Access ClinVar Data from MyVariant.info Services

ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence. It is commonly used in genomics research and is also a very important data source included in MyVariant.info.

myvariant.py is an easy-to-use Python wrapper to access MyVariant.Info services. By utilizing myvariant.py, you can easily access ClinVar data with only a few lines of code.

In this demo, we will show you how to use myvariant.py to query for ClinVar data by a few use cases.

Install myvariant.py

Install myvariant.py is easy, as pip is your friend:

pip install myvariant

You can find more usage examples from MyVariant.py PyPI page. The detailed API documentation can be found at http://myvariant-py.readthedocs.org .

Now you just need to import it and instantiate MyVariantInfo class:

In [1]:
import myvariant
mv = myvariant.MyVariantInfo()

Retrieve ClinVar data of a variant or variants

myvariant.py allows you to query for annotation information of a given variant or variants by calling getvariant or getvariants method. You can also customize the output by passing specific field name or names as parameters. For more information about field names available in MyVariant.info, please check the detailed documentation.

  • If you want to get available ClinVar annotation of a variant, you can pass an hgvs id and 'clinvar' as the fields parameter to the getvariant method. Without fields parameter, you will get back all annotations available for the passed variant, including ClinVar.
In [2]:
mv.getvariant('chr17:g.7578532A>G', fields = 'clinvar')
Out[2]:
{u'_id': u'chr17:g.7578532A>G',
 u'_version': 1,
 u'clinvar': {u'allele_id': 27396,
  u'alt': u'G',
  u'chrom': u'17',
  u'cytogenic': u'17p13.1',
  u'gene': {u'id': u'7157', u'symbol': u'TP53'},
  u'hg19': {u'end': 7578532, u'start': 7578532},
  u'hg38': {u'end': 7675214, u'start': 7675214},
  u'hgvs': {u'coding': [u'LRG_321t8:c.281T>C',
    u'LRG_321t5:c.2T>C',
    u'LRG_321t6:c.2T>C',
    u'LRG_321t7:c.2T>C',
    u'LRG_321t1:c.398T>C',
    u'LRG_321t2:c.398T>C',
    u'LRG_321t3:c.398T>C',
    u'LRG_321t4:c.398T>C',
    u'NM_001276697.1:c.-80T>C',
    u'NM_001126118.1:c.281T>C',
    u'NM_001126115.1:c.2T>C',
    u'NM_001126116.1:c.2T>C',
    u'NM_001126117.1:c.2T>C',
    u'NM_000546.5:c.398T>C',
    u'NM_001126112.2:c.398T>C',
    u'NM_001126113.2:c.398T>C',
    u'NM_001126114.2:c.398T>C'],
   u'genomic': [u'LRG_321:g.17337T>C',
    u'NG_017013.2:g.17337T>C',
    u'NC_000017.11:g.7675214A>G',
    u'NC_000017.10:g.7578532A>G']},
  u'omim': u'191170.0011',
  u'rcv': {u'accession': u'RCV000013151',
   u'clinical_significance': u'Pathogenic',
   u'conditions': {u'age_of_onset': u'All ages',
    u'identifiers': {u'medgen': u'C1835398',
     u'omim': u'151623',
     u'orphanet': u'524'},
    u'name': u'Li-Fraumeni syndrome 1 (LFS1)'},
   u'last_evaluated': u'1999-01-01',
   u'number_submitters': 1,
   u'origin': u'germline',
   u'preferred_name': u'NM_000546.5(TP53):c.398T>C (p.Met133Thr)',
   u'review_status': u'no assertion criteria provided'},
  u'ref': u'A',
  u'rsid': u'rs28934873',
  u'type': u'single nucleotide variant',
  u'variant_id': 12357}}
  • Suppose you want to retrieve the clinvar variant id of a variant, you can pass hgvs id and the speicific field name to the getvariant method.
In [3]:
mv.getvariant('chr17:g.7578532A>G', fields = 'clinvar.variant_id')
Out[3]:
{u'_id': u'chr17:g.7578532A>G',
 u'_version': 1,
 u'clinvar': {u'variant_id': 12357}}
  • You can also retreive annotation information of multiple fields for the same variant by calling the getvariant method.
In [4]:
out = mv.getvariant('chr17:g.7578532A>G', fields = ['clinvar.variant_id','clinvar.rcv.accession'])
In this case, your output is clinvar *variant id* and *rcv accession number* of the variant.
In [5]:
out
Out[5]:
{u'_id': u'chr17:g.7578532A>G',
 u'_version': 1,
 u'clinvar': {u'rcv': {u'accession': u'RCV000013151'}, u'variant_id': 12357}}
  • One major advantage using MyVariant.info is that you can query fields from different data sources.
In [6]:
out = mv.getvariant('chr6:g.26093141G>A', fields = ['clinvar.rcv.accession', 'exac.af', 'dbnsfp.sift.converted_rankscore'])
Here, you get the *rcv accession number* from ClinVar, *allele frequency* information from EXAC and *sift converted_rankscore* from dbnsfp for your target variant as the output.
In [7]:
out
Out[7]:
{u'_id': u'chr6:g.26093141G>A',
 u'_version': 1,
 u'clinvar': {u'rcv': [{u'accession': u'RCV000000019'},
   {u'accession': u'RCV000000020'},
   {u'accession': u'RCV000000021'},
   {u'accession': u'RCV000000022'},
   {u'accession': u'RCV000000023'},
   {u'accession': u'RCV000000024'},
   {u'accession': u'RCV000000025'},
   {u'accession': u'RCV000117222'},
   {u'accession': u'RCV000178096'}]},
 u'dbnsfp': {u'sift': {u'converted_rankscore': 0.91219}},
 u'exac': {u'af': 0.032}}
  • To retrieve annotation objects for a list of hgvs ids, you can call the getvariants methods.
In [8]:
out = mv.getvariants(['chr6:g.26093141G>A', 'chr11:g.118896012A>G'], fields = 'clinvar.gene.symbol')
querying 1-2...done.
Here, your output is the *gene symbol* of both variants.
In [9]:
out
Out[9]:
[{u'_id': u'chr6:g.26093141G>A',
  u'_score': 1.0,
  u'clinvar': {u'gene': {u'symbol': u'HFE'}},
  u'query': u'chr6:g.26093141G>A'},
 {u'_id': u'chr11:g.118896012A>G',
  u'_score': 1.0,
  u'clinvar': {u'gene': {u'symbol': u'SLC37A4'}},
  u'query': u'chr11:g.118896012A>G'}]

Make queries based on a specific ClinVar field or fields

myvariant.py also allows you to query for a specific field or fields in MyVariant.info.

