Resource

Id:	hg38/scores/ClinVar_20240730
Type:	allele_score
Version:	0
Summary:
Description:
Labels:	reference_genome: hg38/genomes/GRCh38-hg38

Scores

ID	Type	Default annotation	Description	Range
AF_ESP	float	AF_ESP	allele frequencies from GO-ESP	[0.000, 1.000]
AF_EXAC	float	AF_EXAC	allele frequencies from ExAC	[0.000, 1.000]
AF_TGP	float	AF_TGP	allele frequencies from TGP	[0.000, 1.000]
ALLELEID	int	ALLELEID	ClinVar Allele ID	[15041.000, 3414284.000]
CLNDN	str	CLNDN	ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB	not_provided, not_specified, Inborn_genetic_diseases, Hereditary_cancer-predisposing_syndrome, Cardiovascular_phenotype, Primary_ciliary_dyskinesia, not_specified\|not_provided, not_provided\|Inborn_genetic_diseases, Fanconi_anemia, not_provided\|not_specified, Early_infantile_epileptic_encephalopathy_with_suppression_bursts, Inborn_genetic_diseases\|not_provided, Spastic_paraplegia, Nemaline_myopathy_2, Dilated_cardiomyopathy_1G\|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J, Neurofibromatosis\|_type_1, Familial_cancer_of_breast, Familial_thoracic_aortic_aneurysm_and_aortic_dissection, Long_QT_syndrome, Familial_adenomatous_polyposis_1, Other Values
CLNDNINCL	str	CLNDNINCL	For included Variant : ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB	not_specified, Vancomycin_response, Leber_congenital_amaurosis, not_provided, Anemia\|_nonspherocytic_hemolytic\|_due_to_G6PD_deficiency, Cystic_fibrosis, Citalopram_response\|Escitalopram_response\|Sertraline_response\|Voriconazole_response, Abnormality_of_neuronal_migration, Acyl-CoA_dehydrogenase_9_deficiency, Severe_early-childhood-onset_retinal_dystrophy, Vici_syndrome, Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency, Hypercholesterolemia\|_familial\|_1, Opsismodysplasia, Alpha-1-antitrypsin_deficiency, Breast-ovarian_cancer\|_familial\|_susceptibility_to\|_1, Epilepsy\|_idiopathic_generalized\|_susceptibility_to, Severe_combined_immunodeficiency\|_autosomal_recessive\|_T_cell-negative\|_B_cell-negative\|_NK_cell-positive, Tuberous_sclerosis_syndrome, Congenital_multicore_myopathy_with_external_ophthalmoplegia, Other Values
CLNDISDB	str	CLNDISDB	Tag-value pairs of disease database name and identifier submitted for germline classifications, e.g. OMIM:NNNNNN"	MedGen:C3661900, MedGen:CN169374, MeSH:D030342\|MedGen:C0950123, MedGen:CN517202, ., MONDO:MONDO:0015356\|MeSH:D009386\|MedGen:C0027672\|Orphanet:140162, MedGen:CN230736, Human_Phenotype_Ontology:HP:0012265\|MONDO:MONDO:0016575\|MedGen:C0008780\|OMIM:PS244400\|Orphanet:244, MedGen:C3661900\|., MedGen:CN169374\|MedGen:C3661900, MedGen:C3661900\|MeSH:D030342\|MedGen:C0950123, .\|MedGen:C3661900, MONDO:MONDO:0019391\|MeSH:D005199\|MedGen:C0015625\|OMIM:PS227650\|Orphanet:84, MedGen:C3661900\|MedGen:CN169374, MONDO:MONDO:0100062\|MedGen:C0393706\|OMIM:PS308350\|Orphanet:1934, MeSH:D030342\|MedGen:C0950123\|MedGen:C3661900, Human_Phenotype_Ontology:HP:0001258\|Human_Phenotype_Ontology:HP:0007062\|Human_Phenotype_Ontology:HP:0007124\|Human_Phenotype_Ontology:HP:0007216\|MedGen:C0037772, MONDO:MONDO:0009725\|MedGen:C1850569\|OMIM:256030, MONDO:MONDO:0011400\|MedGen:C1858763\|OMIM:604145\|Orphanet:154\|MONDO:MONDO:0012127\|MedGen:C1837342\|OMIM:608807\|Orphanet:140922, MONDO:MONDO:0018975\|MedGen:C0027831\|OMIM:162200\|Orphanet:636, Other Values
