package normalized
Type Members
- case class AminoAcids(reference: String = "S", variant: Option[String] = None) extends Product with Serializable
- case class CODONS(reference: String = "tcT", variant: String = "tcC") extends Product with Serializable
- case class ENTREZ(id: String = "81399", database: String = "EntrezGene") extends Product with Serializable
- case class Exon(rank: String = "1", total: Int = 1) extends Product with Serializable
- case class Intron(rank: Option[String] = None, total: Option[Int] = None) extends Product with Serializable
- case class NormalizedAnnovarScores(chromosome: String = "2", start: Long = 69091, end: Long = 69091, reference: String = "A", alternate: String = "C", DamagePredCount: Double = 1.17, SIFT_pred: String = "T", SIFT4G_pred: String = "T", Polyphen2_HDIV_pred: String = "B", Polyphen2_HVAR_pred: String = "B", LRT_pred: String = "N", MutationTaster_pred: Option[String] = None, MutationAssessor_pred: Option[String] = None, FATHMM_pred: String = "T", PROVEAN_pred: String = "N", VEST4_score: Double = 0.198, MetaSVM_pred: String = "T", MetaLR_pred: String = "T", M-CAP_pred: String = "T", REVEL_score: Double = 0.109, MutPred_score: Double = 0.823, MVP_score: Option[Double] = None, MPC_score: Option[Double] = None, PrimateAI_pred: Option[String] = None, DEOGEN2_pred: String = "T", BayesDel_addAF_pred: String = "T", BayesDel_noAF_pred: String = "T", ClinPred_pred: String = "T", LIST-S2_pred: String = "D", CADD_raw: String = "-0.145", CADD_phred: String = "0.670", DANN_score: Double = 0.444, fathmm-MKL_coding_pred: String = "N", fathmm-XF_coding_pred: String = "N", Eigen-raw_coding: String = "-1.394", Eigen-phred_coding: String = "0.119", Eigen-PC-raw_coding: String = "-1.536", Eigen-PC-phred_coding: String = "0.095", GenoCanyon_score: Double = 0.0, integrated_fitCons_score: Double = 0.487, GM12878_fitCons_score: Double = 0.574, H1-hESC_fitCons_score: Double = 0.574, HUVEC_fitCons_score: Double = 0.564, LINSIGHT: Option[String] = None, GERP++_NR: Double = 2.31, GERP++_RS: Double = -4.63, phyloP100way_vertebrate: Double = -0.055, phyloP30way_mammalian: Double = -0.214, phyloP17way_primate: Double = -2.209, phastCons100way_vertebrate: Double = 0.0, phastCons30way_mammalian: Double = 0.105, phastCons17way_primate: Double = 0.0, bStatistic: Double = 994.0, Interpro_domain: Option[String] = None, GTEx_V8_gene: Option[List[String]] = None, GTEx_V8_tissue: Option[List[String]] = None) extends Product with Serializable
- case class NormalizedClinvar(chromosome: String = "2", start: Long = 69359261, end: Long = 69359262, reference: String = "T", alternate: String = "A", interpretations: List[String] = List("Benign"), name: String = "257668", clin_sig: List[String] = List("Benign"), clin_sig_conflict: List[String] = List(""), af_exac: Double = 0.00394, clnvcso: String = "SO:0001483", geneinfo: String = "GFPT1:2673", clnsigincl: Option[List[String]] = None, clnvi: List[String] = ..., clndisdb: List[String] = ..., clnrevstat: List[String] = ..., alleleid: Int = 250763, origin: List[String] = List("1"), ssr: Option[Int] = None, clndnincl: List[String] = List(""), rs: List[String] = List("112682152"), dbvarid: Option[List[String]] = None, af_tgp: Double = 0.01118, clnvc: String = "single_nucleotide_variant", clnhgvs: List[String] = List("NC_000002.12:g.69359261T>A"), mc: List[String] = ..., af_esp: Double = 0.01415, clndisdbincl: List[String] = List(""), conditions: List[String] = ..., inheritance: List[String] = List("germline")) extends Product with Serializable