  • You can make query based on a single RCV accession number.
In [10]:
mv.query('clinvar.rcv.accession:RCV000013151')
Out[10]:
{u'hits': [{u'_id': u'chr17:g.7578532A>G',
   u'_score': 16.53367,
   u'cadd': {u'_license': u'http://goo.gl/bkpNhq',
    u'alt': u'G',
    u'anc': u'A',
    u'annotype': u'CodingTranscript',
    u'bstatistic': 473,
    u'chmm': {u'bivflnk': 0.0,
     u'enh': 0.008,
     u'enhbiv': 0.0,
     u'het': 0.0,
     u'quies': 0.008,
     u'reprpc': 0.0,
     u'reprpcwk': 0.0,
     u'tssa': 0.0,
     u'tssaflnk': 0.0,
     u'tssbiv': 0.0,
     u'tx': 0.819,
     u'txflnk': 0.0,
     u'txwk': 0.11,
     u'znfrpts': 0.055},
    u'chrom': 17,
    u'consdetail': u'missense',
    u'consequence': u'NON_SYNONYMOUS',
    u'consscore': 7,
    u'cpg': 0.07,
    u'dna': {u'helt': 0.01, u'mgw': 0.24, u'prot': 4.04, u'roll': 1.29},
    u'encode': {u'exp': 1100.13,
     u'h3k27ac': 6.2,
     u'h3k4me1': 16.04,
     u'h3k4me3': 3.08,
     u'nucleo': 1.8},
    u'exon': u'5/11',
    u'fitcons': 0.726386,
    u'gc': 0.58,
    u'gene': {u'ccds_id': u'CCDS11118.1',
     u'cds': {u'cdna_pos': 588,
      u'cds_pos': 398,
      u'rel_cdna_pos': 0.23,
      u'rel_cds_pos': 0.34},
     u'feature_id': u'ENST00000269305',
     u'gene_id': u'ENSG00000141510',
     u'genename': u'TP53',
     u'prot': {u'domain': u'ndomain', u'protpos': 133, u'rel_prot_pos': 0.34}},
    u'gerp': {u'n': 5.48, u'rs': 367.5, u'rs_pval': 1.53237e-26, u's': 5.48},
    u'grantham': 81,
    u'isderived': u'TRUE',
    u'isknownvariant': u'FALSE',
    u'istv': u'FALSE',
    u'length': 0,
    u'mapability': {u'20bp': 1, u'35bp': 1},
    u'min_dist_tse': 16,
    u'min_dist_tss': 95,
    u'mutindex': 34,
    u'naa': u'T',
    u'oaa': u'M',
    u'phast_cons': {u'mammalian': 0.998,
     u'primate': 0.809,
     u'vertebrate': 1.0},
    u'phred': 23.5,
    u'phylop': {u'mammalian': 2.204, u'primate': 0.53, u'vertebrate': 4.641},
    u'polyphen': {u'cat': u'benign', u'val': 0.237},
    u'pos': 7578532,
    u'rawscore': 3.913993,
    u'ref': u'A',
    u'segway': u'TF2',
    u'sift': {u'cat': u'deleterious', u'val': 0},
    u'type': u'SNV'},
   u'clinvar': {u'allele_id': 27396,
    u'alt': u'G',
    u'chrom': u'17',
    u'cytogenic': u'17p13.1',
    u'gene': {u'id': u'7157', u'symbol': u'TP53'},
    u'hg19': {u'end': 7578532, u'start': 7578532},
    u'hg38': {u'end': 7675214, u'start': 7675214},
    u'hgvs': {u'coding': [u'LRG_321t8:c.281T>C',
      u'LRG_321t5:c.2T>C',
      u'LRG_321t6:c.2T>C',
      u'LRG_321t7:c.2T>C',
      u'LRG_321t1:c.398T>C',
      u'LRG_321t2:c.398T>C',
      u'LRG_321t3:c.398T>C',
      u'LRG_321t4:c.398T>C',
      u'NM_001276697.1:c.-80T>C',
      u'NM_001126118.1:c.281T>C',
      u'NM_001126115.1:c.2T>C',
      u'NM_001126116.1:c.2T>C',
      u'NM_001126117.1:c.2T>C',
      u'NM_000546.5:c.398T>C',
      u'NM_001126112.2:c.398T>C',
      u'NM_001126113.2:c.398T>C',
      u'NM_001126114.2:c.398T>C'],
     u'genomic': [u'LRG_321:g.17337T>C',
      u'NG_017013.2:g.17337T>C',
      u'NC_000017.11:g.7675214A>G',
      u'NC_000017.10:g.7578532A>G']},
    u'omim': u'191170.0011',
    u'rcv': {u'accession': u'RCV000013151',
     u'clinical_significance': u'Pathogenic',
     u'conditions': {u'age_of_onset': u'All ages',
      u'identifiers': {u'medgen': u'C1835398',
       u'omim': u'151623',
       u'orphanet': u'524'},
      u'name': u'Li-Fraumeni syndrome 1 (LFS1)'},
     u'last_evaluated': u'1999-01-01',
     u'number_submitters': 1,
     u'origin': u'germline',
     u'preferred_name': u'NM_000546.5(TP53):c.398T>C (p.Met133Thr)',
     u'review_status': u'no assertion criteria provided'},
    u'ref': u'A',
    u'rsid': u'rs28934873',
    u'type': u'single nucleotide variant',
    u'variant_id': 12357},
   u'cosmic': {u'alt': u'C',
    u'chrom': u'17',
    u'cosmic_id': u'COSM43723',
    u'hg19': {u'end': 7578532, u'start': 7578532},
    u'mut_freq': 0.03,
    u'mut_nt': u'T>C',
    u'ref': u'T',
    u'tumor_site': u'stomach'},
   u'dbnsfp': {u'aa': {u'alt': u'T',
     u'codonpos': 2,
     u'pos': [u'133',
      u'133',
      u'1',
      u'1',
      u'1',
      u'94',
      u'133',
      u'94',
      u'133',
      u'133',
      u'133',
      u'94',
      u'94',
      u'133',
      u'94',
      u'122',
      u'1',
      u'40',
      u'133',
      u'126'],
     u'ref': u'M',
     u'refcodon': u'ATG'},
    u'alt': u'G',
    u'ancestral_allele': u'A',
    u'cds_strand': u'-',
    u'chrom': u'17',
    u'clinvar': {u'clinsig': 5,
     u'rs': u'rs28934873',
     u'trait': u'Li-Fraumeni_syndrome_1'},
    u'ensembl': {u'geneid': u'ENSG00000141510',
     u'proteinid': [u'ENSP00000410739',
      u'ENSP00000352610',
      u'ENSP00000484409',
      u'ENSP00000478499',
      u'ENSP00000481179',
      u'ENSP00000478219',
      u'ENSP00000269305',
      u'ENSP00000481638',
      u'ENSP00000482258',
      u'ENSP00000398846',
      u'ENSP00000391127',
      u'ENSP00000482222',
      u'ENSP00000480868',
      u'ENSP00000391478',
      u'ENSP00000482537',
      u'ENSP00000482903',
      u'ENSP00000425104',
      u'ENSP00000423862',
      u'ENSP00000424104',
      u'ENSP00000473895'],
     u'transcriptid': [u'ENST00000413465',
      u'ENST00000359597',
      u'ENST00000504290',
      u'ENST00000510385',
      u'ENST00000504937',
      u'ENST00000610292',
      u'ENST00000269305',
      u'ENST00000620739',
      u'ENST00000617185',
      u'ENST00000455263',
      u'ENST00000420246',
      u'ENST00000622645',
      u'ENST00000610538',
      u'ENST00000445888',
      u'ENST00000619485',
      u'ENST00000615910',
      u'ENST00000509690',
      u'ENST00000514944',
      u'ENST00000508793',
      u'ENST00000604348']},
    u'fathmm': {u'pred': [u'D',
      u'D',
      u'.',
      u'.',
      u'.',
      u'.',
      u'D',
      u'.',
      u'.',
      u'D',
      u'D',
      u'.',
      u'.',
      u'D',
      u'.',
      u'.',
      u'D',
      u'D',
      u'D',
      u'.'],
     u'rankscore': 0.99768,
     u'score': [-6.7,
      -6.7,
      None,
      None,
      None,
      None,
      -6.7,
      None,
      None,
      -6.7,
      -6.7,
      None,
      None,
      -6.7,
      None,
      None,
      -6.7,
      -6.7,
      -6.7,
      None]},
    u'fathmm-mkl': {u'coding_group': u'AEFDGBHI',
     u'coding_pred': u'D',
     u'coding_rankscore': 0.99134,
     u'coding_score': 0.99744},
    u'genename': u'TP53',
    u'gerp++': {u'nr': 5.48, u'rs': 5.48, u'rs_rankscore': 0.80555},
    u'gm12878': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.74317,
     u'fitcons_score': 0.702456},
    u'h1-hesc': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.64003,
     u'fitcons_score': 0.697927},
    u'hg18': {u'end': 7519257, u'start': 7519257},
    u'hg19': {u'end': 7578532, u'start': 7578532},
    u'hg38': {u'end': 7675214, u'start': 7675214},
    u'huvec': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.98419,
     u'fitcons_score': 0.735409},
    u'integrated': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.85317,
     u'fitcons_score': 0.722319},
    u'interpro_domain': [u'p53, DNA-binding domain',
     u'p53-like transcription factor, DNA-binding',
     u'p53/RUNT-type transcription factor, DNA-binding domain'],
    u'lrt': {u'converted_rankscore': 0.55863,
     u'omega': 0.072317,
     u'pred': u'D',
     u'score': 3.6e-05},
    u'metalr': {u'pred': u'D', u'rankscore': 0.99123, u'score': 0.972},
    u'metasvm': {u'pred': u'D', u'rankscore': 0.99543, u'score': 1.0972},
    u'mutationassessor': {u'pred': u'N', u'rankscore': 0.08161, u'score': 0},
    u'mutationtaster': {u'AAE': u'M133T',
     u'converted_rankscore': 0.38995,
     u'model': u'simple_aae',
     u'pred': u'A',
     u'score': 0.973129},
    u'phastcons': {u'20way': {u'mammalian': 0.996,
      u'mammalian_rankscore': 0.62353},
     u'7way': {u'vertebrate': 0.989, u'vertebrate_rankscore': 0.5315}},
    u'phylo': {u'p20way': {u'mammalian': 1.199,
      u'mammalian_rankscore': 0.95998},
     u'p7way': {u'vertebrate': 1.062, u'vertebrate_rankscore': 0.92612}},
    u'polyphen2': {u'hdiv': {u'pred': [u'P',
       u'B',
       u'B',
       u'B',
       u'B',
       u'B',
       u'P'],
      u'rankscore': 0.39305,
      u'score': [0.551, 0.002, 0.004, 0.044, 0.001, 0.003, 0.674]},
     u'hvar': {u'pred': [u'P', u'B', u'B', u'P', u'B', u'B', u'P'],
      u'rankscore': 0.59325,
      u'score': [0.804, 0.11, 0.062, 0.684, 0.113, 0.176, 0.858]}},
    u'provean': {u'pred': [u'D',
      u'D',
      u'.',
      u'.',
      u'.',
      u'.',
      u'D',
      u'.',
      u'.',
      u'D',
      u'D',
      u'.',
      u'.',
      u'D',
      u'.',
      u'.',
      u'D',
      u'D',
      u'D',
      u'.'],
     u'rankscore': 0.62478,
     u'score': [-2.93,
      -2.92,
      None,
      None,
      None,
      None,
      -3.01,
      None,
      None,
      -2.92,
      -2.92,
      None,
      None,
      -3.01,
      None,
      None,
      -2.76,
      -2.92,
      -2.96,
      None]},
    u'ref': u'A',
    u'reliability_index': 9,
    u'rsid': u'rs28934873',
    u'sift': {u'converted_rankscore': 0.91219,
     u'pred': [u'D',
      u'D',
      u'.',
      u'.',
      u'.',
      u'.',
      u'D',
      u'.',
      u'.',
      u'D',
      u'D',
      u'.',
      u'.',
      u'D',
      u'.',
      u'.',
      u'D',
      u'D',
      u'D',
      u'.'],
     u'score': [0.0,
      0.0,
      None,
      None,
      None,
      None,
      0.0,
      None,
      None,
      0.0,
      0.0,
      None,
      None,
      0.0,
      None,
      None,
      0.0,
      0.0,
      0.001,
      None]},
    u'siphy_29way': {u'logodds': 13.8301,
     u'logodds_rankscore': 0.62644,
     u'pi': {u'a': 1.0, u'c': 0.0, u'g': 0.0, u't': 0.0}},
    u'uniprot': [{u'acc': u'B4E095', u'pos': u'94'},
     {u'acc': u'P04637-2', u'pos': u'133'},
     {u'acc': u'P04637-3', u'pos': u'133'},
     {u'acc': u'E9PFT5', u'pos': u'40'},
     {u'acc': u'P04637', u'pos': u'133'},
     {u'acc': u'Q1MSW8', u'pos': u'133'},
     {u'acc': u'E7EQX7', u'pos': u'133'}]},
   u'dbsnp': {u'allele_origin': u'germline',
    u'alleles': [{u'allele': u'A'}, {u'allele': u'G'}],
    u'alt': u'G',
    u'chrom': u'17',
    u'class': u'SNV',
    u'dbsnp_build': 133,
    u'flags': [u'ASP',
     u'LSD',
     u'NSM',
     u'PM',
     u'PMC',
     u'REF',
     u'RV',
     u'S3D',
     u'U5'],
    u'gene': {u'geneid': u'7157', u'symbol': u'TP53'},
    u'hg19': {u'end': 7578533, u'start': 7578532},
    u'ref': u'A',
    u'rsid': u'rs28934873',
    u'validated': False,
    u'var_subtype': u'ts',
    u'vartype': u'snp'},
   u'mutdb': {u'alt': u'C',
    u'chrom': u'17',
    u'cosmic_id': u'43723',
    u'hg19': {u'end': 7578532, u'start': 7578532},
    u'mutpred_score': 0.74,
    u'ref': u'T',
    u'rsid': u'rs28934873',
    u'strand': u'm'},
   u'snpeff': {u'ann': [{u'cdna': {u'length': u'2271', u'position': u'280'},
      u'cds': {u'length': u'786', u'position': u'2'},
      u'effect': u'start_lost',
      u'feature_id': u'NM_001126115.1',
      u'feature_type': u'transcript',
      u'gene_id': u'TP53',
      u'gene_name': u'TP53',
      u'hgvs_c': u'c.2T>C',
      u'hgvs_p': u'p.Met1?',
      u'protein': {u'length': u'261', u'position': u'1'},
      u'putative_impact': u'HIGH',
      u'rank': u'1',
      u'total': u'7',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'2404', u'position': u'280'},
      u'cds': {u'length': u'630', u'position': u'2'},
      u'effect': u'start_lost',
      u'feature_id': u'NM_001126116.1',
      u'feature_type': u'transcript',
      u'gene_id': u'TP53',
      u'gene_name': u'TP53',
      u'hgvs_c': u'c.2T>C',
      u'hgvs_p': u'p.Met1?',
      u'protein': {u'length': u'209', u'position': u'1'},
      u'putative_impact': u'HIGH',
      u'rank': u'1',
      u'total': u'8',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'2331', u'position': u'280'},
      u'cds': {u'length': u'645', u'position': u'2'},
      u'effect': u'start_lost',
      u'feature_id': u'NM_001126117.1',
      u'feature_type': u'transcript',
      u'gene_id': u'TP53',
      u'gene_name': u'TP53',
      u'hgvs_c': u'c.2T>C',
      u'hgvs_p': u'p.Met1?',
      u'protein': {u'length': u'214', u'position': u'1'},
      u'putative_impact': u'HIGH',
      u'rank': u'1',
      u'total': u'8',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'2591', u'position': u'600'},
      u'cds': {u'length': u'1182', u'position': u'398'},
      u'effect': u'missense_variant',
      u'feature_id': u'NM_000546.5',
      u'feature_type': u'transcript',
      u'gene_id': u'TP53',
      u'gene_name': u'TP53',
      u'hgvs_c': u'c.398T>C',
      u'hgvs_p': u'p.Met133Thr',
      u'protein': {u'length': u'393', u'position': u'133'},
      u'putative_impact': u'MODERATE',
      u'rank': u'5',
      u'total': u'11',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'2588', u'position': u'597'},
      u'cds': {u'length': u'1182', u'position': u'398'},
      u'effect': u'missense_variant',
      u'feature_id': u'NM_001126112.2',
      u'feature_type': u'transcript',
      u'gene_id': u'TP53',
      u'gene_name': u'TP53',
      u'hgvs_c': u'c.398T>C',
      u'hgvs_p': u'p.Met133Thr',
      u'protein': {u'length': u'393', u'position': u'133'},
      u'putative_impact': u'MODERATE',
      u'rank': u'5',
      u'total': u'11',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'2651', u'position': u'600'},
      u'cds': {u'length': u'1041', u'position': u'398'},
      u'effect': u'missense_variant',
      u'feature_id': u'NM_001126113.2',
      u'feature_type': u'transcript',
      u'gene_id': u'TP53',
      u'gene_name': u'TP53',
      u'hgvs_c': u'c.398T>C',
      u'hgvs_p': u'p.Met133Thr',
      u'protein': {u'length': u'346', u'position': u'133'},
      u'putative_impact': u'MODERATE',
      u'rank': u'5',
      u'total': u'12',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'2724', u'position': u'600'},
      u'cds': {u'length': u'1026', u'position': u'398'},
      u'effect': u'missense_variant',
      u'feature_id': u'NM_001126114.2',
      u'feature_type': u'transcript',
      u'gene_id': u'TP53',
      u'gene_name': u'TP53',
      u'hgvs_c': u'c.398T>C',
      u'hgvs_p': u'p.Met133Thr',
      u'protein': {u'length': u'341', u'position': u'133'},
      u'putative_impact': u'MODERATE',
      u'rank': u'5',
      u'total': u'12',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'2708', u'position': u'717'},
      u'cds': {u'length': u'1065', u'position': u'281'},
      u'effect': u'missense_variant',
      u'feature_id': u'NM_001126118.1',
      u'feature_type': u'transcript',
      u'gene_id': u'TP53',
      u'gene_name': u'TP53',
      u'hgvs_c': u'c.281T>C',
      u'hgvs_p': u'p.Met94Thr',
      u'protein': {u'length': u'354', u'position': u'94'},
      u'putative_impact': u'MODERATE',
      u'rank': u'4',
      u'total': u'10',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'2651', u'position': u'600'},
      u'cds': {u'length': u'924', u'position': u'281'},
      u'effect': u'missense_variant',
      u'feature_id': u'NM_001276695.1',
      u'feature_type': u'transcript',
      u'gene_id': u'TP53',
      u'gene_name': u'TP53',
      u'hgvs_c': u'c.281T>C',
      u'hgvs_p': u'p.Met94Thr',
      u'protein': {u'length': u'307', u'position': u'94'},
      u'putative_impact': u'MODERATE',
      u'rank': u'5',
      u'total': u'12',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'2724', u'position': u'600'},
      u'cds': {u'length': u'909', u'position': u'281'},
      u'effect': u'missense_variant',
      u'feature_id': u'NM_001276696.1',
      u'feature_type': u'transcript',
      u'gene_id': u'TP53',
      u'gene_name': u'TP53',
      u'hgvs_c': u'c.281T>C',
      u'hgvs_p': u'p.Met94Thr',
      u'protein': {u'length': u'302', u'position': u'94'},
      u'putative_impact': u'MODERATE',
      u'rank': u'5',
      u'total': u'12',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'2591', u'position': u'600'},
      u'cds': {u'length': u'1065', u'position': u'281'},
      u'effect': u'missense_variant',
      u'feature_id': u'NM_001276760.1',
      u'feature_type': u'transcript',
      u'gene_id': u'TP53',
      u'gene_name': u'TP53',
      u'hgvs_c': u'c.281T>C',
      u'hgvs_p': u'p.Met94Thr',
      u'protein': {u'length': u'354', u'position': u'94'},
      u'putative_impact': u'MODERATE',
      u'rank': u'5',
      u'total': u'11',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'2588', u'position': u'597'},
      u'cds': {u'length': u'1065', u'position': u'281'},
      u'effect': u'missense_variant',
      u'feature_id': u'NM_001276761.1',
      u'feature_type': u'transcript',
      u'gene_id': u'TP53',
      u'gene_name': u'TP53',
      u'hgvs_c': u'c.281T>C',
      u'hgvs_p': u'p.Met94Thr',
      u'protein': {u'length': u'354', u'position': u'94'},
      u'putative_impact': u'MODERATE',
      u'rank': u'5',
      u'total': u'11',
      u'transcript_biotype': u'Coding'},
     {u'distance_to_feature': u'80',
      u'effect': u'5_prime_UTR_variant',
      u'feature_id': u'NM_001276697.1',
      u'feature_type': u'transcript',
      u'gene_id': u'TP53',
      u'gene_name': u'TP53',
      u'hgvs_c': u'c.-80T>C',
      u'putative_impact': u'MODIFIER',
      u'rank': u'1',
      u'total': u'7',
      u'transcript_biotype': u'Coding'},
     {u'distance_to_feature': u'80',
      u'effect': u'5_prime_UTR_variant',
      u'feature_id': u'NM_001276698.1',
      u'feature_type': u'transcript',
      u'gene_id': u'TP53',
      u'gene_name': u'TP53',
      u'hgvs_c': u'c.-80T>C',
      u'putative_impact': u'MODIFIER',
      u'rank': u'1',
      u'total': u'8',
      u'transcript_biotype': u'Coding'},
     {u'distance_to_feature': u'80',
      u'effect': u'5_prime_UTR_variant',
      u'feature_id': u'NM_001276699.1',
      u'feature_type': u'transcript',
      u'gene_id': u'TP53',
      u'gene_name': u'TP53',
      u'hgvs_c': u'c.-80T>C',
      u'putative_impact': u'MODIFIER',
      u'rank': u'1',
      u'total': u'8',
      u'transcript_biotype': u'Coding'}],
    u'lof': {u'gene_id': u'TP53',
     u'gene_name': u'TP53',
     u'number_of_transcripts_in_gene': u'15',
     u'percent_of_transcripts_affected': u'0.20'}},
   u'vcf': {u'alt': u'G', u'position': u'7578532', u'ref': u'A'}}],
 u'max_score': 16.53367,
 u'took': 21,
 u'total': 1}
  • Now, let's assume you are working on cancer genomics and BRCA1 is your target gene. If you want to get all annotation information of variants located on BRCA1 and recorded in ClinVar, you can pass clinvar gene symbol parameter to the query method.
In [11]:
out = mv.query('clinvar.gene.symbol:BRCA1')
By default, the output lists the top 10 hits among 3532 unique variants recorded in ClinVar related to BRCA1. 