CLNDISDBINCL	str	CLNDISDBINCL	For included Variant: Tag-value pairs of disease database name and identifier for germline classifications, e.g. OMIM:NNNNNN	., MedGen:CN169374, MedGen:CN297638, MONDO:MONDO:0018998\|MeSH:D057130\|MedGen:C0339527\|OMIM:PS204000\|Orphanet:65, MedGen:C3661900, MONDO:MONDO:0010480\|MedGen:C2720289\|OMIM:300908\|Orphanet:466026, MONDO:MONDO:0009061\|MedGen:C0010674\|OMIM:219700\|Orphanet:586, MedGen:CN221263\|MedGen:CN221264\|MedGen:CN221265\|MedGen:CN077957, Human_Phenotype_Ontology:HP:0002269\|Human_Phenotype_Ontology:HP:0007317\|MedGen:C1837249, MONDO:MONDO:0012624\|MedGen:C4747517\|OMIM:611126\|Orphanet:99901, MONDO:MONDO:0009549\|MeSH:D000080362\|MedGen:C1855465\|OMIM:248200\|Orphanet:364055\|Orphanet:827, MONDO:MONDO:0009452\|MedGen:C1855772\|OMIM:242840\|Orphanet:1493, .\|., MONDO:MONDO:0008728\|MedGen:C2936858\|OMIM:201910\|Orphanet:90794, .\|MedGen:CN221263\|MedGen:CN221264\|MedGen:CN221265\|MedGen:CN077957, MONDO:MONDO:0007750\|MedGen:C0745103\|OMIM:143890\|Orphanet:391665, MONDO:MONDO:0009785\|MedGen:C0432219\|OMIM:258480\|Orphanet:2746, MONDO:MONDO:0013282\|MedGen:C0221757\|OMIM:613490\|Orphanet:60, MONDO:MONDO:0011450\|MedGen:C2676676\|OMIM:604370\|Orphanet:145, MONDO:MONDO:0011086\|MedGen:C1832322\|OMIM:601457\|Orphanet:331206, Other Values
CLNREVSTAT	str	CLNREVSTAT	ClinVar review status of germline classification for the Variation ID	criteria_provided\|_single_submitter, criteria_provided\|_multiple_submitters\|_no_conflicts, criteria_provided\|_conflicting_classifications, no_assertion_criteria_provided, reviewed_by_expert_panel, no_classification_provided, no_classification_for_the_single_variant, no_classifications_from_unflagged_records, practice_guideline
CLNSIG	str	CLNSIG	Aggregate germline classification for this single variant; multiple values are separated by a vertical bar	Uncertain_significance, Likely_benign, Benign, Pathogenic, Conflicting_classifications_of_pathogenicity, Likely_pathogenic, Benign/Likely_benign, Pathogenic/Likely_pathogenic, not_provided, drug_response, other, no_classification_for_the_single_variant, risk_factor, association, Uncertain_significance/Uncertain_risk_allele, Affects, no_classifications_from_unflagged_records, Likely_risk_allele, Pathogenic\|other, Pathogenic\|drug_response, Other Values
CLNSIGCONF	str	CLNSIGCONF	Conflicting germline classification for this single variant; multiple values are separated by a vertical bar	Uncertain_significance(1)\|Likely_benign(1), Uncertain_significance(2)\|Likely_benign(1), Uncertain_significance(1)\|Likely_benign(2), Likely_pathogenic(1)\|Uncertain_significance(1), Uncertain_significance(1)\|Benign(1), Uncertain_significance(3)\|Likely_benign(1), Uncertain_significance(1)\|Likely_benign(3), Pathogenic(1)\|Uncertain_significance(1), Uncertain_significance(4)\|Likely_benign(1), Uncertain_significance(2)\|Likely_benign(2), Uncertain_significance(1)\|Benign(1)\|Likely_benign(1), Uncertain_significance(2)\|Benign(1), Likely_pathogenic(1)\|Uncertain_significance(2), Uncertain_significance(5)\|Likely_benign(1), Uncertain_significance(1)\|Benign(1)\|Likely_benign(2), Uncertain_significance(3)\|Likely_benign(2), Uncertain_significance(1)\|Likely_benign(4), Uncertain_significance(2)\|Likely_benign(3), Likely_pathogenic(2)\|Uncertain_significance(1), Pathogenic(1)\|Likely_pathogenic(1)\|Uncertain_significance(1), Other Values
CLNSIGINCL	str	CLNSIGINCL	Germline classification for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:classification; multiple values are separated by a vertical bar	1723892:drug_response, 14353:Uncertain_significance, 5345:Benign, 440728:risk_factor, 869112:association, 2575166:Pathogenic, 1184302:Uncertain_significance, 17709:Benign, 36924:Pathogenic, 29691:risk_factor, 12182:Pathogenic, 13542:risk_factor, 17736:Affects\|2573152:Benign\|2573153:Benign\|2573154:Benign, 