- case class NormalizedConsequences(chromosome: String = "1", start: Long = 69897, end: Long = 69898, reference: String = "T", alternate: String = "C", name: String = "rs200676709", consequences: List[String] = List("synonymous_variant"), impact: String = "LOW", symbol: String = "OR4F5", ensembl_gene_id: String = "ENSG00000186092", ensembl_feature_id: String = "ENST00000335137", ensembl_transcript_id: String = "ENST00000335137", ensembl_regulatory_id: Option[String] = None, feature_type: String = "Transcript", strand: Int = 1, biotype: String = "protein_coding", variant_class: String = "SNV", exon: Exon = Exon(), intron: Intron = Intron(), hgvsc: String = "ENST00000335137.4:c.807T>C", hgvsp: String = "ENSP00000334393.3:p.Ser269=", hgvsg: String = "chr1:g.69897T>C", 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: List[String] = ..., 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 = ...) extends Product with Serializable
- case class NormalizedCosmicGeneSet(chromosome: String = "10", start: Long = 43077027, symbol: String = "RET", name: String = "ret proto-oncogene", cosmic_gene_id: String = "COSG68325", tier: Int = 1, chr_band: String = "11.21", somatic: Boolean = true, germline: Boolean = true, tumour_types_somatic: Seq[String] = ..., tumour_types_germline: Seq[String] = ..., cancer_syndrome: String = ..., tissue_type: Seq[String] = Seq("E", "O"), molecular_genetics: String = "Dom", role_in_cancer: Seq[String] = Seq("oncogene", "fusion"), mutation_types: Seq[String] = Seq("T", "Mis", "N", "F"), translocation_partner: Seq[String] = ..., other_germline_mutation: Boolean = true, other_syndrome: Seq[String] = Seq("Hirschsprung disease"), synonyms: Seq[String] = ...) extends Product with Serializable
- case class NormalizedCosmicMutationSet(chromosome: String = "2", start: Long = 197402110, end: Long = 197402110, reference: String = "T", alternate: String = "C", mutation_url: String = ..., shared_aa: Int = 9, genomic_mutation_id: String = "COSV59205318", cosmic_sample_mutated: Int = 699, cosmic_sample_tested: Int = 86821, dnds_disease_qval_sig: Seq[String] = Seq("breast=4.73e-24"), mutation_significance_tier: String = "2", onc_tsg: Seq[String] = Seq("oncogene"), cgc_tier: Int = 1, gene_name: String = "SF3B1", accession_number: String = "ENST00000335508.6", legacy_mutation_id: String = "COSM84677", mutation_cds: String = "c.2098A>G", mutation_aa: String = "p.K700E", disease: Seq[String] = ..., wgs_disease: Seq[String] = ..., aa_mut_start: Int = 700, aa_mut_stop: Int = 700, aa_wt_allele_seq: String = "K", aa_mut_allele_seq: String = "E", mutation_description_cds: String = "Substitution", mutation_description_aa: String = "Substitution - Missense", ontology_mutation_code: String = "SO:0001583") extends Product with Serializable
- case class NormalizedDbsnp(chromosome: String = "1", start: Long = 69897, end: Long = 69898, reference: String = "T", alternate: String = "C", name: String = "rs200676709", original_contig_name: String = "NC_000001.11") extends Product with Serializable
- case class NormalizedDddGeneCensus(symbol: String = "HMX1", omim_gene_id: String = "142992", disease_name: String = "OCULOAURICULAR SYNDROME", disease_omim_id: String = "612109", confidence_category: String = "probable", mutation_consequence: String = "loss of function", variant_consequence: List[String] = ..., phenotypes: List[String] = ..., organ_specificity: List[String] = List("Eye", "Ear"), panel: String = "DD", hgnc_id: String = "5017") extends Product with Serializable