In [12]:
out
Out[12]:
{u'hits': [{u'_id': u'NM_007294.3:c.4358-?_5277+?del',
   u'_score': 12.69064,
   u'clinvar': {u'allele_id': 94606,
    u'chrom': u'17',
    u'coding_hgvs_only': True,
    u'cytogenic': u'17q21.31',
    u'gene': {u'id': u'672', u'symbol': u'BRCA1'},
    u'hgvs': {u'coding': [u'LRG_292t1:c.4358-?_5277+?del',
      u'NM_007294.3:c.4358-?_5277+?del'],
     u'genomic': [u'LRG_292:g.(?_141370_160932_?)del',
      u'NC_000017.11:g.(?_43057052)_(43076614_?)del',
      u'NC_000017.10:g.(?_41209069)_(41228631_?)del']},
    u'rcv': [{u'accession': u'RCV000119187',
      u'clinical_significance': u'Pathogenic',
      u'conditions': {u'identifiers': {u'medgen': u'C0677776'},
       u'name': u'BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer (HBOC)',
       u'synonyms': [u'q', u'Hereditary breast and ovarian cancer syndrome']},
      u'last_evaluated': u'2014-03-27',
      u'number_submitters': 1,
      u'origin': u'germline',
      u'preferred_name': u'NM_007294.3(BRCA1):c.4358-?_5277+?del',
      u'review_status': u'no assertion criteria provided'},
     {u'accession': u'RCV000074593',
      u'clinical_significance': u'Pathogenic',
      u'conditions': {u'identifiers': {u'medgen': u'C0346153',
        u'omim': u'114480'},
       u'name': u'Familial cancer of breast',
       u'synonyms': [u'CHEK2-Related Breast Cancer',
        u'BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer']},
      u'number_submitters': 1,
      u'origin': u'germline',
      u'preferred_name': u'NM_007294.3(BRCA1):c.4358-?_5277+?del',
      u'review_status': u'criteria provided, single submitter'}],
    u'type': u'Deletion',
    u'variant_id': 89063}},
  {u'_id': u'chr17:g.41197590_41197593del',
   u'_score': 12.69064,
   u'clinvar': {u'allele_id': 102794,
    u'alt': u'-',
    u'chrom': u'17',
    u'cytogenic': u'17q21.31',
    u'gene': {u'id': u'672', u'symbol': u'BRCA1'},
    u'hg19': {u'end': 41197593, u'start': 41197590},
    u'hg38': {u'end': 43045576, u'start': 43045573},
    u'hgvs': {u'coding': [u'LRG_292t1:c.*102_*105delCTGT',
      u'NM_007294.3:c.*102_*105delCTGT'],
     u'genomic': [u'LRG_292:g.172408_172411delCTGT',
      u'NG_005905.2:g.172408_172411delCTGT',
      u'NC_000017.11:g.43045573_43045576delACAG',
      u'NC_000017.10:g.41197590_41197593delACAG']},
    u'rcv': {u'accession': u'RCV000083012',
     u'clinical_significance': u'Pathogenic',
     u'conditions': {u'age_of_onset': u'All ages',
      u'identifiers': {u'medgen': u'C2676676',
       u'omim': u'604370',
       u'orphanet': u'145'},
      u'name': u'Breast-ovarian cancer, familial 1 (BROVCA1)',
      u'synonyms': [u'BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1',
       u'OVARIAN CANCER, SUSCEPTIBILITY TO',
       u'BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1',
       u'Breast cancer, familial 1',
       u'hereditary breast and ovarian cancer, BROVCA1',
       u'Breast-ovarian cancer, familial, 1']},
     u'last_evaluated': u'2011-10-17',
     u'number_submitters': 1,
     u'origin': u'germline',
     u'preferred_name': u'NM_007294.3(BRCA1):c.*102_*105delCTGT',
     u'review_status': u'no assertion criteria provided'},
    u'ref': u'ACAG',
    u'rsid': u'rs431825382',
    u'type': u'Deletion',
    u'variant_id': 96891},
   u'snpeff': {u'ann': [{u'distance_to_feature': u'102',
      u'effect': u'3_prime_UTR_variant',
      u'feature_id': u'NM_007300.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.*102_*105delCTGT',
      u'putative_impact': u'MODIFIER',
      u'rank': u'24',
      u'total': u'24',
      u'transcript_biotype': u'Coding'},
     {u'distance_to_feature': u'102',
      u'effect': u'3_prime_UTR_variant',
      u'feature_id': u'NM_007298.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.*102_*105delCTGT',
      u'putative_impact': u'MODIFIER',
      u'rank': u'22',
      u'total': u'22',
      u'transcript_biotype': u'Coding'},
     {u'distance_to_feature': u'102',
      u'effect': u'3_prime_UTR_variant',
      u'feature_id': u'NM_007297.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.*102_*105delCTGT',
      u'putative_impact': u'MODIFIER',
      u'rank': u'22',
      u'total': u'22',
      u'transcript_biotype': u'Coding'},
     {u'distance_to_feature': u'208',
      u'effect': u'3_prime_UTR_variant',
      u'feature_id': u'NM_007299.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.*208_*211delCTGT',
      u'putative_impact': u'MODIFIER',
      u'rank': u'22',
      u'total': u'22',
      u'transcript_biotype': u'Coding'},
     {u'distance_to_feature': u'102',
      u'effect': u'3_prime_UTR_variant',
      u'feature_id': u'NM_007294.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.*102_*105delCTGT',
      u'putative_impact': u'MODIFIER',
      u'rank': u'23',
      u'total': u'23',
      u'transcript_biotype': u'Coding'},
     {u'effect': u'non_coding_exon_variant',
      u'feature_id': u'NR_027676.1',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'n.5830_5833delCTGT',
      u'putative_impact': u'MODIFIER',
      u'rank': u'23',
      u'total': u'23',
      u'transcript_biotype': u'Noncoding'}]},
   u'vcf': {u'alt': u'G', u'position': u'41197589', u'ref': u'GACAG'}},
  {u'_id': u'chr17:g.41197737C>G',
   u'_score': 12.69064,
   u'cadd': {u'_license': u'http://goo.gl/bkpNhq',
    u'alt': u'G',
    u'anc': u'C',
    u'annotype': u'CodingTranscript',
    u'bstatistic': 116,
    u'chmm': {u'bivflnk': 0.0,
     u'enh': 0.008,
     u'enhbiv': 0.0,
     u'het': 0.0,
     u'quies': 0.299,
     u'reprpc': 0.0,
     u'reprpcwk': 0.0,
     u'tssa': 0.0,
     u'tssaflnk': 0.0,
     u'tssbiv': 0.0,
     u'tx': 0.205,
     u'txflnk': 0.0,
     u'txwk': 0.48,
     u'znfrpts': 0.0},
    u'chrom': 17,
    u'consdetail': u'synonymous',
    u'consequence': u'SYNONYMOUS',
    u'consscore': 5,
    u'cpg': 0.01,
    u'dna': {u'helt': 1.78, u'mgw': 0.48, u'prot': -0.7, u'roll': -0.17},
    u'encode': {u'exp': 371.32,
     u'h3k27ac': 12.76,
     u'h3k4me1': 3.0,
     u'h3k4me3': 3.0,
     u'nucleo': 1.3},
    u'exon': u'24/24',
    u'fitcons': 0.723164,
    u'gc': 0.6,
    u'gene': {u'ccds_id': u'CCDS11456.2',
     u'cds': {u'cdna_pos': 5845,
      u'cds_pos': 5613,
      u'rel_cdna_pos': 0.98,
      u'rel_cds_pos': 0.99},
     u'feature_id': u'ENST00000471181',
     u'gene_id': u'ENSG00000012048',
     u'genename': u'BRCA1',
     u'prot': {u'domain': u'ndomain',
      u'protpos': 1871,
      u'rel_prot_pos': 0.99}},
    u'gerp': {u'n': 5.32, u'rs': 844.9, u'rs_pval': 8.78912e-51, u's': 4.33},
    u'isderived': u'TRUE',
    u'isknownvariant': u'FALSE',
    u'istv': u'TRUE',
    u'length': 0,
    u'mapability': {u'20bp': 0.5, u'35bp': 1},
    u'min_dist_tse': 42,
    u'min_dist_tss': 78396,
    u'mirsvr': {u'aln': 148, u'e': -24.01, u'score': -0.2148},
    u'mutindex': 8,
    u'naa': u'L',
    u'oaa': u'L',
    u'phast_cons': {u'mammalian': 1.0, u'primate': 0.997, u'vertebrate': 1.0},
    u'phred': 12.85,
    u'phylop': {u'mammalian': 2.766, u'primate': 0.559, u'vertebrate': 1.674},
    u'pos': 41197737,
    u'rawscore': 1.4117,
    u'ref': u'C',
    u'segway': u'TF2',
    u'type': u'SNV'},
   u'clinvar': {u'allele_id': 184867,
    u'alt': u'G',
    u'chrom': u'17',
    u'cytogenic': u'17q21.31',
    u'gene': {u'id': u'672', u'symbol': u'BRCA1'},
    u'hg19': {u'end': 41197737, u'start': 41197737},
    u'hg38': {u'end': 43045720, u'start': 43045720},
    u'hgvs': {u'coding': [u'LRG_292t1:c.5550G>C',
      u'NM_007299.3:c.*64G>C',
      u'NM_007294.3:c.5550G>C'],
     u'genomic': [u'LRG_292:g.172264G>C',
      u'NG_005905.2:g.172264G>C',
      u'NC_000017.11:g.43045720C>G',
      u'NC_000017.10:g.41197737C>G']},
    u'rcv': {u'accession': u'RCV000163767',
     u'clinical_significance': u'Likely benign',
     u'conditions': {u'identifiers': {u'medgen': u'C0027672'},
      u'name': u'Hereditary cancer-predisposing syndrome',
      u'synonyms': u'Neoplastic Syndromes, Hereditary'},
     u'last_evaluated': u'2013-12-19',
     u'number_submitters': 1,
     u'origin': u'germline',
     u'preferred_name': u'NM_007294.3(BRCA1):c.5550G>C (p.Leu1850=)',
     u'review_status': u'criteria provided, single submitter'},
    u'ref': u'C',
    u'rsid': u'rs786201502',
    u'type': u'single nucleotide variant',
    u'variant_id': 184500},
   u'snpeff': {u'ann': [{u'cdna': {u'length': u'7270', u'position': u'5845'},
      u'cds': {u'length': u'5655', u'position': u'5613'},
      u'effect': u'synonymous_variant',
      u'feature_id': u'NM_007300.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.5613G>C',
      u'hgvs_p': u'p.Leu1871Leu',
      u'protein': {u'length': u'1884', u'position': u'1871'},
      u'putative_impact': u'LOW',
      u'rank': u'24',
      u'total': u'24',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'3682', u'position': u'2257'},
      u'cds': {u'length': u'2280', u'position': u'2238'},
      u'effect': u'synonymous_variant',
      u'feature_id': u'NM_007298.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.2238G>C',
      u'hgvs_p': u'p.Leu746Leu',
      u'protein': {u'length': u'759', u'position': u'746'},
      u'putative_impact': u'LOW',
      u'rank': u'22',
      u'total': u'22',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'7115', u'position': u'5690'},
      u'cds': {u'length': u'5451', u'position': u'5409'},
      u'effect': u'synonymous_variant',
      u'feature_id': u'NM_007297.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
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      u'effect': u'synonymous_variant',
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      u'gene_name': u'BRCA1',
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     {u'distance_to_feature': u'64',
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      u'feature_id': u'NM_007299.3',
      u'feature_type': u'transcript',
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     {u'effect': u'non_coding_exon_variant',
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      u'gene_name': u'BRCA1',
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   u'vcf': {u'alt': u'G', u'position': u'41197737', u'ref': u'C'}},
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      u'last_evaluated': u'2013-02-01',
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      u'preferred_name': u'NM_007294.3(BRCA1):c.5511G>A (p.Trp1837Ter)',
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     {u'accession': u'RCV000112692',
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       u'name': u'Breast-ovarian cancer, familial 1 (BROVCA1)',
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        u'BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1',
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        u'Breast-ovarian cancer, familial, 1']},
      u'last_evaluated': u'2006-07-19',
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      u'preferred_name': u'NM_007294.3(BRCA1):c.5511G>A (p.Trp1837Ter)',
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     u'codonpos': 3,
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      u'328',
      u'70',
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      u'1858',
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     u'refcodon': u'TGG'},
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     u'trait': u'Breast-ovarian_cancer\\x2c_familial_1'},
    u'ensembl': {u'geneid': u'ENSG00000012048',
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      u'ENSP00000465818',
      u'ENSP00000467329',
      u'ENSP00000465347',
      u'ENSP00000418775',
      u'ENSP00000418960',
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     u'transcriptid': [u'ENST00000357654',
      u'ENST00000352993',
      u'ENST00000586385',
      u'ENST00000591534',
      u'ENST00000591849',
      u'ENST00000493795',
      u'ENST00000471181',
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     u'coding_pred': u'D',
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     u'coding_score': 0.91246},
    u'genename': u'BRCA1',
    u'gerp++': {u'nr': 5.32, u'rs': 5.32, u'rs_rankscore': 0.75224},
    u'gm12878': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.89268,
     u'fitcons_score': 0.724815},
    u'h1-hesc': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.96044,
     u'fitcons_score': 0.743671},
    u'hg18': {u'end': 38451302, u'start': 38451302},
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    u'huvec': {u'confidence_value': 0,
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     u'fitcons_score': 0.714379},
    u'integrated': {u'confidence_value': 0,
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     u'fitcons_score': 0.732398},
    u'interpro_domain': u'BRCT domain',
    u'lrt': {u'converted_rankscore': 0.49118,
     u'omega': 0.0,
     u'pred': u'D',
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    u'mutationtaster': {u'AAE': [u'W695*',
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      u'W654*',
      u'W686*',
      u'W1541*',
      u'W1837*',
      u'W147*',
      u'W328*',
      u'W70*',
      u'W1790*',
      u'W1858*',
      u'W733*',
      u'W1572*',
      u'.'],
     u'converted_rankscore': 0.81033,
     u'model': [u'complex_aae',
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      u'complex_aae',
      u'complex_aae',
      u'complex_aae',
      u'complex_aae',
      u'complex_aae',
      u'complex_aae',
      u'complex_aae',
      u'complex_aae',
      u'complex_aae',
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     u'score': [1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1]},
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      u'mammalian_rankscore': 0.48811},
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    u'ref': u'C',
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     u'pi': {u'a': 0.0, u'c': 1.0, u'g': 0.0, u't': 0.0}}},
   u'dbsnp': {u'allele_origin': u'unspecified',
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     u'PM',
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     u'U3'],
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   u'snpeff': {u'ann': [{u'cdna': {u'length': u'7270', u'position': u'5806'},
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     {u'cdna': {u'length': u'7115', u'position': u'5651'},
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     {u'distance_to_feature': u'25',
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     {u'effect': u'non_coding_exon_variant',
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   u'vcf': {u'alt': u'T', u'position': u'41197776', u'ref': u'C'}},
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   u'clinvar': {u'allele_id': 70265,
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      u'NM_007294.3:c.5497G>A'],
     u'genomic': [u'LRG_292:g.172211G>A',
      u'NG_005905.2:g.172211G>A',
      u'NC_000017.11:g.43045773C>T',
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    u'rcv': [{u'accession': u'RCV000049017',
      u'clinical_significance': u'not provided',
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        u'omim': u'114480'},
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       u'synonyms': [u'CHEK2-Related Breast Cancer',
        u'BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer']},
      u'last_evaluated': u'2013-02-01',
      u'number_submitters': 1,
      u'origin': u'germline',
      u'preferred_name': u'NM_007294.3(BRCA1):c.5497G>A (p.Val1833Met)',
      u'review_status': u'no assertion provided'},
     {u'accession': u'RCV000077626',
      u'clinical_significance': u'Conflicting interpretations of pathogenicity',
      u'conditions': {u'age_of_onset': u'All ages',
       u'identifiers': {u'medgen': u'C2676676',
        u'omim': u'604370',
        u'orphanet': u'145'},
       u'name': u'Breast-ovarian cancer, familial 1 (BROVCA1)',
       u'synonyms': [u'BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1',
        u'OVARIAN CANCER, SUSCEPTIBILITY TO',
        u'BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1',
        u'Breast cancer, familial 1',
        u'hereditary breast and ovarian cancer, BROVCA1',
        u'Breast-ovarian cancer, familial, 1']},
      u'last_evaluated': u'2012-10-15',
      u'number_submitters': 2,
      u'origin': u'germline',
      u'preferred_name': u'NM_007294.3(BRCA1):c.5497G>A (p.Val1833Met)',
      u'review_status': u'no assertion criteria provided'},
     {u'accession': u'RCV000132307',
      u'clinical_significance': u'Likely pathogenic',
      u'conditions': {u'identifiers': {u'medgen': u'C0027672'},
       u'name': u'Hereditary cancer-predisposing syndrome',
       u'synonyms': u'Neoplastic Syndromes, Hereditary'},
      u'last_evaluated': u'2014-05-02',
      u'number_submitters': 1,
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     u'codonpos': 1,
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      u'324',
      u'66',
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      u'1854',
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     u'trait': u'Hereditary_cancer-predisposing_syndrome'},
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      u'ENST00000591849',
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      u'ENST00000471181',
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     u'fitcons_score': 0.743671},
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     u'fitcons_score': 0.635551},
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      u'V691M',
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      u'simple_aae',
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     u'feature_id': u'ENST00000471181',
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      u'NC_000017.11:g.43045800T>C',
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    u'rcv': [{u'accession': u'RCV000130459',
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       u'name': u'Hereditary cancer-predisposing syndrome',
       u'synonyms': u'Neoplastic Syndromes, Hereditary'},
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    u'provean': {u'pred': [u'N', u'N', u'.', u'.', u'.', u'N', u'.', u'N'],
     u'rankscore': 0.19305,
     u'score': [-0.18, -0.67, None, None, None, -0.18, None, -0.66]},
    u'ref': u'T',
    u'reliability_index': 10,
    u'rsid': u'rs587782026',
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     u'pred': [u'D', u'T', u'.', u'.', u'.', u'D', u'.', u'D'],
     u'score': [0.002, 0.059, None, None, None, 0.002, None, 0.05]},
    u'siphy_29way': {u'logodds': 9.0637,
     u'logodds_rankscore': 0.35344,
     u'pi': {u'a': 0.0, u'c': 0.0, u'g': 0.1856, u't': 0.8144}},