633844:drug_response\|633885:drug_response\|633887:drug_response\|633888:drug_response\|633904:drug_response\|633905:drug_response\|633910:drug_response\|633913:drug_response\|633916:drug_response\|633925:drug_response\|633927:drug_response\|633930:drug_response\|633941:drug_response\|633952:drug_response\|633958:drug_response\|633965:drug_response\|634060:drug_response\|634114:drug_response\|634132:drug_response\|634136:drug_response\|634137:drug_response\|634138:drug_response\|634205:drug_response\|634212:drug_response\|634213:drug_response\|634232:drug_response\|634272:drug_response\|634298:drug_response\|634355:drug_response\|634365:drug_response\|634375:drug_response\|634413:drug_response\|634414:drug_response\|634427:drug_response\|638789:drug_response, 438264:Pathogenic, 1722723:Likely_pathogenic, 202166:not_provided, 12304:Pathogenic, 14182:Pathogenic, 14180:Pathogenic, Other Values
CLNVC	str	CLNVC	Variant type	single_nucleotide_variant, Deletion, Duplication, Microsatellite, Indel, Insertion, Inversion, Variation
CLNVCSO	str	CLNVCSO	Sequence Ontology id for variant type	SO:0001483, SO:0000159, SO:1000035, SO:0000289, SO:1000032, SO:0000667, SO:1000036, SO:0001059
CLNVI	str	CLNVI	the variant's clinical sources reported as tag-value pairs of database and variant identifier	Genetic_Testing_Registry_(GTR):GTR000613302, OMIM:154270.0001, Genetic_Testing_Registry_(GTR):GTR000562560\|Genetic_Testing_Registry_(GTR):GTR000613302, OMIM:111700.0002, OMIM:610665.0001, OMIM:131230.0001, OMIM:173510.0008, OMIM:613815.0016, OMIM:605634.0002, OMIM:607340.0001, OMIM:604824.0001, OMIM:612386.0014, OMIM:601146.0012, OMIM:147795.0004, OMIM:613890.0003, OMIM:191315.0006, OMIM:608515.0002, OMIM:600031.0002, OMIM:600713.0001, OMIM:102610.0015, Other Values
GENEINFO	str	GENEINFO	Gene(s) for the variant reported as gene symbol:gene id. The gene symbol and id are delimited by a colon (:) and each pair is delimited by a vertical bar (\|)	BRCA2:675, TTN:7273\|TTN-AS1:100506866, APC:324, NF1:4763, BRCA1:672, TTN:7273, TSC2:7249, ATM:472, MSH6:2956, POLE:5426, RYR1:6261, NEB:4703, DMD:1756, RYR2:6262, FBN1:2200, MSH2:4436, USH2A:7399, ATM:472\|C11orf65:160140, DICER1:23405, ADGRV1:84059, Other Values
MC	str	MC	comma separated list of molecular consequence in the form of Sequence Ontology ID\|molecular_consequence	SO:0001583\|missense_variant, SO:0001627\|intron_variant, SO:0001819\|synonymous_variant, SO:0001583\|missense_variant\|SO:0001619\|non-coding_transcript_variant, SO:0001583\|missense_variant\|SO:0001627\|intron_variant, SO:0001589\|frameshift_variant, SO:0001619\|non-coding_transcript_variant\|SO:0001819\|synonymous_variant, SO:0001587\|nonsense, SO:0001624\|3_prime_UTR_variant, SO:0001627\|intron_variant\|SO:0001819\|synonymous_variant, SO:0001583\|missense_variant\|SO:0001623\|5_prime_UTR_variant, SO:0001575\|splice_donor_variant, SO:0001583\|missense_variant\|SO:0001619\|non-coding_transcript_variant\|SO:0001627\|intron_variant, SO:0001574\|splice_acceptor_variant, SO:0001583\|missense_variant\|SO:0001624\|3_prime_UTR_variant, SO:0001822\|inframe_deletion, SO:0001583\|missense_variant\|SO:0001619\|non-coding_transcript_variant\|SO:0001623\|5_prime_UTR_variant, SO:0001623\|5_prime_UTR_variant\|SO:0001819\|synonymous_variant, SO:0001623\|5_prime_UTR_variant, SO:0001589\|frameshift_variant\|SO:0001619\|non-coding_transcript_variant, Other Values
ONCDN	str	ONCDN	ClinVar's preferred disease name for the concept specified by disease identifiers in ONCDISDB	Gastrointestinal_stromal_tumor, Pancreatic_ductal_adenocarcinoma, Acute_myeloid_leukemia, Malignant_neoplastic_disease
ONCREVSTAT	str	ONCREVSTAT	ClinVar review status of oncogenicity classification for the Variation ID	no_classification_for_the_single_variant, no_assertion_criteria_provided, criteria_provided\|_single_submitter
