAX_SCORE(ds: Double = 0.0, type: Seq[String] = Seq("AG", "AL", "DG", "DL")) extends Product with Serializable
- case class OMIM(name: String = ..., omim_id: String = "618285", inheritance: List[String] = List("Autosomal dominant"), inheritance_code: List[String] = List("AD")) extends Product with Serializable
- case class ORPHANET(disorder_id: Long = 17827, panel: String = ..., inheritance: List[String] = List("Autosomal recessive")) extends Product with Serializable
- case class PREDICTIONS(sift_score: Option[Double] = None, sift_pred: Option[String] = None, polyphen2_hvar_score: Option[Double] = None, polyphen2_hvar_pred: Option[String] = None, fathmm_score: Option[Double] = None, fathmm_pred: Option[String] = None, cadd_score: Option[Double] = None, cadd_phred: Option[Double] = None, dann_score: Option[Double] = None, revel_score: Option[Double] = None, lrt_score: Option[Double] = None, lrt_pred: Option[String] = None) extends Product with Serializable
Value Members
- object EnrichedVariant extends Serializable