    u'uniprot': [{u'acc': u'B4DES0', u'pos': u'673'},
     {u'acc': u'C6YB45', u'pos': u'134'},
     {u'acc': u'E7ETR2', u'pos': u'719'},
     {u'acc': u'E9PFC7', u'pos': u'1846'},
     {u'acc': u'P38398', u'pos': u'1824'},
     {u'acc': u'P38398-2', u'pos': u'1824'}]},
   u'dbsnp': {u'allele_origin': u'unspecified',
    u'alleles': [{u'allele': u'T'}, {u'allele': u'C'}],
    u'alt': u'C',
    u'chrom': u'17',
    u'class': u'SNV',
    u'dbsnp_build': 142,
    u'flags': [u'ASP', u'LSD', u'NSM', u'PM', u'REF', u'RV'],
    u'gene': {u'geneid': u'672', u'symbol': u'BRCA1'},
    u'hg19': {u'end': 41197818, u'start': 41197817},
    u'ref': u'T',
    u'rsid': u'rs587782026',
    u'validated': False,
    u'var_subtype': u'ts',
    u'vartype': u'snp'},
   u'snpeff': {u'ann': [{u'cdna': {u'length': u'7270', u'position': u'5765'},
      u'cds': {u'length': u'5655', u'position': u'5533'},
      u'effect': u'missense_variant&splice_region_variant',
      u'feature_id': u'NM_007300.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.5533A>G',
      u'hgvs_p': u'p.Ile1845Val',
      u'protein': {u'length': u'1884', u'position': u'1845'},
      u'putative_impact': u'MODERATE',
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     {u'cdna': {u'length': u'3682', u'position': u'2177'},
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      u'effect': u'missense_variant&splice_region_variant',
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      u'feature_type': u'transcript',
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      u'gene_name': u'BRCA1',
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      u'hgvs_p': u'p.Ile720Val',
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      u'putative_impact': u'MODERATE',
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     {u'cdna': {u'length': u'7115', u'position': u'5610'},
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      u'effect': u'missense_variant&splice_region_variant',
      u'feature_id': u'NM_007297.3',
      u'feature_type': u'transcript',
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      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.5329A>G',
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      u'putative_impact': u'MODERATE',
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     {u'cdna': {u'length': u'3783', u'position': u'2278'},
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      u'effect': u'missense_variant&splice_region_variant',
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      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.2084A>G',
      u'hgvs_p': u'p.Asn695Ser',
      u'protein': {u'length': u'699', u'position': u'695'},
      u'putative_impact': u'MODERATE',
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     {u'cdna': {u'length': u'7207', u'position': u'5702'},
      u'cds': {u'length': u'5592', u'position': u'5470'},
      u'effect': u'missense_variant&splice_region_variant',
      u'feature_id': u'NM_007294.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.5470A>G',
      u'hgvs_p': u'p.Ile1824Val',
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     {u'effect': u'splice_region_variant&non_coding_exon_variant',
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      u'gene_name': u'BRCA1',
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      u'transcript_biotype': u'Noncoding'}]},
   u'vcf': {u'alt': u'C', u'position': u'41197817', u'ref': u'T'}},
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      u'rel_cdna_pos': 0.96,
      u'rel_cds_pos': 0.97},
     u'feature_id': u'ENST00000471181',
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    u'isderived': u'TRUE',
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    u'min_dist_tse': 2001,
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   u'clinvar': {u'allele_id': 70244,
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    u'cytogenic': u'17q21.31',
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      u'NM_007294.3:c.5431C>T'],
     u'genomic': [u'LRG_292:g.170305C>T',
      u'NG_005905.2:g.170305C>T',
      u'NC_000017.11:g.43047679G>A',
      u'NC_000017.10:g.41199696G>A']},
    u'rcv': {u'accession': u'RCV000048992',
     u'clinical_significance': u'not provided',
     u'conditions': {u'identifiers': {u'medgen': u'C0346153',
       u'omim': u'114480'},
      u'name': u'Familial cancer of breast',
      u'synonyms': [u'CHEK2-Related Breast Cancer',
       u'BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer']},
     u'last_evaluated': u'2013-02-01',
     u'number_submitters': 1,
     u'origin': u'germline',
     u'preferred_name': u'NM_007294.3(BRCA1):c.5431C>T (p.Gln1811Ter)',
     u'review_status': u'no assertion provided'},
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      u'codonpos': 2,
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      u'ref': u'A',
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     {u'alt': u'X',
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       u'669',
       u'121',
       u'302',
       u'44',
       u'1764',
       u'1832',
       u'707'],
      u'ref': u'Q',
      u'refcodon': u'CAG'}],
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    u'cds_strand': u'-',
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    u'ensembl': {u'geneid': u'ENSG00000012048',
     u'proteinid': u'ENSP00000417148',
     u'transcriptid': u'ENST00000468300'},
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     u'coding_pred': u'D',
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     u'coding_score': 0.81078},
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     u'fitcons_score': 0.724815},
    u'h1-hesc': {u'confidence_value': 0,
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     u'fitcons_score': 0.724815},
    u'hg18': {u'end': 38453222, u'start': 38453222},
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    u'huvec': {u'confidence_value': 0,
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     u'fitcons_score': 0.714379},
    u'integrated': {u'confidence_value': 0,
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     u'fitcons_score': 0.706548},
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    u'mutationtaster': {u'AAE': [u'Q1811*',
      u'Q121*',
      u'Q302*',
      u'Q44*',
      u'Q1764*',
      u'Q1832*',
      u'Q707*',
      u'Q1546*',
      u'Q669*',
      u'Q1572*',
      u'Q628*',
      u'Q660*',
      u'Q1515*',
      u'A682V'],
     u'converted_rankscore': 0.81033,
     u'model': [u'complex_aae',
      u'complex_aae',
      u'complex_aae',
      u'complex_aae',
      u'complex_aae',
      u'complex_aae',
      u'complex_aae',
      u'complex_aae',
      u'complex_aae',
      u'complex_aae',
      u'complex_aae',
      u'complex_aae',
      u'complex_aae',
      u'simple_aae'],
     u'pred': [u'D',
      u'D',
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      u'D',
      u'D',
      u'D',
      u'D',
      u'D',
      u'D',
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      u'D',
      u'D',
      u'D',
      u'N'],
     u'score': [1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 0.998828]},
    u'phastcons': {u'20way': {u'mammalian': 0.979,
      u'mammalian_rankscore': 0.48478},
     u'7way': {u'vertebrate': 0.738, u'vertebrate_rankscore': 0.30575}},
    u'phylo': {u'p20way': {u'mammalian': 0.949,
      u'mammalian_rankscore': 0.53485},
     u'p7way': {u'vertebrate': 0.917, u'vertebrate_rankscore': 0.60462}},
    u'polyphen2': {u'hdiv': {u'pred': u'P',
      u'rankscore': 0.42763,
      u'score': 0.793},
     u'hvar': {u'pred': u'B', u'rankscore': 0.37443, u'score': 0.254}},
    u'provean': {u'pred': u'N', u'rankscore': 0.12864, u'score': -0.35},
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    u'siphy_29way': {u'logodds': 11.2065,
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     u'pi': {u'a': 0.0, u'c': 0.185, u'g': 0.815, u't': 0.0}},
    u'uniprot': {u'acc': u'Q6IN79', u'pos': u'682'}},
   u'dbsnp': {u'allele_origin': u'unspecified',
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    u'alt': u'A',
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    u'hg19': {u'end': 41199697, u'start': 41199696},
    u'ref': u'G',
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    u'validated': False,
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   u'snpeff': {u'ann': [{u'cdna': {u'length': u'7270', u'position': u'5726'},
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      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.5494C>T',
      u'hgvs_p': u'p.Gln1832*',
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      u'putative_impact': u'HIGH',
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     {u'cdna': {u'length': u'7115', u'position': u'5571'},
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      u'effect': u'stop_gained',
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      u'gene_name': u'BRCA1',
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      u'hgvs_p': u'p.Gln1764*',
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     {u'cdna': {u'length': u'7207', u'position': u'5663'},
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      u'effect': u'stop_gained',
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      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.5431C>T',
      u'hgvs_p': u'p.Gln1811*',
      u'protein': {u'length': u'1863', u'position': u'1811'},
      u'putative_impact': u'HIGH',
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     {u'cdna': {u'length': u'3783', u'position': u'2239'},
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      u'effect': u'missense_variant',
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   u'vcf': {u'alt': u'A', u'position': u'41199696', u'ref': u'G'}},
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   u'cadd': {u'_license': u'http://goo.gl/bkpNhq',
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     u'feature_id': u'ENST00000471181',
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    u'isderived': u'TRUE',
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    u'naa': u'V',
    u'oaa': u'V',
    u'phast_cons': {u'mammalian': 0.912,
     u'primate': 0.964,
     u'vertebrate': 0.946},
    u'phred': 15.77,
    u'phylop': {u'mammalian': 0.298, u'primate': 0.457, u'vertebrate': 0.476},
    u'pos': 41199697,
    u'rawscore': 1.929904,
    u'ref': u'C',
    u'segway': u'GE1',
    u'type': u'SNV'},
   u'clinvar': {u'allele_id': 184870,
    u'alt': u'T',
    u'chrom': u'17',
    u'cytogenic': u'17q21.31',
    u'gene': {u'id': u'672', u'symbol': u'BRCA1'},
    u'hg19': {u'end': 41199697, u'start': 41199697},
    u'hg38': {u'end': 43047680, u'start': 43047680},
    u'hgvs': {u'coding': [u'LRG_292t1:c.5430G>A',
      u'NM_007299.3:c.2044G>A',
      u'NM_007294.3:c.5430G>A'],
     u'genomic': [u'LRG_292:g.170304G>A',
      u'NG_005905.2:g.170304G>A',
      u'NC_000017.11:g.43047680C>T',
      u'NC_000017.10:g.41199697C>T']},
    u'rcv': {u'accession': u'RCV000163918',
     u'clinical_significance': u'Likely benign',
     u'conditions': {u'identifiers': {u'medgen': u'C0027672'},
      u'name': u'Hereditary cancer-predisposing syndrome',
      u'synonyms': u'Neoplastic Syndromes, Hereditary'},
     u'last_evaluated': u'2014-10-24',
     u'number_submitters': 1,
     u'origin': u'germline',
     u'preferred_name': u'NM_007294.3(BRCA1):c.5430G>A (p.Val1810=)',
     u'review_status': u'criteria provided, single submitter'},
    u'ref': u'C',
    u'rsid': u'rs786201582',
    u'type': u'single nucleotide variant',
    u'variant_id': 184631},
   u'dbnsfp': {u'aa': {u'alt': u'T',
     u'codonpos': 1,
     u'pos': 682,
     u'ref': u'A',
     u'refcodon': u'GCA'},
    u'alt': u'T',
    u'ancestral_allele': u'C',
    u'cds_strand': u'-',
    u'chrom': u'17',
    u'ensembl': {u'geneid': u'ENSG00000012048',
     u'proteinid': u'ENSP00000417148',
     u'transcriptid': u'ENST00000468300'},
    u'fathmm': {u'pred': u'D', u'rankscore': 0.87129, u'score': -2.23},
    u'fathmm-mkl': {u'coding_group': u'AEFBI',
     u'coding_pred': u'D',
     u'coding_rankscore': 0.30819,
     u'coding_score': 0.60024},
    u'genename': u'BRCA1',
    u'gerp++': {u'nr': 4.98, u'rs': 1.94, u'rs_rankscore': 0.24838},
    u'gm12878': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.89268,
     u'fitcons_score': 0.724815},
    u'h1-hesc': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.87815,
     u'fitcons_score': 0.724815},
    u'hg18': {u'end': 38453223, u'start': 38453223},
    u'hg19': {u'end': 41199697, u'start': 41199697},
    u'hg38': {u'end': 43047680, u'start': 43047680},
    u'huvec': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.83205,
     u'fitcons_score': 0.714379},
    u'integrated': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.72903,
     u'fitcons_score': 0.706548},
    u'metalr': {u'pred': u'T', u'rankscore': 0.78534, u'score': 0.451},
    u'metasvm': {u'pred': u'T', u'rankscore': 0.70167, u'score': -0.4577},
    u'mutationtaster': {u'AAE': [u'.', u'A682T'],
     u'converted_rankscore': 0.81033,
     u'model': [u'without_aae', u'simple_aae'],
     u'pred': [u'D', u'N'],
     u'score': [1, 0.999882]},
    u'phastcons': {u'20way': {u'mammalian': 0.965,
      u'mammalian_rankscore': 0.44841},
     u'7way': {u'vertebrate': 0.72, u'vertebrate_rankscore': 0.30132}},
    u'phylo': {u'p20way': {u'mammalian': 0.848,
      u'mammalian_rankscore': 0.34552},
     u'p7way': {u'vertebrate': 0.871, u'vertebrate_rankscore': 0.44667}},
    u'polyphen2': {u'hdiv': {u'pred': u'B',
      u'rankscore': 0.23782,
      u'score': 0.093},
     u'hvar': {u'pred': u'B', u'rankscore': 0.18147, u'score': 0.021}},
    u'provean': {u'pred': u'N', u'rankscore': 0.0439, u'score': 0.26},
    u'ref': u'C',
    u'reliability_index': 8,
    u'sift': {u'converted_rankscore': 0.91219, u'pred': u'D', u'score': 0.0},
    u'siphy_29way': {u'logodds': 6.8927,
     u'logodds_rankscore': 0.23194,
     u'pi': {u'a': 0.0, u'c': 0.7216, u'g': 0.0, u't': 0.2784}},
    u'uniprot': {u'acc': u'Q6IN79', u'pos': u'682'}},
   u'snpeff': {u'ann': [{u'cdna': {u'length': u'3783', u'position': u'2238'},
      u'cds': {u'length': u'2100', u'position': u'2044'},
      u'effect': u'missense_variant',
      u'feature_id': u'NM_007299.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.2044G>A',
      u'hgvs_p': u'p.Ala682Thr',
      u'protein': {u'length': u'699', u'position': u'682'},
      u'putative_impact': u'MODERATE',
      u'rank': u'21',
      u'total': u'22',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'7270', u'position': u'5725'},
      u'cds': {u'length': u'5655', u'position': u'5493'},
      u'effect': u'synonymous_variant',
      u'feature_id': u'NM_007300.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.5493G>A',
      u'hgvs_p': u'p.Val1831Val',
      u'protein': {u'length': u'1884', u'position': u'1831'},
      u'putative_impact': u'LOW',
      u'rank': u'23',
      u'total': u'24',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'3682', u'position': u'2137'},
      u'cds': {u'length': u'2280', u'position': u'2118'},
      u'effect': u'synonymous_variant',
      u'feature_id': u'NM_007298.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.2118G>A',
      u'hgvs_p': u'p.Val706Val',
      u'protein': {u'length': u'759', u'position': u'706'},
      u'putative_impact': u'LOW',
      u'rank': u'21',
      u'total': u'22',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'7115', u'position': u'5570'},
      u'cds': {u'length': u'5451', u'position': u'5289'},
      u'effect': u'synonymous_variant',
      u'feature_id': u'NM_007297.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.5289G>A',
      u'hgvs_p': u'p.Val1763Val',
      u'protein': {u'length': u'1816', u'position': u'1763'},
      u'putative_impact': u'LOW',
      u'rank': u'21',
      u'total': u'22',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'7207', u'position': u'5662'},
      u'cds': {u'length': u'5592', u'position': u'5430'},
      u'effect': u'synonymous_variant',
      u'feature_id': u'NM_007294.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.5430G>A',
      u'hgvs_p': u'p.Val1810Val',
      u'protein': {u'length': u'1863', u'position': u'1810'},
      u'putative_impact': u'LOW',
      u'rank': u'22',
      u'total': u'23',
      u'transcript_biotype': u'Coding'},
     {u'effect': u'non_coding_exon_variant',
      u'feature_id': u'NR_027676.1',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'n.5566G>A',
      u'putative_impact': u'MODIFIER',
      u'rank': u'22',
      u'total': u'23',
      u'transcript_biotype': u'Noncoding'}]},
   u'vcf': {u'alt': u'T', u'position': u'41199697', u'ref': u'C'}},
  {u'_id': u'chr17:g.41199697_41199702del',
   u'_score': 12.69064,
   u'clinvar': {u'allele_id': 70241,
    u'alt': u'-',
    u'chrom': u'17',
    u'cytogenic': u'17q21.31',
    u'gene': {u'id': u'672', u'symbol': u'BRCA1'},
    u'hg19': {u'end': 41199702, u'start': 41199697},
    u'hg38': {u'end': 43047685, u'start': 43047680},
    u'hgvs': {u'coding': [u'LRG_292t1:c.5425_5430delGTTGTG',
      u'NM_007294.3:c.5425_5430delGTTGTG'],
     u'genomic': [u'LRG_292:g.170299_170304delGTTGTG',
      u'NG_005905.2:g.170299_170304delGTTGTG',
      u'NC_000017.11:g.43047680_43047685delCACAAC',
      u'NC_000017.10:g.41199697_41199702delCACAAC']},
    u'rcv': [{u'accession': u'RCV000048989',
      u'clinical_significance': u'not provided',
      u'conditions': {u'identifiers': {u'medgen': u'C0346153',
        u'omim': u'114480'},
       u'name': u'Familial cancer of breast',
       u'synonyms': [u'CHEK2-Related Breast Cancer',
        u'BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer']},
      u'last_evaluated': u'2013-02-01',
      u'number_submitters': 1,
      u'origin': u'germline',
      u'preferred_name': u'NM_007294.3(BRCA1):c.5425_5430delGTTGTG (p.Val1809_Val1810del)',
      u'review_status': u'no assertion provided'},
     {u'accession': u'RCV000112652',
      u'clinical_significance': u'Uncertain significance',
      u'conditions': {u'age_of_onset': u'All ages',
       u'identifiers': {u'medgen': u'C2676676',
        u'omim': u'604370',
        u'orphanet': u'145'},
       u'name': u'Breast-ovarian cancer, familial 1 (BROVCA1)',
       u'synonyms': [u'BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1',
        u'OVARIAN CANCER, SUSCEPTIBILITY TO',
        u'BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1',
        u'Breast cancer, familial 1',
        u'hereditary breast and ovarian cancer, BROVCA1',
        u'Breast-ovarian cancer, familial, 1']},
      u'last_evaluated': u'1999-04-06',