ONCDISDB	str	ONCDISDB	Tag-value pairs of disease database name and identifier submitted for oncogenicity classifications, e.g. MedGen:NNNNNN	Human_Phenotype_Ontology:HP:0100723\|MONDO:MONDO:0011719\|MeSH:D046152\|MedGen:C0238198\|OMIM:606764\|Orphanet:44890, MONDO:MONDO:0005184\|MedGen:C1335302, Human_Phenotype_Ontology:HP:0001914\|Human_Phenotype_Ontology:HP:0004808\|Human_Phenotype_Ontology:HP:0004843\|Human_Phenotype_Ontology:HP:0005516\|Human_Phenotype_Ontology:HP:0006724\|Human_Phenotype_Ontology:HP:0006728\|MONDO:MONDO:0018874\|MeSH:D015470\|MedGen:C0023467\|OMIM:601626\|Orphanet:519, MONDO:MONDO:0004992\|MedGen:C0006826
ONC	str	ONC	Aggregate oncogenicity classification for this single variant; multiple values are separated by a vertical bar	no_classification_for_the_single_variant, Likely_oncogenic, Uncertain_significance, Oncogenic, Likely_benign
ORIGIN	str	ORIGIN	Allele origin	1, 0, 32, 2, 5, 4, 33, 17, 16, 9, 3, 8, 64, 65, 21, 25, 13, 49, 35, 37, Other Values
RS	str	RS	Gene(s) for the variant reported as gene symbol:gene id. The gene symbol and id are delimited by a colon (:) and each pair is delimited by a vertical bar (\|)	193922936, 11309117, 56986587, 535965616, 746054139, 3032358, 35896485, 200900896, 55712755, 59431308, 367885911, 3078066, 41550117, 3831942, 55889738, 371983878, 10524346, 35115360, 766545285, 746853821, Other Values
SCIDN	str	SCIDN	ClinVar's preferred disease name for the concept specified by disease identifiers in SCIDISDB	Chronic_myelogenous_leukemia\|_BCR-ABL1_positive, Acute_myeloid_leukemia, Diffuse_midline_glioma\|_H3_K27M-mutant, Non-small_cell_lung_carcinoma, Colorectal_cancer\|Melanoma, Essential_thrombocythemia\|Acute_myeloid_leukemia
SCIDISDB	str	SCIDISDB	Tag-value pairs of disease database name and identifier submitted for somatic clinial impact classifications, e.g. MedGen:NNNNNN	Human_Phenotype_Ontology:HP:0005506\|Human_Phenotype_Ontology:HP:0005544\|MONDO:MONDO:0011996\|MeSH:D015464\|MedGen:C0279543\|OMIM:608232\|Orphanet:521, Human_Phenotype_Ontology:HP:0001914\|Human_Phenotype_Ontology:HP:0004808\|Human_Phenotype_Ontology:HP:0004843\|Human_Phenotype_Ontology:HP:0005516\|Human_Phenotype_Ontology:HP:0006724\|Human_Phenotype_Ontology:HP:0006728\|MONDO:MONDO:0018874\|MeSH:D015470\|MedGen:C0023467\|OMIM:601626\|Orphanet:519, MONDO:MONDO:0957196\|MedGen:C4289688, Human_Phenotype_Ontology:HP:0030358\|MONDO:MONDO:0005233\|MeSH:D002289\|MedGen:C0007131, MONDO:MONDO:0005575\|MedGen:C0346629\|OMIM:114500\|Human_Phenotype_Ontology:HP:0002861\|Human_Phenotype_Ontology:HP:0002887\|Human_Phenotype_Ontology:HP:0006777\|Human_Phenotype_Ontology:HP:0007474\|MONDO:MONDO:0005105\|MeSH:D008545\|MedGen:C0025202, MONDO:MONDO:0005029\|MeSH:D013920\|MedGen:C0040028\|Orphanet:3318\|Human_Phenotype_Ontology:HP:0001914\|Human_Phenotype_Ontology:HP:0004808\|Human_Phenotype_Ontology:HP:0004843\|Human_Phenotype_Ontology:HP:0005516\|Human_Phenotype_Ontology:HP:0006724\|Human_Phenotype_Ontology:HP:0006728\|MONDO:MONDO:0018874\|MeSH:D015470\|MedGen:C0023467\|OMIM:601626\|Orphanet:519
SCI	str	SCI	Aggregate somatic clinical impact for this single variant; multiple values are separated by a vertical bar	no_classification_for_the_single_variant, Tier_IV_-_Benign/Likely_benign, Tier_I_-_Strong, Tier_III_-_Unknown, Tier_II_-_Potential
SCIREVSTAT	str	SCIREVSTAT	ClinVar review status of somatic clinical impact for the Variation ID	no_classification_for_the_single_variant, no_assertion_criteria_provided, criteria_provided\|_single_submitter, criteria_provided\|_multiple_submitters