- case class NormalizedEnsemblMapping(ensembl_gene_id: String = "ENSG00000284662", ensembl_transcript_id: String = "ENST00000332831", tags: List[String] = ..., refseq: List[REFSEQ] = ..., entrez: List[ENTREZ] = List(ENTREZ()), uniprot: List[UNIPROT] = List(UNIPROT()), species: String = "Homo_sapiens", tax_id: String = "9606", primary_accessions: List[String] = List("chr1", "CM000663"), secondary_accessions: List[String] = List("ALI87340"), is_canonical: Boolean = true, is_mane_select: Boolean = true, is_mane_plus: Boolean = true, refseq_mrna_id: String = "NM_001005277", refseq_protein_id: String = "NP_001005277", genome_build: String = "GRCh38", ensembl_release_id: Int = 104) extends Product with Serializable
- case class NormalizedGnomadConstraint(chromosome: String = "19", start: Long = 47567444, end: Long = 47617009, symbol: String = "ZC3H4", transcript: String = "ENST00000253048", obs_mis: Int = 746, exp_mis: Float = 798.16f, oe_mis: Float = 0.93465f, mu_mis: Float = 5.4158E-5f, possible_mis: Long = 8378, obs_mis_pphen: Int = 95, exp_mis_pphen: Float = 115.73f, oe_mis_pphen: Float = 0.8209f, possible_mis_pphen: Long = 1145, obs_syn: Int = 446, exp_syn: Float = 343.01f, oe_syn: Float = 1.3002f, mu_syn: Float = 2.5301E-5f, possible_syn: Long = 2661, obs_lof: Int = 0, mu_lof: Float = 3.7692E-6f, possible_lof: Int = 543, exp_lof: Float = 54.645f, pLI: Float = 1.0f, pNull: Double = 1.8815E-22, pRec: Double = 2.3777E-9, oe_lof: Float = 0.0f, oe_syn_lower: Float = 1.202f, oe_syn_upper: Float = 1.406f, oe_mis_lower: Float = 0.879f, oe_mis_upper: Float = 0.993f, oe_lof_lower: Float = 0.0f, oe_lof_upper: Float = 0.054f, constraint_flag: String = "syn_outlier", syn_z: Float = -4.3711f, mis_z: Float = 0.65604f, lof_z: Float = 6.8501f, oe_lof_upper_rank: Int = 22, oe_lof_upper_bin: Int = 0, oe_lof_upper_bin_6: Int = 0, n_sites: Int = 10, classic_caf: Float = 4.704E-5f, max_af: Float = 9.8703E-6f, no_lofs: Long = 124783, obs_het_lof: Int = 7, obs_hom_lof: Int = 0, defined: Long = 124790, p: Float = 2.8048E-5f, exp_hom_lof: Float = 9.8168E-5f, classic_caf_afr: Float = 8.5353E-5f, classic_caf_amr: Float = 3.4858E-5f, classic_caf_asj: Float = 0.0f, classic_caf_eas: Float = 0.0f, classic_caf_fin: Float = 0.0f, classic_caf_nfe: Float = 6.3937E-5f, classic_caf_oth: Float = 0.0f, classic_caf_sas: Float = 6.61E-5f, p_afr: Float = 6.456E-5f, p_amr: Float = 2.8964E-5f, p_asj: Float = 0.0f, p_eas: Float = 0.0f, p_fin: Float = 0.0f, p_nfe: Float = 3.531E-5f, p_oth: Float = 0.0f, p_sas: Float = 3.2678E-5f, transcript_type: String = "protein_coding", gene_id: String = "ENSG00000130749", transcript_level: Int = 2, cds_length: Long = 3909, num_coding_exons: Int = 14, gene_type: String = "protein_coding", gene_length: Long = 49566, exac_pLI: Float = 1.0f, exac_obs_lof: Int = 0, exac_exp_lof: Float = 42.17f, exac_oe_lof: Float = 0.0f, brain_expression: String = "NA") extends Product with Serializable
- case class NormalizedGnomadExomes211(chromosome: String = "1", start: Long = 69897, reference: String = "T", alternate: String = "C", nfe_seu_ac: Int = 0, nfe_seu_an: Int = 0, nfe_seu_af: Option[Double] = None, nfe_seu_hom: Int = 0, fin_female_ac: Int = 0, fin_female_an: Int = 0, fin_female_af: Option[Double] = None, fin_female_hom: Int = 0, nfe_bgr_ac: Int = 0, nfe_bgr_an: Int = 0, nfe_bgr_af: Option[Double] = None, nfe_bgr_hom: Int = 0, sas_male_ac: Int = 0, sas_male_an: Int = 2, sas_male_af: Double = 0.0, sas_male_hom: Int = 0, afr_male_ac: Int = 0, afr_male_an: Int = 0, afr_male_af: Option[Double] = None, afr_male_hom: Int = 0, afr_ac: Int = 0, afr_an: Int = 0, afr_af: Option[Double] = None, afr_hom: Int = 0, eas_female_ac: Int = 0, eas_female_an: Int = 0, eas_female_af: Option[Double] = None, eas_female_hom: Int = 0, afr_female_ac: Int = 0, afr_female_an: Int = 0, afr_female_af: Option[Double] = None, afr_female_hom: Int = 0, sas_ac: Int = 0, sas_an: Int = 2, sas_af: Double = 0.0, sas_hom: Int = 0, nfe_onf_ac: Int = 0, nfe_onf_an: Int = 0, nfe_onf_af: Option[Double] = None, nfe_onf_hom: Int = 0, fin_male_ac: Int = 0, fin_male_an: Int = 0, fin_male_af: Option[Double] = None, fin_male_hom: Int = 0, nfe_female_ac: Int = 0, nfe_female_an: Int = 0, nfe_female_af: Option[Double] = None, nfe_female_hom: Int = 0, amr_ac: Int = 0, amr_an: Int = 0, amr_af: Option[Double] = None, amr_hom: Int = 0, eas_ac: Int = 0, eas_an: Int = 0, eas_af: Option[Double] = None, eas_hom: Int = 0, ac: Int = 0, an: Int = 2, af: Double = 0.0, hom: Int = 0, asj_male_ac: Int = 0, asj_male_an: Int = 0, asj_male_af: Option[Double] = None, asj_male_hom: Int = 0, oth_female_ac: Int = 0, oth_female_an: Int = 0, oth_female_af: Option[Double] = None, oth_female_hom: Int = 0, nfe_swe_ac: Int = 0, nfe_swe_an: Int = 0, nfe_swe_af: Option[Double] = None, nfe_swe_hom: Int = 0, nfe_nwe_ac: Int = 0, nfe_nwe_an: Int = 0, nfe_nwe_af: Option[Double] = None, nfe_nwe_hom: Int = 0, eas_jpn_ac: Int = 0, eas_jpn_an: Int = 0, eas_jpn_af: Option[Double] = None, eas_jpn_hom: Int = 0, female_ac: Int = 0, female_an: Int = 0, female_af: Option[Double] = None, female_hom: Int = 0, eas_kor_ac: Int = 0, eas_kor_an: Int = 0, eas_kor_af: Option[Double] = None, eas_kor_hom: Int = 0, eas_oea_ac: Int = 0, eas_oea_an: Int = 0, eas_oea_af: Option[Double] = None, eas_oea_hom: Int = 0, nfe_est_ac: Int = 0, nfe_est_an: Int = 0, nfe_est_af: Option[Double] = None, nfe_est_hom: Int = 0, eas_male_ac: Int = 0, eas_male_an: Int = 0, eas_male_af: Option[Double] = None, eas_male_hom: Int = 0, nfe_ac: Int = 0, nfe_an: Int = 0, nfe_af: Option[Double] = None, nfe_hom: Int = 0, fin_ac: Int = 0, fin_an: Int = 0, fin_af: Option[Double] = None, fin_hom: Int = 0, nfe_male_ac: Int = 0, nfe_male_an: Int = 0, nfe_male_af: Option[Double] = None, nfe_male_hom: Int = 0, sas_female_ac: Int = 0, sas_female_an: Int = 0, sas_female_af: Option[Double] = None, sas_female_hom: Int = 0, asj_female_ac: Int = 0, asj_female_an: Int = 0, asj_female_af: Option[Double] = None, asj_female_hom: Int = 0, asj_ac: Int = 0, asj_an: Int = 0, asj_af: Option[Double] = None, asj_hom: Int = 0, oth_ac: Int = 0, oth_an: Int = 0, oth_af: Option[Double] = None, oth_hom: Int = 0, male_ac: Int = 0, male_an: Int = 2, male_af: Double = 0.0, male_hom: Int = 0, amr_male_ac: Int = 0, amr_male_an: Int = 0, amr_male_af: Option[Double] = None, amr_male_hom: Int = 0, amr_female_ac: Int = 0, amr_female_an: Int = 0, amr_female_af: Option[Double] = None, amr_female_hom: Int = 0, oth_male_ac: Int = 0, oth_male_an: Int = 0, oth_male_af: Option[Double] = None, oth_male_hom: Int = 0) extends Product with Serializable
- case class NormalizedGnomadGenomes211(chromosome: String = "1", start: Long = 69897, reference: String = "T", alternate: String = "C", nfe_seu_ac: Int = 0, nfe_seu_an: Int = 106, nfe_seu_af: Double = 0.0, nfe_seu_hom: Int = 0, fin_female_ac: Int = 1, fin_female_an: Int = 1436, fin_female_af: Double = 6.963788300835655E-4, fin_female_hom: Int = 0, afr_male_ac: Int = 0, afr_male_an: Int = 4184, afr_male_af: Double = 0.0, afr_male_hom: Int = 0, afr_ac: Int = 0, afr_an: Int = 7294, afr_af: Double = 0.0, afr_hom: Int = 0, eas_female_ac: Int = 0, eas_female_an: Int = 486, eas_female_af: Double = 0.0, eas_female_hom: Int = 0, afr_female_ac: Int = 0, afr_female_an: Int = 3110, afr_female_af: Double = 0.0, afr_female_hom: Int = 0, nfe_onf_ac: Int = 0, nfe_onf_an: Int = 1880, nfe_onf_af: Double = 0.0, nfe_onf_hom: Int = 0, fin_male_ac: Int = 0, fin_male_an: Int = 1228, fin_male_af: Double = 0.0, fin_male_hom: Int = 0, nfe_female_ac: Int = 0, nfe_female_an: Int = 5790, nfe_female_af: Double = 0.0, nfe_female_hom: Int = 0, amr_ac: Int = 0, amr_an: Int = 680, amr_af: Double = 0.0, amr_hom: Int = 0, eas_ac: Int = 0, eas_an: Int = 1396, eas_af: Double = 0.0, eas_hom: Int = 0, ac: Int = 1, an: Int = 26342, af: Double = 3.7962189659099535E-5, hom: Int = 0, asj_male_ac: Int = 0, asj_male_an: Int = 190, asj_male_af: Double = 0.0, asj_male_hom: Int = 0, oth_female_ac: Int = 0, oth_female_an: Int = 468, oth_female_af: Double = 0.0, oth_female_hom: Int = 0, nfe_nwe_ac: Int = 0, nfe_nwe_an: Int = 7294, nfe_nwe_af: Double = 0.0, nfe_nwe_hom: Int = 0, female_ac: Int = 1, female_an: Int = 11692, female_af: Double = 8.552856654122477E-5, female_hom: Int = 0, nfe_est_ac: Int = 0, nfe_est_an: Int = 3844, nfe_est_af: Double = 0.0, nfe_est_hom: Int = 0, eas_male_ac: Int = 0, eas_male_an: Int = 910, eas_male_af: Double = 0.0, eas_male_hom: Int = 0, nfe_ac: Int = 0, nfe_an: Int = 13124, nfe_af: Double = 0.0, nfe_hom: Int = 0, fin_ac: Int = 1, fin_an: Int = 2664, fin_af: Double = 3.7537537537537537E-4, fin_hom: Int = 0, nfe_male_ac: Int = 0, nfe_male_an: Int = 7334, nfe_male_af: Double = 0.0, nfe_male_hom: Int = 0, asj_female_ac: Int = 0, asj_female_an: Int = 74, asj_female_af: Double = 0.0, asj_female_hom: Int = 0, asj_ac: Int = 0, asj_an: Int = 264, asj_af: Double = 0.0, asj_hom: Int = 0, oth_ac: Int = 0, oth_an: Int = 920, oth_af: Double = 0.0, oth_hom: Int = 0, male_ac: Int = 0, male_an: Int = 14650, male_af: Double = 0.0, male_hom: Int = 0, amr_male_ac: Int = 0, amr_male_an: Int = 352, amr_male_af: Double = 0.0, amr_male_hom: Int = 0, amr_female_ac: Int = 0, amr_female_an: Int = 328, amr_female_af: Double = 0.0, amr_female_hom: Int = 0, oth_male_ac: Int = 0, oth_male_an: Int = 452, oth_male_af: Double = 0.0, oth_male_hom: Int = 0) extends Product with Serializable
- case class NormalizedGnomadGenomes3(chromosome: String = "1", start: Long = 69897, end: Long = 69899, reference: String = "T", alternate: String = "C", qual: Double = 0.5, name: String = "BRAF", ac: Long = 10, ac_raw: Long = 11, af: Double = 0.5, af_raw: Double = 0.6, an: Long = 20, an_raw: Long = 21, nhomalt: Long = 10, nhomalt_raw: Long = 11) extends Product with Serializable
- case class NormalizedHpoGeneSet(entrez_gene_id: Int = 777, symbol: String = "CACNA1E", hpo_term_id: String = "HP:0001347", hpo_term_name: String = "Hyperreflexia", frequency_raw: Option[String] = None, frequency_hpo: Option[String] = None, source_info: Option[String] = None, source: String = "mim2gene", source_id: String = "OMIM:618285", ensembl_gene_id: String = "ENSG00000198216") extends Product with Serializable
- case class NormalizedHumanGenes(tax_id: Int = 9606, entrez_gene_id: Int = 777, symbol: String = "OR4F5", locus_tag: Option[String] = None, synonyms: List[String] = ..., external_references: Map[String, String] = ..., chromosome: String = "1", map_location: String = "1q25.3", description: String = ..., type_of_gene: String = "protein-coding", symbol_from_nomenclature_authority: String = "CACNA1E", full_name_from_nomenclature_authority: String = ..., nomenclature_status: String = "O", other_designations: List[String] = ..., feature_types: Option[Map[String, String]] = None, ensembl_gene_id: String = "ENSG00000198216", omim_gene_id: String = "601013") extends Product with Serializable