      u'number_submitters': 1,
      u'origin': u'germline',
      u'preferred_name': u'NM_007294.3(BRCA1):c.5425_5430delGTTGTG (p.Val1809_Val1810del)',
      u'review_status': u'no assertion criteria provided'}],
    u'ref': u'CACAAC',
    u'rsid': u'rs80358348',
    u'type': u'Deletion',
    u'variant_id': 55574},
   u'dbsnp': {u'allele_origin': u'unspecified',
    u'alleles': [{u'allele': u'GCACAAC'}, {u'allele': u'G'}],
    u'alt': u'G',
    u'chrom': u'17',
    u'class': u'DIV',
    u'dbsnp_build': 132,
    u'flags': [u'ASP', u'LSD', u'PM', u'RV', u'SLO'],
    u'gene': {u'geneid': u'672', u'symbol': u'BRCA1'},
    u'hg19': {u'end': 41199702, u'start': 41199697},
    u'ref': u'GCACAAC',
    u'rsid': u'rs80358348',
    u'validated': False,
    u'var_subtype': u'del',
    u'vartype': u'indel'},
   u'snpeff': {u'ann': [{u'cdna': {u'length': u'7270', u'position': u'5725'},
      u'cds': {u'length': u'5655', u'position': u'5488'},
      u'effect': u'inframe_deletion',
      u'feature_id': u'NM_007300.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.5488_5493delGTTGTG',
      u'hgvs_p': u'p.Val1830_Val1831del',
      u'protein': {u'length': u'1884', u'position': u'1830'},
      u'putative_impact': u'MODERATE',
      u'rank': u'23',
      u'total': u'24',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'3682', u'position': u'2137'},
      u'cds': {u'length': u'2280', u'position': u'2113'},
      u'effect': u'inframe_deletion',
      u'feature_id': u'NM_007298.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.2113_2118delGTTGTG',
      u'hgvs_p': u'p.Val705_Val706del',
      u'protein': {u'length': u'759', u'position': u'705'},
      u'putative_impact': u'MODERATE',
      u'rank': u'21',
      u'total': u'22',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'7115', u'position': u'5570'},
      u'cds': {u'length': u'5451', u'position': u'5284'},
      u'effect': u'inframe_deletion',
      u'feature_id': u'NM_007297.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.5284_5289delGTTGTG',
      u'hgvs_p': u'p.Val1762_Val1763del',
      u'protein': {u'length': u'1816', u'position': u'1762'},
      u'putative_impact': u'MODERATE',
      u'rank': u'21',
      u'total': u'22',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'7207', u'position': u'5662'},
      u'cds': {u'length': u'5592', u'position': u'5425'},
      u'effect': u'inframe_deletion',
      u'feature_id': u'NM_007294.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.5425_5430delGTTGTG',
      u'hgvs_p': u'p.Val1809_Val1810del',
      u'protein': {u'length': u'1863', u'position': u'1809'},
      u'putative_impact': u'MODERATE',
      u'rank': u'22',
      u'total': u'23',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'3783', u'position': u'2238'},
      u'cds': {u'length': u'2100', u'position': u'2039'},
      u'effect': u'disruptive_inframe_deletion',
      u'feature_id': u'NM_007299.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.2039_2044delGTTGTG',
      u'hgvs_p': u'p.Gly680_Cys681del',
      u'protein': {u'length': u'699', u'position': u'680'},
      u'putative_impact': u'MODERATE',
      u'rank': u'21',
      u'total': u'22',
      u'transcript_biotype': u'Coding'},
     {u'effect': u'non_coding_exon_variant',
      u'feature_id': u'NR_027676.1',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'n.5561_5566delGTTGTG',
      u'putative_impact': u'MODIFIER',
      u'rank': u'22',
      u'total': u'23',
      u'transcript_biotype': u'Noncoding'}]},
   u'vcf': {u'alt': u'G', u'position': u'41199696', u'ref': u'GCACAAC'}},
  {u'_id': u'chr17:g.41199702C>A',
   u'_score': 12.69064,
   u'cadd': {u'_license': u'http://goo.gl/bkpNhq',
    u'alt': u'A',
    u'anc': u'C',
    u'annotype': u'CodingTranscript',
    u'bstatistic': 116,
    u'chmm': {u'bivflnk': 0.0,
     u'enh': 0.0,
     u'enhbiv': 0.0,
     u'het': 0.0,
     u'quies': 0.276,
     u'reprpc': 0.0,
     u'reprpcwk': 0.0,
     u'tssa': 0.0,
     u'tssaflnk': 0.0,
     u'tssbiv': 0.0,
     u'tx': 0.213,
     u'txflnk': 0.0,
     u'txwk': 0.512,
     u'znfrpts': 0.0},
    u'chrom': 17,
    u'consdetail': u'missense',
    u'consequence': u'NON_SYNONYMOUS',
    u'consscore': 7,
    u'cpg': 0.0,
    u'dna': {u'helt': 0.87, u'mgw': -0.33, u'prot': -5.48, u'roll': -1.99},
    u'dst2splice': 19,
    u'dst2spltype': u'ACCEPTOR',
    u'encode': {u'exp': 244.65,
     u'h3k27ac': 5.0,
     u'h3k4me1': 3.0,
     u'h3k4me3': 6.0,
     u'nucleo': 2.4},
    u'exon': u'23/24',
    u'fitcons': 0.701516,
    u'gc': 0.52,
    u'gene': {u'ccds_id': u'CCDS11456.2',
     u'cds': {u'cdna_pos': 5720,
      u'cds_pos': 5488,
      u'rel_cdna_pos': 0.96,
      u'rel_cds_pos': 0.97},
     u'feature_id': u'ENST00000471181',
     u'gene_id': u'ENSG00000012048',
     u'genename': u'BRCA1',
     u'prot': {u'domain': u'ndomain',
      u'protpos': 1830,
      u'rel_prot_pos': 0.97}},
    u'gerp': {u'n': 4.98, u'rs': 137.8, u'rs_pval': 2.45126e-14, u's': 2.97},
    u'grantham': 50,
    u'isderived': u'TRUE',
    u'isknownvariant': u'FALSE',
    u'istv': u'TRUE',
    u'length': 0,
    u'mapability': {u'20bp': 1, u'35bp': 1},
    u'min_dist_tse': 2007,
    u'min_dist_tss': 76431,
    u'mutindex': 32,
    u'naa': u'F',
    u'oaa': u'V',
    u'phast_cons': {u'mammalian': 0.983,
     u'primate': 0.882,
     u'vertebrate': 0.991},
    u'phred': 32,
    u'phylop': {u'mammalian': 0.675, u'primate': 0.457, u'vertebrate': 0.903},
    u'polyphen': {u'cat': u'probably_damaging', u'val': 0.97},
    u'pos': 41199702,
    u'rawscore': 6.745557,
    u'ref': u'C',
    u'segway': u'GE1',
    u'sift': {u'cat': u'deleterious', u'val': 0},
    u'type': u'SNV'},
   u'clinvar': {u'allele_id': 70240,
    u'alt': u'A',
    u'chrom': u'17',
    u'cytogenic': u'17q21.31',
    u'gene': {u'id': u'672', u'symbol': u'BRCA1'},
    u'hg19': {u'end': 41199702, u'start': 41199702},
    u'hg38': {u'end': 43047685, u'start': 43047685},
    u'hgvs': {u'coding': [u'LRG_292t1:c.5425G>T', u'NM_007294.3:c.5425G>T'],
     u'genomic': [u'LRG_292:g.170299G>T',
      u'NG_005905.2:g.170299G>T',
      u'NC_000017.11:g.43047685C>A',
      u'NC_000017.10:g.41199702C>A']},
    u'rcv': [{u'accession': u'RCV000048988',
      u'clinical_significance': u'not provided',
      u'conditions': {u'identifiers': {u'medgen': u'C0346153',
        u'omim': u'114480'},
       u'name': u'Familial cancer of breast',
       u'synonyms': [u'CHEK2-Related Breast Cancer',
        u'BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer']},
      u'last_evaluated': u'2013-02-01',
      u'number_submitters': 1,
      u'origin': u'germline',
      u'preferred_name': u'NM_007294.3(BRCA1):c.5425G>T (p.Val1809Phe)',
      u'review_status': u'no assertion provided'},
     {u'accession': u'RCV000112651',
      u'clinical_significance': u'Uncertain significance',
      u'conditions': {u'age_of_onset': u'All ages',
       u'identifiers': {u'medgen': u'C2676676',
        u'omim': u'604370',
        u'orphanet': u'145'},
       u'name': u'Breast-ovarian cancer, familial 1 (BROVCA1)',
       u'synonyms': [u'BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1',
        u'OVARIAN CANCER, SUSCEPTIBILITY TO',
        u'BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1',
        u'Breast cancer, familial 1',
        u'hereditary breast and ovarian cancer, BROVCA1',
        u'Breast-ovarian cancer, familial, 1']},
      u'last_evaluated': u'2002-05-29',
      u'number_submitters': 1,
      u'origin': u'germline',
      u'preferred_name': u'NM_007294.3(BRCA1):c.5425G>T (p.Val1809Phe)',
      u'review_status': u'no assertion criteria provided'}],
    u'ref': u'C',
    u'rsid': u'rs28897698',
    u'type': u'single nucleotide variant',
    u'variant_id': 55573},
   u'dbnsfp': {u'aa': [{u'alt': u'V',
      u'codonpos': 2,
      u'pos': 680,
      u'ref': u'G',
      u'refcodon': u'GGT'},
     {u'alt': u'F',
      u'codonpos': 1,
      u'pos': [u'1809',
       u'667',
       u'119',
       u'300',
       u'42',
       u'1762',
       u'1830',
       u'705'],
      u'ref': u'V',
      u'refcodon': u'GTT'}],
    u'alt': u'A',
    u'ancestral_allele': u'C',
    u'cds_strand': u'-',
    u'chrom': u'17',
    u'ensembl': {u'geneid': u'ENSG00000012048',
     u'proteinid': u'ENSP00000417148',
     u'transcriptid': u'ENST00000468300'},
    u'fathmm': {u'pred': u'D', u'rankscore': 0.87685, u'score': -2.3},
    u'fathmm-mkl': {u'coding_group': u'AEFBI',
     u'coding_pred': u'D',
     u'coding_rankscore': 0.32918,
     u'coding_score': 0.66752},
    u'genename': u'BRCA1',
    u'gerp++': {u'nr': 4.98, u'rs': 2.97, u'rs_rankscore': 0.33223},
    u'gm12878': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.89268,
     u'fitcons_score': 0.724815},
    u'h1-hesc': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.87815,
     u'fitcons_score': 0.724815},
    u'hg18': {u'end': 38453228, u'start': 38453228},
    u'hg19': {u'end': 41199702, u'start': 41199702},
    u'hg38': {u'end': 43047685, u'start': 43047685},
    u'huvec': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.83205,
     u'fitcons_score': 0.714379},
    u'integrated': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.72903,
     u'fitcons_score': 0.706548},
    u'metalr': {u'pred': u'D', u'rankscore': 0.93339, u'score': 0.803},
    u'metasvm': {u'pred': u'D', u'rankscore': 0.86381, u'score': 0.2276},
    u'mutationtaster': {u'AAE': [u'G680V',
      u'V1809F',
      u'V119F',
      u'V300F',
      u'V42F',
      u'V1762F',
      u'V1830F',
      u'V705F',
      u'V1544F',
      u'V667F',
      u'V1570F',
      u'V626F',
      u'V658F',
      u'V1513F'],
     u'converted_rankscore': 0.39483,
     u'model': [u'simple_aae',
      u'simple_aae',
      u'simple_aae',
      u'simple_aae',
      u'simple_aae',
      u'simple_aae',
      u'simple_aae',
      u'simple_aae',
      u'simple_aae',
      u'simple_aae',
      u'simple_aae',
      u'simple_aae',
      u'simple_aae',
      u'simple_aae'],
     u'pred': [u'D',
      u'N',
      u'N',
      u'N',
      u'N',
      u'N',
      u'N',
      u'N',
      u'N',
      u'N',
      u'N',
      u'N',
      u'N',
      u'N'],
     u'score': [0.978687,
      0.64294,
      0.574257,
      0.574257,
      0.713266,
      0.617361,
      0.64294,
      0.574257,
      0.995933,
      0.574257,
      0.995933,
      0.574257,
      0.574257,
      0.931237]},
    u'phastcons': {u'20way': {u'mammalian': 0.615,
      u'mammalian_rankscore': 0.2897},
     u'7way': {u'vertebrate': 0.244, u'vertebrate_rankscore': 0.21102}},
    u'phylo': {u'p20way': {u'mammalian': 0.022,
      u'mammalian_rankscore': 0.14435},
     u'p7way': {u'vertebrate': -0.621, u'vertebrate_rankscore': 0.03621}},
    u'polyphen2': {u'hdiv': {u'pred': u'P',
      u'rankscore': 0.50293,
      u'score': 0.935},
     u'hvar': {u'pred': u'P', u'rankscore': 0.45284, u'score': 0.481}},
    u'provean': {u'pred': u'N', u'rankscore': 0.0336, u'score': 0.42},
    u'ref': u'C',
    u'reliability_index': 9,
    u'rsid': u'rs28897698',
    u'sift': {u'converted_rankscore': 0.91219, u'pred': u'D', u'score': 0.0},
    u'siphy_29way': {u'logodds': 6.5492,
     u'logodds_rankscore': 0.21406,
     u'pi': {u'a': 0.0, u'c': 0.7208, u'g': 0.1826, u't': 0.0966}},
    u'uniprot': {u'acc': u'Q6IN79', u'pos': u'680'}},
   u'dbsnp': {u'allele_origin': u'unspecified',
    u'alleles': [{u'allele': u'C'}, {u'allele': u'A'}],
    u'alt': u'A',
    u'chrom': u'17',
    u'class': u'SNV',
    u'dbsnp_build': 125,
    u'flags': [u'ASP',
     u'HD',
     u'LSD',
     u'NSM',
     u'PM',
     u'REF',
     u'RV',
     u'S3D',
     u'SLO'],
    u'gene': {u'geneid': u'672', u'symbol': u'BRCA1'},
    u'hg19': {u'end': 41199703, u'start': 41199702},
    u'ref': u'C',
    u'rsid': u'rs28897698',
    u'validated': False,
    u'var_subtype': u'tv',
    u'vartype': u'snp'},
   u'mutdb': {u'alt': u'T',
    u'chrom': u'17',
    u'hg19': {u'end': 41199702, u'start': 41199702},
    u'mutpred_score': 0.797,
    u'ref': u'G',
    u'rsid': u'rs28897698',
    u'strand': u'm'},
   u'snpeff': {u'ann': [{u'cdna': {u'length': u'7270', u'position': u'5720'},
      u'cds': {u'length': u'5655', u'position': u'5488'},
      u'effect': u'missense_variant',
      u'feature_id': u'NM_007300.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.5488G>T',
      u'hgvs_p': u'p.Val1830Phe',
      u'protein': {u'length': u'1884', u'position': u'1830'},
      u'putative_impact': u'MODERATE',
      u'rank': u'23',
      u'total': u'24',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'3682', u'position': u'2132'},
      u'cds': {u'length': u'2280', u'position': u'2113'},
      u'effect': u'missense_variant',
      u'feature_id': u'NM_007298.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.2113G>T',
      u'hgvs_p': u'p.Val705Phe',
      u'protein': {u'length': u'759', u'position': u'705'},
      u'putative_impact': u'MODERATE',
      u'rank': u'21',
      u'total': u'22',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'7115', u'position': u'5565'},
      u'cds': {u'length': u'5451', u'position': u'5284'},
      u'effect': u'missense_variant',
      u'feature_id': u'NM_007297.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.5284G>T',
      u'hgvs_p': u'p.Val1762Phe',
      u'protein': {u'length': u'1816', u'position': u'1762'},
      u'putative_impact': u'MODERATE',
      u'rank': u'21',
      u'total': u'22',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'3783', u'position': u'2233'},
      u'cds': {u'length': u'2100', u'position': u'2039'},
      u'effect': u'missense_variant',
      u'feature_id': u'NM_007299.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.2039G>T',
      u'hgvs_p': u'p.Gly680Val',
      u'protein': {u'length': u'699', u'position': u'680'},
      u'putative_impact': u'MODERATE',
      u'rank': u'21',
      u'total': u'22',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'7207', u'position': u'5657'},
      u'cds': {u'length': u'5592', u'position': u'5425'},
      u'effect': u'missense_variant',
      u'feature_id': u'NM_007294.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.5425G>T',
      u'hgvs_p': u'p.Val1809Phe',
      u'protein': {u'length': u'1863', u'position': u'1809'},
      u'putative_impact': u'MODERATE',
      u'rank': u'22',
      u'total': u'23',
      u'transcript_biotype': u'Coding'},
     {u'effect': u'non_coding_exon_variant',
      u'feature_id': u'NR_027676.1',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'n.5561G>T',
      u'putative_impact': u'MODIFIER',
      u'rank': u'22',
      u'total': u'23',
      u'transcript_biotype': u'Noncoding'}]},
   u'vcf': {u'alt': u'A', u'position': u'41199702', u'ref': u'C'}}],
 u'max_score': 12.69064,
 u'took': 17,
 u'total': 3532}
  • You can also set the output size to numbers other than 10.
In [13]:
mv.query('clinvar.gene.symbol:BRCA1', size=5)
Out[13]:
{u'hits': [{u'_id': u'NM_007294.3:c.4358-?_5277+?del',
   u'_score': 12.69064,
   u'clinvar': {u'allele_id': 94606,
    u'chrom': u'17',
    u'coding_hgvs_only': True,
    u'cytogenic': u'17q21.31',
    u'gene': {u'id': u'672', u'symbol': u'BRCA1'},
    u'hgvs': {u'coding': [u'LRG_292t1:c.4358-?_5277+?del',
      u'NM_007294.3:c.4358-?_5277+?del'],
     u'genomic': [u'LRG_292:g.(?_141370_160932_?)del',
      u'NC_000017.11:g.(?_43057052)_(43076614_?)del',
      u'NC_000017.10:g.(?_41209069)_(41228631_?)del']},
    u'rcv': [{u'accession': u'RCV000119187',
      u'clinical_significance': u'Pathogenic',
      u'conditions': {u'identifiers': {u'medgen': u'C0677776'},
       u'name': u'BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer (HBOC)',
       u'synonyms': [u'q', u'Hereditary breast and ovarian cancer syndrome']},
      u'last_evaluated': u'2014-03-27',
      u'number_submitters': 1,
      u'origin': u'germline',
      u'preferred_name': u'NM_007294.3(BRCA1):c.4358-?_5277+?del',
      u'review_status': u'no assertion criteria provided'},
     {u'accession': u'RCV000074593',
      u'clinical_significance': u'Pathogenic',
      u'conditions': {u'identifiers': {u'medgen': u'C0346153',
        u'omim': u'114480'},
       u'name': u'Familial cancer of breast',
       u'synonyms': [u'CHEK2-Related Breast Cancer',
        u'BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer']},
      u'number_submitters': 1,
      u'origin': u'germline',
      u'preferred_name': u'NM_007294.3(BRCA1):c.4358-?_5277+?del',
      u'review_status': u'criteria provided, single submitter'}],
    u'type': u'Deletion',
    u'variant_id': 89063}},
  {u'_id': u'chr17:g.41197590_41197593del',
   u'_score': 12.69064,
   u'clinvar': {u'allele_id': 102794,
    u'alt': u'-',
    u'chrom': u'17',
    u'cytogenic': u'17q21.31',
    u'gene': {u'id': u'672', u'symbol': u'BRCA1'},
    u'hg19': {u'end': 41197593, u'start': 41197590},
    u'hg38': {u'end': 43045576, u'start': 43045573},
    u'hgvs': {u'coding': [u'LRG_292t1:c.*102_*105delCTGT',
      u'NM_007294.3:c.*102_*105delCTGT'],
     u'genomic': [u'LRG_292:g.172408_172411delCTGT',
      u'NG_005905.2:g.172408_172411delCTGT',
      u'NC_000017.11:g.43045573_43045576delACAG',
      u'NC_000017.10:g.41197590_41197593delACAG']},
    u'rcv': {u'accession': u'RCV000083012',
     u'clinical_significance': u'Pathogenic',
     u'conditions': {u'age_of_onset': u'All ages',
      u'identifiers': {u'medgen': u'C2676676',
       u'omim': u'604370',
       u'orphanet': u'145'},
      u'name': u'Breast-ovarian cancer, familial 1 (BROVCA1)',
      u'synonyms': [u'BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1',
       u'OVARIAN CANCER, SUSCEPTIBILITY TO',
       u'BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1',
       u'Breast cancer, familial 1',
       u'hereditary breast and ovarian cancer, BROVCA1',
       u'Breast-ovarian cancer, familial, 1']},
     u'last_evaluated': u'2011-10-17',
     u'number_submitters': 1,
     u'origin': u'germline',
     u'preferred_name': u'NM_007294.3(BRCA1):c.*102_*105delCTGT',
     u'review_status': u'no assertion criteria provided'},
    u'ref': u'ACAG',
    u'rsid': u'rs431825382',
    u'type': u'Deletion',
    u'variant_id': 96891},
   u'snpeff': {u'ann': [{u'distance_to_feature': u'102',
      u'effect': u'3_prime_UTR_variant',
      u'feature_id': u'NM_007300.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.*102_*105delCTGT',
      u'putative_impact': u'MODIFIER',
      u'rank': u'24',
      u'total': u'24',
      u'transcript_biotype': u'Coding'},
     {u'distance_to_feature': u'102',
      u'effect': u'3_prime_UTR_variant',
      u'feature_id': u'NM_007298.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.*102_*105delCTGT',
      u'putative_impact': u'MODIFIER',
      u'rank': u'22',