Type

Default annotation

Description

Histogram

Range

AF_ESP

float

AF_ESP

allele frequencies from GO-ESP

[0.000, 1.000]

AF_EXAC

float

AF_EXAC

allele frequencies from ExAC

[0.000, 1.000]

AF_TGP

float

AF_TGP

allele frequencies from TGP

[0.000, 1.000]

ALLELEID

int

ALLELEID

ClinVar Allele ID

[15041.000, 3414284.000]

CLNDN

str

CLNDN

ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB

not_provided, not_specified, Inborn_genetic_diseases, Hereditary_cancer-predisposing_syndrome, Cardiovascular_phenotype, Primary_ciliary_dyskinesia, not_specified|not_provided, not_provided|Inborn_genetic_diseases, Fanconi_anemia, not_provided|not_specified, Early_infantile_epileptic_encephalopathy_with_suppression_bursts, Inborn_genetic_diseases|not_provided, Spastic_paraplegia, Nemaline_myopathy_2, Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J, Neurofibromatosis|_type_1, Familial_cancer_of_breast, Familial_thoracic_aortic_aneurysm_and_aortic_dissection, Long_QT_syndrome, Familial_adenomatous_polyposis_1, Other Values

CLNDNINCL

str

CLNDNINCL

For included Variant : ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB

not_specified, Vancomycin_response, Leber_congenital_amaurosis, not_provided, Anemia|_nonspherocytic_hemolytic|_due_to_G6PD_deficiency, Cystic_fibrosis, Citalopram_response|Escitalopram_response|Sertraline_response|Voriconazole_response, Abnormality_of_neuronal_migration, Acyl-CoA_dehydrogenase_9_deficiency, Severe_early-childhood-onset_retinal_dystrophy, Vici_syndrome, Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency, Hypercholesterolemia|_familial|_1, Opsismodysplasia, Alpha-1-antitrypsin_deficiency, Breast-ovarian_cancer|_familial|_susceptibility_to|_1, Epilepsy|_idiopathic_generalized|_susceptibility_to, Severe_combined_immunodeficiency|_autosomal_recessive|_T_cell-negative|_B_cell-negative|_NK_cell-positive, Tuberous_sclerosis_syndrome, Congenital_multicore_myopathy_with_external_ophthalmoplegia, Other Values