- case class NormalizedOmimGeneSet(chromosome: String = "chr1", start: Int = 2228318, end: Int = 2310212, cypto_location: String = "1p36.3", computed_cypto_location: String = "1p36.33-p36.32", omim_gene_id: Int = 164780, symbols: List[String] = List("SKI", "SGS"), name: String = "SKI proto-oncogene", approved_symbol: String = "SKI", entrez_gene_id: Int = 6497, ensembl_gene_id: String = "ENSG00000157933", documentation: String = "formerly mapped to 1q22-q24", phenotype: PHENOTYPE = PHENOTYPE()) extends Product with Serializable
- case class NormalizedOneKGenomes(chromosome: String = "1", start: Long = 69897, end: Long = 69898, name: String = "rs200676709", reference: String = "T", alternate: String = "C", ac: Int = 3446, af: Double = 0.688099, an: Int = 5008, afr_af: Double = 0.407, eur_af: Double = 0.7942, sas_af: Double = 0.8098, amr_af: Double = 0.6254, eas_af: Double = 0.876, dp: Int = 22289) extends Product with Serializable
- case class NormalizedOrphanetGeneSet(orpha_code: Long = 166024, disorder_id: Long = 17601, expert_link: String = ..., name: String = ..., disorder_type_id: Long = 21394, disorder_type_name: String = "Disease", disorder_group_id: Long = 36547, disorder_group_name: String = "Disorder", gene_source_of_validation: String = "22587682[PMID]", gene_id: Long = 20160, gene_symbol: String = "KIF7", gene_name: String = "kinesin family member 7", gene_synonym_list: List[String] = List("JBTS12"), ensembl_gene_id: String = "ENSG00000166813", genatlas_gene_id: String = "KIF7", HGNC_gene_id: String = "30497", omim_gene_id: String = "611254", reactome_gene_id: String = "Q2M1P5", swiss_prot_gene_id: String = "Q2M1P5", association_type: String = ..., association_type_id: Long = 17949, association_status: String = "Assessed", gene_locus_id: Long = 16859, gene_locus: String = "15q26.1", gene_locus_key: Long = 1, average_age_of_onset: List[String] = List("Infancy", "Neonatal"), average_age_of_death: List[String] = List(), type_of_inheritance: List[String] = List("Autosomal recessive")) extends Product with Serializable
- case class NormalizedSNV(chromosome: String = "1", start: Long = 69897, end: Long = 69898, reference: String = "T", alternate: String = "C", calls: Seq[Int] = Seq(1, 1), affected_status: Boolean = false, genes_symbol: List[String] = List("OR4F5"), hgvsg: String = "chr1:g.69897T>C", name: Option[String] = None, variant_class: String = "SNV", variant_type: String = "germline", zygosity: String = "HOM", study_id: String = "S1", ethnicity: Option[String] = None, participant_id: String = "P1", transmission_mode: String = "AR", study_code: String = "STUDY_CODE_1", has_alt: Boolean = true) extends Product with Serializable
- case class NormalizedSpliceAi(chromosome: String = "2", 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) extends Product with Serializable
- case class NormalizedTopmed(chromosome: String = "1", start: Long = 69897, end: Long = 69898, reference: String = "T", alternate: String = "C", name: String = "TOPMed_freeze_5?chr1:10,051", ac: Int = 2, af: Double = 1.59276E-5, an: Int = 125568, homozygotes: Int = 0, heterozygotes: Int = 2, qual: Double = 255.0, filters: List[String] = List("SVM"), qual_filter: String = "FAIL") extends Product with Serializable
- case class PHENOTYPE(name: String = "Shprintzen-Goldberg syndrome", omim_id: String = "182212", inheritance: List[String] = List("Autosomal dominant"), inheritance_code: List[String] = List("AD")) extends Product with Serializable
- case class REFSEQ(id: String = "NP_001005277", database: String = "RefSeq_peptide") extends Product with Serializable
- case class UNIPROT(id: String = "Q6IEY1", database: String = "Uniprot/SWISSPROT") extends Product with Serializable