      u'total': u'22',
      u'transcript_biotype': u'Coding'},
     {u'distance_to_feature': u'102',
      u'effect': u'3_prime_UTR_variant',
      u'feature_id': u'NM_007297.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.*102_*105delCTGT',
      u'putative_impact': u'MODIFIER',
      u'rank': u'22',
      u'total': u'22',
      u'transcript_biotype': u'Coding'},
     {u'distance_to_feature': u'208',
      u'effect': u'3_prime_UTR_variant',
      u'feature_id': u'NM_007299.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.*208_*211delCTGT',
      u'putative_impact': u'MODIFIER',
      u'rank': u'22',
      u'total': u'22',
      u'transcript_biotype': u'Coding'},
     {u'distance_to_feature': u'102',
      u'effect': u'3_prime_UTR_variant',
      u'feature_id': u'NM_007294.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.*102_*105delCTGT',
      u'putative_impact': u'MODIFIER',
      u'rank': u'23',
      u'total': u'23',
      u'transcript_biotype': u'Coding'},
     {u'effect': u'non_coding_exon_variant',
      u'feature_id': u'NR_027676.1',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'n.5830_5833delCTGT',
      u'putative_impact': u'MODIFIER',
      u'rank': u'23',
      u'total': u'23',
      u'transcript_biotype': u'Noncoding'}]},
   u'vcf': {u'alt': u'G', u'position': u'41197589', u'ref': u'GACAG'}},
  {u'_id': u'chr17:g.41197737C>G',
   u'_score': 12.69064,
   u'cadd': {u'_license': u'http://goo.gl/bkpNhq',
    u'alt': u'G',
    u'anc': u'C',
    u'annotype': u'CodingTranscript',
    u'bstatistic': 116,
    u'chmm': {u'bivflnk': 0.0,
     u'enh': 0.008,
     u'enhbiv': 0.0,
     u'het': 0.0,
     u'quies': 0.299,
     u'reprpc': 0.0,
     u'reprpcwk': 0.0,
     u'tssa': 0.0,
     u'tssaflnk': 0.0,
     u'tssbiv': 0.0,
     u'tx': 0.205,
     u'txflnk': 0.0,
     u'txwk': 0.48,
     u'znfrpts': 0.0},
    u'chrom': 17,
    u'consdetail': u'synonymous',
    u'consequence': u'SYNONYMOUS',
    u'consscore': 5,
    u'cpg': 0.01,
    u'dna': {u'helt': 1.78, u'mgw': 0.48, u'prot': -0.7, u'roll': -0.17},
    u'encode': {u'exp': 371.32,
     u'h3k27ac': 12.76,
     u'h3k4me1': 3.0,
     u'h3k4me3': 3.0,
     u'nucleo': 1.3},
    u'exon': u'24/24',
    u'fitcons': 0.723164,
    u'gc': 0.6,
    u'gene': {u'ccds_id': u'CCDS11456.2',
     u'cds': {u'cdna_pos': 5845,
      u'cds_pos': 5613,
      u'rel_cdna_pos': 0.98,
      u'rel_cds_pos': 0.99},
     u'feature_id': u'ENST00000471181',
     u'gene_id': u'ENSG00000012048',
     u'genename': u'BRCA1',
     u'prot': {u'domain': u'ndomain',
      u'protpos': 1871,
      u'rel_prot_pos': 0.99}},
    u'gerp': {u'n': 5.32, u'rs': 844.9, u'rs_pval': 8.78912e-51, u's': 4.33},
    u'isderived': u'TRUE',
    u'isknownvariant': u'FALSE',
    u'istv': u'TRUE',
    u'length': 0,
    u'mapability': {u'20bp': 0.5, u'35bp': 1},
    u'min_dist_tse': 42,
    u'min_dist_tss': 78396,
    u'mirsvr': {u'aln': 148, u'e': -24.01, u'score': -0.2148},
    u'mutindex': 8,
    u'naa': u'L',
    u'oaa': u'L',
    u'phast_cons': {u'mammalian': 1.0, u'primate': 0.997, u'vertebrate': 1.0},
    u'phred': 12.85,
    u'phylop': {u'mammalian': 2.766, u'primate': 0.559, u'vertebrate': 1.674},
    u'pos': 41197737,
    u'rawscore': 1.4117,
    u'ref': u'C',
    u'segway': u'TF2',
    u'type': u'SNV'},
   u'clinvar': {u'allele_id': 184867,
    u'alt': u'G',
    u'chrom': u'17',
    u'cytogenic': u'17q21.31',
    u'gene': {u'id': u'672', u'symbol': u'BRCA1'},
    u'hg19': {u'end': 41197737, u'start': 41197737},
    u'hg38': {u'end': 43045720, u'start': 43045720},
    u'hgvs': {u'coding': [u'LRG_292t1:c.5550G>C',
      u'NM_007299.3:c.*64G>C',
      u'NM_007294.3:c.5550G>C'],
     u'genomic': [u'LRG_292:g.172264G>C',
      u'NG_005905.2:g.172264G>C',
      u'NC_000017.11:g.43045720C>G',
      u'NC_000017.10:g.41197737C>G']},
    u'rcv': {u'accession': u'RCV000163767',
     u'clinical_significance': u'Likely benign',
     u'conditions': {u'identifiers': {u'medgen': u'C0027672'},
      u'name': u'Hereditary cancer-predisposing syndrome',
      u'synonyms': u'Neoplastic Syndromes, Hereditary'},
     u'last_evaluated': u'2013-12-19',
     u'number_submitters': 1,
     u'origin': u'germline',
     u'preferred_name': u'NM_007294.3(BRCA1):c.5550G>C (p.Leu1850=)',
     u'review_status': u'criteria provided, single submitter'},
    u'ref': u'C',
    u'rsid': u'rs786201502',
    u'type': u'single nucleotide variant',
    u'variant_id': 184500},
   u'snpeff': {u'ann': [{u'cdna': {u'length': u'7270', u'position': u'5845'},
      u'cds': {u'length': u'5655', u'position': u'5613'},
      u'effect': u'synonymous_variant',
      u'feature_id': u'NM_007300.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.5613G>C',
      u'hgvs_p': u'p.Leu1871Leu',
      u'protein': {u'length': u'1884', u'position': u'1871'},
      u'putative_impact': u'LOW',
      u'rank': u'24',
      u'total': u'24',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'3682', u'position': u'2257'},
      u'cds': {u'length': u'2280', u'position': u'2238'},
      u'effect': u'synonymous_variant',
      u'feature_id': u'NM_007298.3',
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     {u'effect': u'non_coding_exon_variant',
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   u'vcf': {u'alt': u'G', u'position': u'41197737', u'ref': u'C'}},
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        u'Breast-ovarian cancer, familial, 1']},
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     u'codonpos': 3,
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     u'trait': u'Breast-ovarian_cancer\\x2c_familial_1'},
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      u'ENSP00000465818',
      u'ENSP00000467329',
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      u'ENSP00000418775',
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     u'transcriptid': [u'ENST00000357654',
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      u'ENST00000586385',
      u'ENST00000591534',
      u'ENST00000591849',
      u'ENST00000493795',
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     u'fitcons_score': 0.724815},
    u'h1-hesc': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.96044,
     u'fitcons_score': 0.743671},
    u'hg18': {u'end': 38451302, u'start': 38451302},
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    u'huvec': {u'confidence_value': 0,
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     u'fitcons_score': 0.714379},
    u'integrated': {u'confidence_value': 0,
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    u'interpro_domain': u'BRCT domain',
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     u'omega': 0.0,
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      u'W686*',
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      u'W1837*',
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      u'W328*',
      u'W70*',
      u'W1790*',
      u'W1858*',
      u'W733*',
      u'W1572*',
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      u'complex_aae',
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   u'dbsnp': {u'allele_origin': u'unspecified',
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      u'preferred_name': u'NM_007294.3(BRCA1):c.5497G>A (p.Val1833Met)',
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     {u'accession': u'RCV000077626',
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       u'identifiers': {u'medgen': u'C2676676',
        u'omim': u'604370',
        u'orphanet': u'145'},
       u'name': u'Breast-ovarian cancer, familial 1 (BROVCA1)',
       u'synonyms': [u'BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1',
        u'OVARIAN CANCER, SUSCEPTIBILITY TO',
        u'BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1',
        u'Breast cancer, familial 1',
        u'hereditary breast and ovarian cancer, BROVCA1',
        u'Breast-ovarian cancer, familial, 1']},
      u'last_evaluated': u'2012-10-15',
      u'number_submitters': 2,
      u'origin': u'germline',
      u'preferred_name': u'NM_007294.3(BRCA1):c.5497G>A (p.Val1833Met)',
      u'review_status': u'no assertion criteria provided'},
     {u'accession': u'RCV000132307',
      u'clinical_significance': u'Likely pathogenic',
      u'conditions': {u'identifiers': {u'medgen': u'C0027672'},
       u'name': u'Hereditary cancer-predisposing syndrome',
       u'synonyms': u'Neoplastic Syndromes, Hereditary'},
      u'last_evaluated': u'2014-05-02',
      u'number_submitters': 1,
      u'origin': u'germline',
      u'preferred_name': u'NM_007294.3(BRCA1):c.5497G>A (p.Val1833Met)',
      u'review_status': u'criteria provided, single submitter'}],
    u'ref': u'C',
    u'rsid': u'rs80357268',
    u'type': u'single nucleotide variant',
    u'variant_id': 55598},
   u'dbnsfp': {u'aa': {u'alt': u'M',
     u'codonpos': 1,
     u'pos': [u'1833',
      u'691',
      u'143',
      u'324',
      u'66',
      u'1786',
      u'1854',
      u'729'],
     u'ref': u'V',
     u'refcodon': u'GTG'},
    u'alt': u'T',
    u'ancestral_allele': u'C',
    u'cds_strand': u'-',
    u'chrom': u'17',
    u'clinvar': {u'clinsig': 4,
     u'rs': u'rs80357268',
     u'trait': u'Hereditary_cancer-predisposing_syndrome'},
    u'ensembl': {u'geneid': u'ENSG00000012048',
     u'proteinid': [u'ENSP00000350283',
      u'ENSP00000312236',
      u'ENSP00000465818',
      u'ENSP00000467329',
      u'ENSP00000465347',
      u'ENSP00000418775',
      u'ENSP00000418960',
      u'ENSP00000420705'],
     u'transcriptid': [u'ENST00000357654',
      u'ENST00000352993',
      u'ENST00000586385',
      u'ENST00000591534',
      u'ENST00000591849',
      u'ENST00000493795',
      u'ENST00000471181',
      u'ENST00000491747']},
    u'fathmm': {u'pred': [u'D', u'D', u'D', u'D', u'D', u'D', u'D', u'D'],
     u'rankscore': 0.95286,
     u'score': [-3.68, -3.68, -3.68, -3.68, -3.68, -3.68, -3.68, -3.68]},
    u'fathmm-mkl': {u'coding_group': u'AEFBI',
     u'coding_pred': u'D',
     u'coding_rankscore': 0.52871,
     u'coding_score': 0.91246},
    u'genename': u'BRCA1',
    u'gerp++': {u'nr': 5.32, u'rs': 5.32, u'rs_rankscore': 0.75224},
    u'gm12878': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.89268,
     u'fitcons_score': 0.724815},
    u'h1-hesc': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.96044,
     u'fitcons_score': 0.743671},
    u'hg18': {u'end': 38451316, u'start': 38451316},
    u'hg19': {u'end': 41197790, u'start': 41197790},
    u'hg38': {u'end': 43045773, u'start': 43045773},
    u'huvec': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.52682,
     u'fitcons_score': 0.635551},
    u'integrated': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.92359,
     u'fitcons_score': 0.732398},
    u'interpro_domain': u'BRCT domain',
    u'lrt': {u'converted_rankscore': 0.47273,
     u'omega': 0.0,
     u'pred': u'D',
     u'score': 0.000226},
    u'metalr': {u'pred': u'D', u'rankscore': 0.96404, u'score': 0.8916},
    u'metasvm': {u'pred': u'D', u'rankscore': 0.96424, u'score': 0.9519},
    u'mutationassessor': {u'pred': u'M',
     u'rankscore': 0.72894,
     u'score': 2.215},
    u'mutationtaster': {u'AAE': [u'V1833M',
      u'V143M',
      u'V324M',
      u'V66M',
      u'V1786M',
      u'V1854M',
      u'V729M',
      u'V691M',
      u'V650M',
      u'V682M',
      u'V1537M',
      u'.',
      u'V1568M',
      u'V1594M'],
     u'converted_rankscore': 0.81033,
     u'model': [u'simple_aae',
      u'simple_aae',
      u'simple_aae',
      u'simple_aae',
      u'simple_aae',
      u'simple_aae',
      u'simple_aae',
      u'simple_aae',
      u'simple_aae',
      u'simple_aae',
      u'simple_aae',
      u'without_aae',
      u'simple_aae',
      u'simple_aae'],
     u'pred': [u'D',
      u'D',
      u'D',
      u'D',
      u'D',
      u'D',
      u'D',
      u'D',
      u'D',
      u'D',
      u'D',
      u'D',
      u'N',
      u'N'],
     u'score': [0.999688,
      0.999766,
      0.999766,
      0.999766,
      0.999768,
      0.99859,
      0.999766,
      0.999766,
      0.999766,
      0.999766,
      0.99766,
      1,
      0.897669,
      0.897669]},
    u'phastcons': {u'20way': {u'mammalian': 0.86,
      u'mammalian_rankscore': 0.35735},
     u'7way': {u'vertebrate': 0.976, u'vertebrate_rankscore': 0.4664}},
    u'phylo': {u'p20way': {u'mammalian': 0.935,
      u'mammalian_rankscore': 0.48811},
     u'p7way': {u'vertebrate': 0.871, u'vertebrate_rankscore': 0.44667}},
    u'polyphen2': {u'hdiv': {u'pred': u'D',
      u'rankscore': 0.89865,
      u'score': 1.0},
     u'hvar': {u'pred': u'D',
      u'rankscore': 0.91584,
      u'score': [0.999, 0.998, 0.999, 0.999, 0.999, 0.999]}},
    u'provean': {u'pred': [u'N', u'N', u'.', u'.', u'.', u'N', u'N', u'N'],
     u'rankscore': 0.53216,
     u'score': [-0.55, -2.43, None, None, None, -0.54, -0.49, -2.43]},
    u'ref': u'C',
    u'reliability_index': 10,
    u'rsid': u'rs80357268',
    u'sift': {u'converted_rankscore': 0.91219,
     u'pred': [u'D', u'D', u'.', u'.', u'.', u'D', u'D', u'D'],
     u'score': [0.0, 0.001, None, None, None, 0.0, 0.002, 0.001]},
    u'siphy_29way': {u'logodds': 14.3724,
     u'logodds_rankscore': 0.66207,
     u'pi': {u'a': 0.0, u'c': 1.0, u'g': 0.0, u't': 0.0}},
    u'uniprot': [{u'acc': u'B4DES0', u'pos': u'682'},
     {u'acc': u'C6YB45', u'pos': u'143'},
     {u'acc': u'E7ETR2', u'pos': u'728'},
     {u'acc': u'E9PFC7', u'pos': u'1855'},
     {u'acc': u'P38398', u'pos': u'1833'},
     {u'acc': u'P38398-2', u'pos': u'1833'}]},
   u'dbsnp': {u'allele_origin': u'unspecified',
    u'alleles': [{u'allele': u'C'}, {u'allele': u'T'}],
    u'alt': u'T',
    u'chrom': u'17',
    u'class': u'SNV',
    u'dbsnp_build': 132,
    u'flags': [u'ASP',
     u'LSD',
     u'NSM',
     u'PM',
     u'REF',
     u'RV',
     u'S3D',
     u'SLO',
     u'U3'],
    u'gene': {u'geneid': u'672', u'symbol': u'BRCA1'},
    u'hg19': {u'end': 41197791, u'start': 41197790},
    u'ref': u'C',
    u'rsid': u'rs80357268',
    u'validated': False,
    u'var_subtype': u'ts',
    u'vartype': u'snp'},
   u'mutdb': {u'alt': u'A',
    u'chrom': u'17',
    u'hg19': {u'end': 41197790, u'start': 41197790},
    u'mutpred_score': 0.585,
    u'ref': u'G',
    u'rsid': u'rs80357268',
    u'strand': u'm'},
   u'snpeff': {u'ann': [{u'cdna': {u'length': u'7270', u'position': u'5792'},
      u'cds': {u'length': u'5655', u'position': u'5560'},
      u'effect': u'missense_variant',
      u'feature_id': u'NM_007300.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.5560G>A',
      u'hgvs_p': u'p.Val1854Met',
      u'protein': {u'length': u'1884', u'position': u'1854'},
      u'putative_impact': u'MODERATE',
      u'rank': u'24',
      u'total': u'24',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'3682', u'position': u'2204'},
      u'cds': {u'length': u'2280', u'position': u'2185'},
      u'effect': u'missense_variant',
      u'feature_id': u'NM_007298.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.2185G>A',
      u'hgvs_p': u'p.Val729Met',
      u'protein': {u'length': u'759', u'position': u'729'},
      u'putative_impact': u'MODERATE',
      u'rank': u'22',
      u'total': u'22',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'7115', u'position': u'5637'},
      u'cds': {u'length': u'5451', u'position': u'5356'},
      u'effect': u'missense_variant',
      u'feature_id': u'NM_007297.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.5356G>A',
      u'hgvs_p': u'p.Val1786Met',
      u'protein': {u'length': u'1816', u'position': u'1786'},
      u'putative_impact': u'MODERATE',
      u'rank': u'22',
      u'total': u'22',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'7207', u'position': u'5729'},
      u'cds': {u'length': u'5592', u'position': u'5497'},
      u'effect': u'missense_variant',
      u'feature_id': u'NM_007294.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.5497G>A',
      u'hgvs_p': u'p.Val1833Met',
      u'protein': {u'length': u'1863', u'position': u'1833'},
      u'putative_impact': u'MODERATE',
      u'rank': u'23',
      u'total': u'23',
      u'transcript_biotype': u'Coding'},
     {u'distance_to_feature': u'11',
      u'effect': u'3_prime_UTR_variant',
      u'feature_id': u'NM_007299.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.*11G>A',
      u'putative_impact': u'MODIFIER',
      u'rank': u'22',
      u'total': u'22',
      u'transcript_biotype': u'Coding'},
     {u'effect': u'non_coding_exon_variant',
      u'feature_id': u'NR_027676.1',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'n.5633G>A',
      u'putative_impact': u'MODIFIER',
      u'rank': u'23',
      u'total': u'23',
      u'transcript_biotype': u'Noncoding'}]},
   u'vcf': {u'alt': u'T', u'position': u'41197790', u'ref': u'C'}}],
 u'max_score': 12.69064,
 u'took': 4,
 u'total': 3532}
  • Otherwise, you can also choose to return a generator to retrieve all the query results.
In [14]:
mv.query('clinvar.gene.symbol:BRCA1',fetch_all=True)
Out[14]:
<generator object _fetch_all at 0x10b99fb90>
  • If you want to filter for all BRCA1 related variants that are defined as pathogenic in ClinVar, you can pass gene symbol and clinical significance parameters to the query method.
In [15]:
out = mv.query('clinvar.gene.symbol:BRCA1 AND clinvar.rcv.clinical_significance:pathogenic')
Now, only 1126 variants are left matching these two criteria.
In [16]:
out
Out[16]:
{u'hits': [{u'_id': u'chr17:g.41197590_41197593del',
   u'_score': 15.629933,
   u'clinvar': {u'allele_id': 102794,
    u'alt': u'-',
    u'chrom': u'17',
    u'cytogenic': u'17q21.31',
    u'gene': {u'id': u'672', u'symbol': u'BRCA1'},
    u'hg19': {u'end': 41197593, u'start': 41197590},
    u'hg38': {u'end': 43045576, u'start': 43045573},
    u'hgvs': {u'coding': [u'LRG_292t1:c.*102_*105delCTGT',
      u'NM_007294.3:c.*102_*105delCTGT'],
     u'genomic': [u'LRG_292:g.172408_172411delCTGT',
      u'NG_005905.2:g.172408_172411delCTGT',
      u'NC_000017.11:g.43045573_43045576delACAG',
      u'NC_000017.10:g.41197590_41197593delACAG']},
    u'rcv': {u'accession': u'RCV000083012',
     u'clinical_significance': u'Pathogenic',
     u'conditions': {u'age_of_onset': u'All ages',
      u'identifiers': {u'medgen': u'C2676676',
       u'omim': u'604370',
       u'orphanet': u'145'},
      u'name': u'Breast-ovarian cancer, familial 1 (BROVCA1)',
      u'synonyms': [u'BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1',
       u'OVARIAN CANCER, SUSCEPTIBILITY TO',
       u'BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1',
       u'Breast cancer, familial 1',
       u'hereditary breast and ovarian cancer, BROVCA1',
       u'Breast-ovarian cancer, familial, 1']},
     u'last_evaluated': u'2011-10-17',
     u'number_submitters': 1,