CLNDISDB

str

CLNDISDB

Tag-value pairs of disease database name and identifier submitted for germline classifications, e.g. OMIM:NNNNNN"

CLNDISDBINCL

str

CLNDISDBINCL

For included Variant: Tag-value pairs of disease database name and identifier for germline classifications, e.g. OMIM:NNNNNN

CLNREVSTAT

str

CLNREVSTAT

ClinVar review status of germline classification for the Variation ID

criteria_provided|_single_submitter, criteria_provided|_multiple_submitters|_no_conflicts, criteria_provided|_conflicting_classifications, no_assertion_criteria_provided, reviewed_by_expert_panel, no_classification_provided, no_classification_for_the_single_variant, no_classifications_from_unflagged_records, practice_guideline

CLNSIG

str

CLNSIG

Aggregate germline classification for this single variant; multiple values are separated by a vertical bar

Uncertain_significance, Likely_benign, Benign, Pathogenic, Conflicting_classifications_of_pathogenicity, Likely_pathogenic, Benign/Likely_benign, Pathogenic/Likely_pathogenic, not_provided, drug_response, other, no_classification_for_the_single_variant, risk_factor, association, Uncertain_significance/Uncertain_risk_allele, Affects, no_classifications_from_unflagged_records, Likely_risk_allele, Pathogenic|other, Pathogenic|drug_response, Other Values

CLNSIGCONF

str

CLNSIGCONF

Conflicting germline classification for this single variant; multiple values are separated by a vertical bar

CLNSIGINCL

str

CLNSIGINCL

Germline classification for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:classification; multiple values are separated by a vertical bar

CLNVC

str

CLNVC

Variant type

single_nucleotide_variant, Deletion, Duplication, Microsatellite, Indel, Insertion, Inversion, Variation

CLNVCSO

str

CLNVCSO

Sequence Ontology id for variant type

SO:0001483, SO:0000159, SO:1000035, SO:0000289, SO:1000032, SO:0000667, SO:1000036, SO:0001059

CLNVI

str

CLNVI

the variant's clinical sources reported as tag-value pairs of database and variant identifier

Genetic_Testing_Registry_(GTR):GTR000613302, OMIM:154270.0001, Genetic_Testing_Registry_(GTR):GTR000562560|Genetic_Testing_Registry_(GTR):GTR000613302, OMIM:111700.0002, OMIM:610665.0001, OMIM:131230.0001, OMIM:173510.0008, OMIM:613815.0016, OMIM:605634.0002, OMIM:607340.0001, OMIM:604824.0001, OMIM:612386.0014, OMIM:601146.0012, OMIM:147795.0004, OMIM:613890.0003, OMIM:191315.0006, OMIM:608515.0002, OMIM:600031.0002, OMIM:600713.0001, OMIM:102610.0015, Other Values

GENEINFO

str

GENEINFO

Gene(s) for the variant reported as gene symbol:gene id. The gene symbol and id are delimited by a colon (:) and each pair is delimited by a vertical bar (|)

BRCA2:675, TTN:7273|TTN-AS1:100506866, APC:324, NF1:4763, BRCA1:672, TTN:7273, TSC2:7249, ATM:472, MSH6:2956, POLE:5426, RYR1:6261, NEB:4703, DMD:1756, RYR2:6262, FBN1:2200, MSH2:4436, USH2A:7399, ATM:472|C11orf65:160140, DICER1:23405, ADGRV1:84059, Other Values

str

comma separated list of molecular consequence in the form of Sequence Ontology ID|molecular_consequence

ONCDN

str

ONCDN

ClinVar's preferred disease name for the concept specified by disease identifiers in ONCDISDB

Gastrointestinal_stromal_tumor, Pancreatic_ductal_adenocarcinoma, Acute_myeloid_leukemia, Malignant_neoplastic_disease

ONCREVSTAT

str

ONCREVSTAT

ClinVar review status of oncogenicity classification for the Variation ID

no_classification_for_the_single_variant, no_assertion_criteria_provided, criteria_provided|_single_submitter