     u'origin': u'germline',
     u'preferred_name': u'NM_007294.3(BRCA1):c.*102_*105delCTGT',
     u'review_status': u'no assertion criteria provided'},
    u'ref': u'ACAG',
    u'rsid': u'rs431825382',
    u'type': u'Deletion',
    u'variant_id': 96891},
   u'snpeff': {u'ann': [{u'distance_to_feature': u'102',
      u'effect': u'3_prime_UTR_variant',
      u'feature_id': u'NM_007300.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.*102_*105delCTGT',
      u'putative_impact': u'MODIFIER',
      u'rank': u'24',
      u'total': u'24',
      u'transcript_biotype': u'Coding'},
     {u'distance_to_feature': u'102',
      u'effect': u'3_prime_UTR_variant',
      u'feature_id': u'NM_007298.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.*102_*105delCTGT',
      u'putative_impact': u'MODIFIER',
      u'rank': u'22',
      u'total': u'22',
      u'transcript_biotype': u'Coding'},
     {u'distance_to_feature': u'102',
      u'effect': u'3_prime_UTR_variant',
      u'feature_id': u'NM_007297.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.*102_*105delCTGT',
      u'putative_impact': u'MODIFIER',
      u'rank': u'22',
      u'total': u'22',
      u'transcript_biotype': u'Coding'},
     {u'distance_to_feature': u'208',
      u'effect': u'3_prime_UTR_variant',
      u'feature_id': u'NM_007299.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.*208_*211delCTGT',
      u'putative_impact': u'MODIFIER',
      u'rank': u'22',
      u'total': u'22',
      u'transcript_biotype': u'Coding'},
     {u'distance_to_feature': u'102',
      u'effect': u'3_prime_UTR_variant',
      u'feature_id': u'NM_007294.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.*102_*105delCTGT',
      u'putative_impact': u'MODIFIER',
      u'rank': u'23',
      u'total': u'23',
      u'transcript_biotype': u'Coding'},
     {u'effect': u'non_coding_exon_variant',
      u'feature_id': u'NR_027676.1',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'n.5830_5833delCTGT',
      u'putative_impact': u'MODIFIER',
      u'rank': u'23',
      u'total': u'23',
      u'transcript_biotype': u'Noncoding'}]},
   u'vcf': {u'alt': u'G', u'position': u'41197589', u'ref': u'GACAG'}},
  {u'_id': u'chr17:g.41203078A>C',
   u'_score': 15.629933,
   u'clinvar': {u'allele_id': 180821,
    u'alt': u'C',
    u'chrom': u'17',
    u'cytogenic': u'17q21.31',
    u'gene': {u'id': u'672', u'symbol': u'BRCA1'},
    u'hg19': {u'end': 41203078, u'start': 41203078},
    u'hg38': {u'end': 43051061, u'start': 43051061},
    u'hgvs': {u'coding': [u'LRG_292t1:c.5332+2T>G',
      u'NM_007294.3:c.5332+2T>G'],
     u'genomic': [u'LRG_292:g.166923T>G',
      u'NG_005905.2:g.166923T>G',
      u'NC_000017.11:g.43051061A>C',
      u'NC_000017.10:g.41203078A>C']},
    u'rcv': {u'accession': u'RCV000160004',
     u'clinical_significance': u'Pathogenic',
     u'conditions': {u'identifiers': {u'medgen': u'C0346153',
       u'omim': u'114480'},
      u'name': u'Familial cancer of breast',
      u'synonyms': [u'CHEK2-Related Breast Cancer',
       u'BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer']},
     u'last_evaluated': u'2014-08-20',
     u'number_submitters': 1,
     u'origin': u'germline',
     u'preferred_name': u'NM_007294.3(BRCA1):c.5332+2T>G',
     u'review_status': u'criteria provided, single submitter'},
    u'ref': u'A',
    u'rsid': u'rs80358182',
    u'type': u'single nucleotide variant',
    u'variant_id': 182168},
   u'dbnsfp': {u'aa': {u'pos': -1},
    u'alt': u'C',
    u'ancestral_allele': u'A',
    u'cds_strand': u'-',
    u'chrom': u'17',
    u'clinvar': {u'clinsig': 5,
     u'rs': u'rs80358182',
     u'trait': u'Familial_cancer_of_breast'},
    u'ensembl': {u'geneid': u'ENSG00000012048',
     u'proteinid': [u'ENSP00000350283',
      u'ENSP00000312236',
      u'ENSP00000417148',
      u'ENSP00000465818',
      u'ENSP00000467329',
      u'ENSP00000418775',
      u'ENSP00000418960',
      u'ENSP00000420705'],
     u'transcriptid': [u'ENST00000357654',
      u'ENST00000352993',
      u'ENST00000468300',
      u'ENST00000586385',
      u'ENST00000591534',
      u'ENST00000493795',
      u'ENST00000471181',
      u'ENST00000491747']},
    u'fathmm-mkl': {u'coding_group': u'AEFBI',
     u'coding_pred': u'D',
     u'coding_rankscore': 0.72135,
     u'coding_score': 0.97037},
    u'genename': u'BRCA1',
    u'gerp++': {u'nr': 5.21, u'rs': 5.21, u'rs_rankscore': 0.71834},
    u'gm12878': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.04603,
     u'fitcons_score': 0.30413},
    u'h1-hesc': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.03107,
     u'fitcons_score': 0.137589},
    u'hg18': {u'end': 38456604, u'start': 38456604},
    u'hg19': {u'end': 41203078, u'start': 41203078},
    u'hg38': {u'end': 43051061, u'start': 43051061},
    u'huvec': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.02674,
     u'fitcons_score': 0.109871},
    u'integrated': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.0442,
     u'fitcons_score': 0.295142},
    u'mutationtaster': {u'converted_rankscore': 0.81033,
     u'model': u'without_aae',
     u'pred': u'D',
     u'score': 1},
    u'phastcons': {u'20way': {u'mammalian': 0.989,
      u'mammalian_rankscore': 0.53465},
     u'7way': {u'vertebrate': 0.996, u'vertebrate_rankscore': 0.63571}},
    u'phylo': {u'p20way': {u'mammalian': 1.199,
      u'mammalian_rankscore': 0.95998},
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   u'dbsnp': {u'allele_origin': u'unspecified',
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      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.4452C>G',
      u'hgvs_p': u'p.Tyr1484*',
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      u'putative_impact': u'HIGH',
      u'rank': u'14',
      u'total': u'24',
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     {u'cdna': {u'length': u'3682', u'position': u'1096'},
      u'cds': {u'length': u'2280', u'position': u'1077'},
      u'effect': u'stop_gained',
      u'feature_id': u'NM_007298.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.1077C>G',
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      u'protein': {u'length': u'759', u'position': u'359'},
      u'putative_impact': u'HIGH',
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      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'7115', u'position': u'4529'},
      u'cds': {u'length': u'5451', u'position': u'4248'},
      u'effect': u'stop_gained',
      u'feature_id': u'NM_007297.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.4248C>G',
      u'hgvs_p': u'p.Tyr1416*',
      u'protein': {u'length': u'1816', u'position': u'1416'},
      u'putative_impact': u'HIGH',
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      u'total': u'22',
      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'3783', u'position': u'1271'},
      u'cds': {u'length': u'2100', u'position': u'1077'},
      u'effect': u'stop_gained',
      u'feature_id': u'NM_007299.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
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     {u'cdna': {u'length': u'7207', u'position': u'4621'},
      u'cds': {u'length': u'5592', u'position': u'4389'},
      u'effect': u'stop_gained',
      u'feature_id': u'NM_007294.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.4389C>G',
      u'hgvs_p': u'p.Tyr1463*',
      u'protein': {u'length': u'1863', u'position': u'1463'},
      u'putative_impact': u'HIGH',
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      u'transcript_biotype': u'Coding'},
     {u'effect': u'non_coding_exon_variant',
      u'feature_id': u'NR_027676.1',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'n.4525C>G',
      u'putative_impact': u'MODIFIER',
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      u'transcript_biotype': u'Noncoding'}],
    u'lof': {u'gene_id': u'BRCA1',
     u'gene_name': u'BRCA1',
     u'number_of_transcripts_in_gene': u'6',
     u'percent_of_transcripts_affected': u'0.83'},
    u'nmd': {u'gene_id': u'BRCA1',
     u'gene_name': u'BRCA1',
     u'number_of_transcripts_in_gene': u'6',
     u'percent_of_transcripts_affected': u'0.83'}},
   u'vcf': {u'alt': u'C', u'position': u'41228600', u'ref': u'G'}},
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   u'_score': 15.629933,
   u'clinvar': {u'allele_id': 131221,
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    u'cytogenic': u'17q21.31',
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    u'hg38': {u'end': 43090962, u'start': 43090961},
    u'hgvs': {u'coding': [u'LRG_292t1:c.4167_4168insAG',
      u'NM_007294.3:c.4167_4168insAG'],
     u'genomic': [u'LRG_292:g.127022_127023insAG',
      u'NG_005905.2:g.127022_127023insAG',
      u'NC_000017.11:g.43090961_43090962insCT',
      u'NC_000017.10:g.41242978_41242979insCT']},
    u'rcv': {u'accession': u'RCV000112274',
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       u'omim': u'604370',
       u'orphanet': u'145'},
      u'name': u'Breast-ovarian cancer, familial 1 (BROVCA1)',
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       u'OVARIAN CANCER, SUSCEPTIBILITY TO',
       u'BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1',
       u'Breast cancer, familial 1',
       u'hereditary breast and ovarian cancer, BROVCA1',
       u'Breast-ovarian cancer, familial, 1']},
     u'last_evaluated': u'2002-05-29',
     u'number_submitters': 1,
     u'origin': u'germline',
     u'preferred_name': u'NM_007294.3(BRCA1):c.4167_4168insAG (p.Asp1390Argfs)',
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    u'ref': u'-',
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    u'type': u'Insertion',
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   u'dbsnp': {u'allele_origin': u'unspecified',
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    u'alt': u'CCT',
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    u'hg19': {u'end': 41242979, u'start': 41242978},
    u'ref': u'C',
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    u'validated': False,
    u'var_subtype': u'ins',
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   u'snpeff': {u'ann': [{u'cdna': {u'length': u'7270', u'position': u'4399'},
      u'cds': {u'length': u'5655', u'position': u'4167'},
      u'effect': u'frameshift_variant',
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      u'hgvs_p': u'p.Asp1390fs',
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     {u'cdna': {u'length': u'7115', u'position': u'4307'},
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      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.4026_4027insAG',
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     {u'cdna': {u'length': u'3783', u'position': u'1052'},
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      u'hgvs_c': u'c.858_859insAG',
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     {u'cdna': {u'length': u'7207', u'position': u'4399'},
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      u'effect': u'frameshift_variant',
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     {u'effect': u'non_coding_exon_variant',
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      u'hgvs_c': u'n.4303_4304insAG',
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      u'transcript_biotype': u'Noncoding'}],
    u'lof': {u'gene_id': u'BRCA1',
     u'gene_name': u'BRCA1',
     u'number_of_transcripts_in_gene': u'6',
     u'percent_of_transcripts_affected': u'0.83'}},
   u'vcf': {u'alt': u'CCT', u'position': u'41242978', u'ref': u'C'}},
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   u'clinvar': {u'allele_id': 131193,
    u'alt': u'GG',
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    u'hg19': {u'end': 41243718, u'start': 41243718},
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    u'hgvs': {u'coding': [u'NM_007294.3:c.3830_3831insC',
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      u'NM_007294.3:c.3830dupC'],
     u'genomic': [u'NG_005905.2:g.126283_126284insC',
      u'LRG_292:g.126283dupC',
      u'NG_005905.2:g.126283dupC',
      u'NC_000017.11:g.43091701dupG',
      u'NC_000017.10:g.41243718dupG']},
    u'rcv': {u'accession': u'RCV000112193',
     u'clinical_significance': u'Pathogenic',
     u'conditions': {u'age_of_onset': u'All ages',
      u'identifiers': {u'medgen': u'C2676676',
       u'omim': u'604370',
       u'orphanet': u'145'},
      u'name': u'Breast-ovarian cancer, familial 1 (BROVCA1)',
      u'synonyms': [u'BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1',
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       u'BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1',
       u'Breast cancer, familial 1',
       u'hereditary breast and ovarian cancer, BROVCA1',
       u'Breast-ovarian cancer, familial, 1']},
     u'last_evaluated': u'2002-06-20',
     u'number_submitters': 1,
     u'origin': u'germline',
     u'preferred_name': u'NM_007294.3(BRCA1):c.3830dupC (p.Ala1279Glyfs)',
     u'review_status': u'no assertion criteria provided'},
    u'ref': u'G',
    u'rsid': u'rs80357878',
    u'type': u'Duplication',
    u'variant_id': 125655}},
  {u'_id': u'chr17:g.41244224_41244225del',
   u'_score': 15.629933,
   u'clinvar': {u'allele_id': 184975,
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    u'cytogenic': u'17q21.31',
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    u'hgvs': {u'coding': [u'LRG_292t1:c.3323_3324delTA',
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      u'NM_007298.3:c.788-1176_788-1175del'],
     u'genomic': [u'LRG_292:g.125776_125777delTA',
      u'NG_005905.2:g.125776_125777delTA',
      u'NC_000017.11:g.43092207_43092208delTA',
      u'NC_000017.10:g.41244224_41244225delTA']},
    u'rcv': {u'accession': u'RCV000165779',
     u'clinical_significance': u'Pathogenic',
     u'conditions': {u'identifiers': {u'medgen': u'C0027672'},
      u'name': u'Hereditary cancer-predisposing syndrome',
      u'synonyms': u'Neoplastic Syndromes, Hereditary'},
     u'last_evaluated': u'2014-08-26',
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     u'origin': u'germline',
     u'preferred_name': u'NM_007294.3(BRCA1):c.3323_3324delTA (p.Ile1108Lysfs)',
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    u'ref': u'TA',
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    u'type': u'Deletion',
    u'variant_id': 186225},
   u'snpeff': {u'ann': [{u'cdna': {u'length': u'7270', u'position': u'3556'},
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     {u'cdna': {u'length': u'7115', u'position': u'3464'},
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      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.3182_3183delTA',
      u'hgvs_p': u'p.Ile1061fs',
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     {u'cdna': {u'length': u'7207', u'position': u'3556'},
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      u'putative_impact': u'HIGH',
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     {u'effect': u'intron_variant',
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      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.788-1176_788-1175delTA',
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     {u'effect': u'intron_variant',
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      u'hgvs_c': u'c.788-1176_788-1175delTA',
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      u'transcript_biotype': u'Coding'},
     {u'effect': u'non_coding_exon_variant',
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      u'gene_name': u'BRCA1',
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    u'lof': {u'gene_id': u'BRCA1',
     u'gene_name': u'BRCA1',
     u'number_of_transcripts_in_gene': u'6',
     u'percent_of_transcripts_affected': u'0.50'}},
   u'vcf': {u'alt': u'T', u'position': u'41244223', u'ref': u'TTA'}},
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   u'_score': 15.629933,
   u'cadd': {u'_license': u'http://goo.gl/bkpNhq',
    u'alt': u'C',
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    u'annotype': u'CodingTranscript',
    u'bstatistic': 111,
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     u'enh': 0.008,
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     u'tx': 0.307,
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     u'znfrpts': 0.0},
    u'chrom': 17,
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    u'consequence': u'STOP_GAINED',
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    u'dna': {u'helt': -0.79, u'mgw': 0.29, u'prot': -1.38, u'roll': 6.24},
    u'encode': {u'exp': 113.01,
     u'h3k27ac': 10.48,
     u'h3k4me1': 13.0,
     u'h3k4me3': 7.36,
     u'nucleo': 2.8},
    u'exon': u'10/24',
    u'fitcons': 0.701516,
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    u'gene': {u'ccds_id': u'CCDS11456.2',
     u'cds': {u'cdna_pos': 1446,
      u'cds_pos': 1214,
      u'rel_cdna_pos': 0.24,
      u'rel_cds_pos': 0.21},
     u'feature_id': u'ENST00000471181',
     u'gene_id': u'ENSG00000012048',
     u'genename': u'BRCA1',
     u'prot': {u'domain': u'ndomain', u'protpos': 405, u'rel_prot_pos': 0.21}},
    u'gerp': {u'n': 4.81, u'rs': 3134, u'rs_pval': 1.16396e-156, u's': 0.321},
    u'isderived': u'TRUE',
    u'isknownvariant': u'FALSE',
    u'istv': u'TRUE',
    u'length': 0,
    u'mapability': {u'20bp': 1, u'35bp': 1},
    u'min_dist_tse': 147,
    u'min_dist_tss': 1550,
    u'mutindex': 0,
    u'naa': u'*',
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    u'phast_cons': {u'mammalian': 0.014,
     u'primate': 0.131,
     u'vertebrate': 0.019},
    u'phred': 26.6,
    u'phylop': {u'mammalian': 0.334, u'primate': 0.651, u'vertebrate': 0.224},
    u'pos': 41246334,
    u'rawscore': 5.617398,
    u'ref': u'G',
    u'segway': u'GE1',
    u'tf': {u'bs': 1, u'bs_peaks': 1, u'bs_peaks_max': 25.8913},
    u'type': u'SNV'},
   u'clinvar': {u'allele_id': 102799,
    u'alt': u'C',
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    u'hg19': {u'end': 41246334, u'start': 41246334},
    u'hg38': {u'end': 43094317, u'start': 43094317},
    u'hgvs': {u'coding': [u'LRG_292t1:c.1214C>G',
      u'NM_007294.3:c.1214C>G',
      u'NM_007298.3:c.787+427C>G'],
     u'genomic': [u'LRG_292:g.123667C>G',
      u'NG_005905.2:g.123667C>G',
      u'NC_000017.11:g.43094317G>C',
      u'NC_000017.10:g.41246334G>C']},
    u'rcv': {u'accession': u'RCV000083017',
     u'clinical_significance': u'Pathogenic',
     u'conditions': {u'age_of_onset': u'All ages',
      u'identifiers': {u'medgen': u'C2676676',
       u'omim': u'604370',
       u'orphanet': u'145'},
      u'name': u'Breast-ovarian cancer, familial 1 (BROVCA1)',
      u'synonyms': [u'BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1',