ONCDISDB

str

ONCDISDB

Tag-value pairs of disease database name and identifier submitted for oncogenicity classifications, e.g. MedGen:NNNNNN

ONC

str

ONC

Aggregate oncogenicity classification for this single variant; multiple values are separated by a vertical bar

no_classification_for_the_single_variant, Likely_oncogenic, Uncertain_significance, Oncogenic, Likely_benign

ORIGIN

str

ORIGIN

Allele origin

1, 0, 32, 2, 5, 4, 33, 17, 16, 9, 3, 8, 64, 65, 21, 25, 13, 49, 35, 37, Other Values

str

Gene(s) for the variant reported as gene symbol:gene id. The gene symbol and id are delimited by a colon (:) and each pair is delimited by a vertical bar (|)

193922936, 11309117, 56986587, 535965616, 746054139, 3032358, 35896485, 200900896, 55712755, 59431308, 367885911, 3078066, 41550117, 3831942, 55889738, 371983878, 10524346, 35115360, 766545285, 746853821, Other Values

SCIDN

str

SCIDN

ClinVar's preferred disease name for the concept specified by disease identifiers in SCIDISDB

Chronic_myelogenous_leukemia|_BCR-ABL1_positive, Acute_myeloid_leukemia, Diffuse_midline_glioma|_H3_K27M-mutant, Non-small_cell_lung_carcinoma, Colorectal_cancer|Melanoma, Essential_thrombocythemia|Acute_myeloid_leukemia

SCIDISDB

str

SCIDISDB

Tag-value pairs of disease database name and identifier submitted for somatic clinial impact classifications, e.g. MedGen:NNNNNN

SCI

str

SCI

Aggregate somatic clinical impact for this single variant; multiple values are separated by a vertical bar

no_classification_for_the_single_variant, Tier_IV_-_Benign/Likely_benign, Tier_I_-_Strong, Tier_III_-_Unknown, Tier_II_-_Potential

SCIREVSTAT

str

SCIREVSTAT

ClinVar review status of somatic clinical impact for the Variation ID

no_classification_for_the_single_variant, no_assertion_criteria_provided, criteria_provided|_single_submitter, criteria_provided|_multiple_submitters

Files

Filename	Size	md5
clinvar_20240730.vcf	1.11 GB	7cf71a319a358a12af1d846c9a2f7a0c
clinvar_20240730.vcf.dvc	106.0 B	edda6efc4ce3674a47a6a64d148fc8d7
clinvar_20240730_chr.header.vcf.gz	1.35 KB	dd54c9ab1fb6afeea484b5e25c9c8ce0
clinvar_20240730_chr.header.vcf.gz.dvc	114.0 B	d253a667ec1557ff52d286648de19129
clinvar_20240730_chr.header.vcf.gz.tbi	72.0 B	4cb176febbc8c26d717a6c6e67b9c905
clinvar_20240730_chr.header.vcf.gz.tbi.dvc	116.0 B	77d622384f94ea92e494adc10af275e0
clinvar_20240730_chr.vcf.gz	96.99 MB	f08b390ca6f3e120e867c51fead6f310
clinvar_20240730_chr.vcf.gz.dvc	112.0 B	5a22525321aca7e83801f7ab111c402e
clinvar_20240730_chr.vcf.gz.tbi	523.22 KB	1bf7469c46bcec7fbb478e30dc4e3358
clinvar_20240730_chr.vcf.gz.tbi.dvc	113.0 B	cd3f4285f0540f43b580350c77918616
clinvar_20240730_chr_with_origin_name.vcf	34.0 B	4d757233ee10cec0a3c7a0cd3b41b41d
customplot1.py	10.52 KB	ef1346de356abb4d2588762a833a9905
dataPrep.sh	722.0 B	787c887302b2fd4305896e50971df9a6
genomic_resource.yaml	9.59 KB	fd44fe8c32b67b9cbf29d100d50b6d31
statistics/

Filename

Size

md5

clinvar_20240730.vcf

1.11 GB

7cf71a319a358a12af1d846c9a2f7a0c

clinvar_20240730.vcf.dvc

106.0 B

edda6efc4ce3674a47a6a64d148fc8d7

clinvar_20240730_chr.header.vcf.gz

1.35 KB

dd54c9ab1fb6afeea484b5e25c9c8ce0