       u'OVARIAN CANCER, SUSCEPTIBILITY TO',
       u'BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1',
       u'Breast cancer, familial 1',
       u'hereditary breast and ovarian cancer, BROVCA1',
       u'Breast-ovarian cancer, familial, 1']},
     u'last_evaluated': u'2012-05-01',
     u'number_submitters': 1,
     u'origin': u'germline',
     u'preferred_name': u'NM_007294.3(BRCA1):c.1214C>G (p.Ser405Ter)',
     u'review_status': u'no assertion criteria provided'},
    u'ref': u'G',
    u'rsid': u'rs80357481',
    u'type': u'single nucleotide variant',
    u'variant_id': 96896},
   u'dbnsfp': {u'aa': {u'alt': u'X',
     u'codonpos': 2,
     u'pos': [u'405', u'358', u'405', u'405', u'405', u'379', u'109', u'405'],
     u'ref': u'S',
     u'refcodon': u'TCA'},
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     u'trait': u'Breast-ovarian_cancer\\x2c_familial_1'},
    u'ensembl': {u'geneid': u'ENSG00000012048',
     u'proteinid': [u'ENSP00000350283',
      u'ENSP00000418775',
      u'ENSP00000418960',
      u'ENSP00000326002',
      u'ENSP00000419274',
      u'ENSP00000419988',
      u'ENSP00000418986',
      u'ENSP00000419103'],
     u'transcriptid': [u'ENST00000357654',
      u'ENST00000493795',
      u'ENST00000471181',
      u'ENST00000354071',
      u'ENST00000470026',
      u'ENST00000477152',
      u'ENST00000497488',
      u'ENST00000494123']},
    u'fathmm-mkl': {u'coding_group': u'AEFDGBIJ',
     u'coding_pred': u'N',
     u'coding_rankscore': 0.21311,
     u'coding_score': 0.21788},
    u'genename': u'BRCA1',
    u'gerp++': {u'nr': 4.81, u'rs': 0.321, u'rs_rankscore': 0.14999},
    u'gm12878': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.89268,
     u'fitcons_score': 0.724815},
    u'h1-hesc': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.39377,
     u'fitcons_score': 0.608884},
    u'hg18': {u'end': 38499860, u'start': 38499860},
    u'hg19': {u'end': 41246334, u'start': 41246334},
    u'hg38': {u'end': 43094317, u'start': 43094317},
    u'huvec': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.83205,
     u'fitcons_score': 0.714379},
    u'integrated': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.72903,
     u'fitcons_score': 0.706548},
    u'interpro_domain': u'BRCA1, serine-rich domain',
    u'lrt': {u'converted_rankscore': 0.13357,
     u'omega': 0.65704,
     u'pred': u'N',
     u'score': 0.382778},
    u'mutationtaster': {u'AAE': [u'S109*',
      u'S405*',
      u'S405*',
      u'S405*',
      u'S358*',
      u'S405*',
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      u'.',
      u'.',
      u'.',
      u'.',
      u'.',
      u'.',
      u'.'],
     u'converted_rankscore': 0.81033,
     u'model': [u'complex_aae',
      u'complex_aae',
      u'complex_aae',
      u'complex_aae',
      u'complex_aae',
      u'complex_aae',
      u'without_aae',
      u'without_aae',
      u'without_aae',
      u'without_aae',
      u'without_aae',
      u'without_aae',
      u'without_aae',
      u'without_aae'],
     u'pred': [u'A',
      u'A',
      u'A',
      u'A',
      u'A',
      u'A',
      u'N',
      u'N',
      u'N',
      u'N',
      u'N',
      u'N',
      u'N',
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     u'score': [1,
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      1,
      1,
      0.999999,
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      0.999999,
      0.999999,
      0.999999,
      0.999999,
      0.999999,
      0.999999]},
    u'phastcons': {u'20way': {u'mammalian': 0.19,
      u'mammalian_rankscore': 0.21332},
     u'7way': {u'vertebrate': 0.003, u'vertebrate_rankscore': 0.04807}},
    u'phylo': {u'p20way': {u'mammalian': 0.067,
      u'mammalian_rankscore': 0.17326},
     u'p7way': {u'vertebrate': -0.595, u'vertebrate_rankscore': 0.03875}},
    u'ref': u'G',
    u'rsid': u'rs80357481',
    u'siphy_29way': {u'logodds': 5.1885,
     u'logodds_rankscore': 0.14366,
     u'pi': {u'a': 0.245, u'c': 0.0, u'g': 0.6114, u't': 0.1436}}},
   u'dbsnp': {u'allele_origin': u'unspecified',
    u'alleles': [{u'allele': u'G'}, {u'allele': u'C'}, {u'allele': u'T'}],
    u'alt': u'C',
    u'chrom': u'17',
    u'class': u'SNV',
    u'dbsnp_build': 132,
    u'flags': [u'ASP', u'INT', u'LSD', u'NSN', u'PM', u'REF', u'RV', u'SLO'],
    u'gene': {u'geneid': u'672', u'symbol': u'BRCA1'},
    u'hg19': {u'end': 41246335, u'start': 41246334},
    u'ref': u'G',
    u'rsid': u'rs80357481',
    u'validated': False,
    u'var_subtype': u'unknown',
    u'vartype': u'snp'},
   u'snpeff': {u'ann': [{u'cdna': {u'length': u'7270', u'position': u'1446'},
      u'cds': {u'length': u'5655', u'position': u'1214'},
      u'effect': u'stop_gained',
      u'feature_id': u'NM_007300.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
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      u'hgvs_c': u'c.1214C>G',
      u'hgvs_p': u'p.Ser405*',
      u'protein': {u'length': u'1884', u'position': u'405'},
      u'putative_impact': u'HIGH',
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     {u'cdna': {u'length': u'7115', u'position': u'1354'},
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      u'effect': u'stop_gained',
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      u'feature_type': u'transcript',
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      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.1073C>G',
      u'hgvs_p': u'p.Ser358*',
      u'protein': {u'length': u'1816', u'position': u'358'},
      u'putative_impact': u'HIGH',
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      u'transcript_biotype': u'Coding'},
     {u'cdna': {u'length': u'7207', u'position': u'1446'},
      u'cds': {u'length': u'5592', u'position': u'1214'},
      u'effect': u'stop_gained',
      u'feature_id': u'NM_007294.3',
      u'feature_type': u'transcript',
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      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.1214C>G',
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      u'protein': {u'length': u'1863', u'position': u'405'},
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      u'transcript_biotype': u'Coding'},
     {u'effect': u'intron_variant',
      u'feature_id': u'NM_007298.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.787+427C>G',
      u'putative_impact': u'MODIFIER',
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      u'transcript_biotype': u'Coding'},
     {u'effect': u'intron_variant',
      u'feature_id': u'NM_007299.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
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      u'hgvs_c': u'c.787+427C>G',
      u'putative_impact': u'MODIFIER',
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      u'transcript_biotype': u'Coding'},
     {u'effect': u'non_coding_exon_variant',
      u'feature_id': u'NR_027676.1',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'n.1350C>G',
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      u'total': u'23',
      u'transcript_biotype': u'Noncoding'}],
    u'lof': {u'gene_id': u'BRCA1',
     u'gene_name': u'BRCA1',
     u'number_of_transcripts_in_gene': u'6',
     u'percent_of_transcripts_affected': u'0.50'},
    u'nmd': {u'gene_id': u'BRCA1',
     u'gene_name': u'BRCA1',
     u'number_of_transcripts_in_gene': u'6',
     u'percent_of_transcripts_affected': u'0.50'}},
   u'vcf': {u'alt': u'C', u'position': u'41246334', u'ref': u'G'}},
  {u'_id': u'chr17:g.41246563_41246564insG',
   u'_score': 15.629933,
   u'clinvar': {u'allele_id': 131019,
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    u'cytogenic': u'17q21.31',
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    u'hg19': {u'end': 41246564, u'start': 41246563},
    u'hg38': {u'end': 43094547, u'start': 43094546},
    u'hgvs': {u'coding': [u'LRG_292t1:c.984_985insC',
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      u'NM_007294.3:c.984_985insC'],
     u'genomic': [u'LRG_292:g.123437_123438insC',
      u'NG_005905.2:g.123437_123438insC',
      u'NC_000017.11:g.43094546_43094547insG',
      u'NC_000017.10:g.41246563_41246564insG']},
    u'rcv': {u'accession': u'RCV000111522',
     u'clinical_significance': u'Pathogenic',
     u'conditions': {u'age_of_onset': u'All ages',
      u'identifiers': {u'medgen': u'C2676676',
       u'omim': u'604370',
       u'orphanet': u'145'},
      u'name': u'Breast-ovarian cancer, familial 1 (BROVCA1)',
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       u'Breast-ovarian cancer, familial, 1']},
     u'last_evaluated': u'1997-11-14',
     u'number_submitters': 1,
     u'origin': u'germline',
     u'preferred_name': u'NM_007294.3(BRCA1):c.984_985insC (p.Asn329Glnfs)',
     u'review_status': u'no assertion criteria provided'},
    u'ref': u'-',
    u'rsid': u'rs80357775',
    u'type': u'Insertion',
    u'variant_id': 125481},
   u'dbsnp': {u'allele_origin': u'unspecified',
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    u'hg19': {u'end': 41246564, u'start': 41246563},
    u'ref': u'T',
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    u'validated': False,
    u'var_subtype': u'ins',
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   u'snpeff': {u'ann': [{u'cdna': {u'length': u'7270', u'position': u'1216'},
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      u'hgvs_c': u'c.984_985insC',
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      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.843_844insC',
      u'hgvs_p': u'p.Asn282fs',
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      u'putative_impact': u'HIGH',
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     {u'cdna': {u'length': u'7207', u'position': u'1216'},
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      u'effect': u'frameshift_variant',
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      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.984_985insC',
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     {u'effect': u'intron_variant',
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      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.787+197_787+198insC',
      u'putative_impact': u'MODIFIER',
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      u'transcript_biotype': u'Coding'},
     {u'effect': u'intron_variant',
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      u'gene_id': u'BRCA1',
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     {u'effect': u'non_coding_exon_variant',
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      u'gene_name': u'BRCA1',
      u'hgvs_c': u'n.1120_1121insC',
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      u'total': u'23',
      u'transcript_biotype': u'Noncoding'}],
    u'lof': {u'gene_id': u'BRCA1',
     u'gene_name': u'BRCA1',
     u'number_of_transcripts_in_gene': u'6',
     u'percent_of_transcripts_affected': u'0.50'}},
   u'vcf': {u'alt': u'TG', u'position': u'41246563', u'ref': u'T'}},
  {u'_id': u'chr17:g.41251791C>T',
   u'_score': 15.629933,
   u'clinvar': {u'allele_id': 131419,
    u'alt': u'T',
    u'chrom': u'17',
    u'cytogenic': u'17q21.31',
    u'gene': {u'id': u'672', u'symbol': u'BRCA1'},
    u'hg19': {u'end': 41251791, u'start': 41251791},
    u'hg38': {u'end': 43099774, u'start': 43099774},
    u'hgvs': {u'coding': [u'LRG_292t1:c.547+1G>A', u'NM_007294.3:c.547+1G>A'],
     u'genomic': [u'LRG_292:g.118210G>A',
      u'NG_005905.2:g.118210G>A',
      u'NC_000017.11:g.43099774C>T',
      u'NC_000017.10:g.41251791C>T']},
    u'rcv': {u'accession': u'RCV000112729',
     u'clinical_significance': u'Pathogenic',
     u'conditions': {u'age_of_onset': u'All ages',
      u'identifiers': {u'medgen': u'C2676676',
       u'omim': u'604370',
       u'orphanet': u'145'},
      u'name': u'Breast-ovarian cancer, familial 1 (BROVCA1)',
      u'synonyms': [u'BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1',
       u'OVARIAN CANCER, SUSCEPTIBILITY TO',
       u'BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1',
       u'Breast cancer, familial 1',
       u'hereditary breast and ovarian cancer, BROVCA1',
       u'Breast-ovarian cancer, familial, 1']},
     u'last_evaluated': u'2003-12-23',
     u'number_submitters': 1,
     u'origin': u'germline',
     u'preferred_name': u'NM_007294.3(BRCA1):c.547+1G>A',
     u'review_status': u'no assertion criteria provided'},
    u'ref': u'C',
    u'rsid': u'rs80358030',
    u'type': u'single nucleotide variant',
    u'variant_id': 125881},
   u'dbnsfp': {u'aa': {u'pos': -1},
    u'alt': u'T',
    u'ancestral_allele': u'C',
    u'cds_strand': u'-',
    u'chrom': u'17',
    u'clinvar': {u'clinsig': 5,
     u'rs': u'rs80358030',
     u'trait': u'Breast-ovarian_cancer\\x2c_familial_1'},
    u'ensembl': {u'geneid': u'ENSG00000012048',
     u'proteinid': [u'ENSP00000350283',
      u'ENSP00000312236',
      u'ENSP00000417148',
      u'ENSP00000418775',
      u'ENSP00000418960',
      u'ENSP00000420705',
      u'ENSP00000419481',
      u'ENSP00000420412',
      u'ENSP00000418819',
      u'ENSP00000418212',
      u'ENSP00000326002',
      u'ENSP00000419274',
      u'ENSP00000419988',
      u'ENSP00000419103',
      u'ENSP00000417554'],
     u'transcriptid': [u'ENST00000357654',
      u'ENST00000352993',
      u'ENST00000468300',
      u'ENST00000493795',
      u'ENST00000471181',
      u'ENST00000491747',
      u'ENST00000484087',
      u'ENST00000478531',
      u'ENST00000493919',
      u'ENST00000487825',
      u'ENST00000354071',
      u'ENST00000470026',
      u'ENST00000477152',
      u'ENST00000494123',
      u'ENST00000476777']},
    u'fathmm-mkl': {u'coding_group': u'AEFBI',
     u'coding_pred': u'D',
     u'coding_rankscore': 0.45601,
     u'coding_score': 0.86583},
    u'genename': u'BRCA1',
    u'gerp++': {u'nr': 5.16, u'rs': 5.16, u'rs_rankscore': 0.70385},
    u'gm12878': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.02865,
     u'fitcons_score': 0.156173},
    u'h1-hesc': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.02788,
     u'fitcons_score': 0.125526},
    u'hg18': {u'end': 38505317, u'start': 38505317},
    u'hg19': {u'end': 41251791, u'start': 41251791},
    u'hg38': {u'end': 43099774, u'start': 43099774},
    u'huvec': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.02238,
     u'fitcons_score': 0.092715},
    u'integrated': {u'confidence_value': 0,
     u'fitcons_rankscore': 0.02649,
     u'fitcons_score': 0.156188},
    u'mutationtaster': {u'converted_rankscore': 0.81033,
     u'model': u'without_aae',
     u'pred': u'D',
     u'score': 1},
    u'phastcons': {u'20way': {u'mammalian': 0.898,
      u'mammalian_rankscore': 0.37771},
     u'7way': {u'vertebrate': 0.559, u'vertebrate_rankscore': 0.26867}},
    u'phylo': {u'p20way': {u'mammalian': 0.892,
      u'mammalian_rankscore': 0.4006},
     u'p7way': {u'vertebrate': 0.871, u'vertebrate_rankscore': 0.44667}},
    u'ref': u'C',
    u'rsid': u'rs80358030',
    u'siphy_29way': {u'logodds': 14.3275,
     u'logodds_rankscore': 0.6588,
     u'pi': {u'a': 0.0, u'c': 1.0, u'g': 0.0, u't': 0.0}}},
   u'dbsnp': {u'allele_origin': u'unspecified',
    u'alleles': [{u'allele': u'C'}, {u'allele': u'A'}, {u'allele': u'T'}],
    u'alt': u'T',
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    u'class': u'SNV',
    u'dbsnp_build': 132,
    u'flags': [u'ASP', u'DSS', u'LSD', u'PM', u'RV', u'SLO'],
    u'gene': {u'geneid': u'672', u'symbol': u'BRCA1'},
    u'hg19': {u'end': 41251792, u'start': 41251791},
    u'ref': u'C',
    u'rsid': u'rs80358030',
    u'validated': False,
    u'var_subtype': u'unknown',
    u'vartype': u'snp'},
   u'snpeff': {u'ann': [{u'effect': u'splice_donor_variant&intron_variant',
      u'feature_id': u'NM_007300.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.547+1G>A',
      u'putative_impact': u'HIGH',
      u'rank': u'7',
      u'total': u'23',
      u'transcript_biotype': u'Coding'},
     {u'effect': u'splice_donor_variant&intron_variant',
      u'feature_id': u'NM_007298.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.547+1G>A',
      u'putative_impact': u'HIGH',
      u'rank': u'6',
      u'total': u'21',
      u'transcript_biotype': u'Coding'},
     {u'effect': u'splice_donor_variant&intron_variant',
      u'feature_id': u'NR_027676.1',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'n.683+1G>A',
      u'putative_impact': u'HIGH',
      u'rank': u'7',
      u'total': u'22',
      u'transcript_biotype': u'Noncoding'},
     {u'effect': u'splice_donor_variant&intron_variant',
      u'feature_id': u'NM_007297.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.406+1G>A',
      u'putative_impact': u'HIGH',
      u'rank': u'6',
      u'total': u'21',
      u'transcript_biotype': u'Coding'},
     {u'effect': u'splice_donor_variant&intron_variant',
      u'feature_id': u'NM_007299.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.547+1G>A',
      u'putative_impact': u'HIGH',
      u'rank': u'7',
      u'total': u'21',
      u'transcript_biotype': u'Coding'},
     {u'effect': u'splice_donor_variant&intron_variant',
      u'feature_id': u'NM_007294.3',
      u'feature_type': u'transcript',
      u'gene_id': u'BRCA1',
      u'gene_name': u'BRCA1',
      u'hgvs_c': u'c.547+1G>A',
      u'putative_impact': u'HIGH',
      u'rank': u'7',
      u'total': u'22',
      u'transcript_biotype': u'Coding'}],
    u'lof': {u'gene_id': u'BRCA1',
     u'gene_name': u'BRCA1',
     u'number_of_transcripts_in_gene': u'6',
     u'percent_of_transcripts_affected': u'0.83'}},
   u'vcf': {u'alt': u'T', u'position': u'41251791', u'ref': u'C'}}],
 u'max_score': 15.629933,
 u'took': 72,
 u'total': 1126}
  • You can also query for multiple terms. For example, if you want to query for annotation data related to multiple RCV accession numbers, you can do so by calling the querymany method.
Here is a list of *RCV accession numbers* you might want to query.
In [17]:
xli = ['RCV000059118',
       'RCV000059119',
       'RCV000057234',
       'RCV000037456',
       'RCV000000019',
       'RCV000000134']
In [18]:
out = mv.querymany(xli, scopes='clinvar.rcv.accession')
querying 1-6...done.
Finished.
Here is the output of all annotation records related to these *RCV accession numbers* in xli in MyVariant.info.
In [19]:
out
Out[19]:
[{u'_id': u'chr11:g.118895925C>T',
  u'_score': 10.333494,
  u'cadd': {u'_license': u'http://goo.gl/bkpNhq',
   u'alt': u'T',
   u'anc': u'C',
   u'annotype': [u'CodingTranscript', u'Intergenic'],
   u'bstatistic': 476,
   u'chmm': {u'bivflnk': 0.0,
    u'enh': 0.197,
    u'enhbiv': 0.0,
    u'het': 0.0,
    u'quies': 0.0,
    u'reprpc': 0.0,
    u'reprpcwk': 0.0,
    u'tssa': 0.0,
    u'tssaflnk': 0.0,
    u'tssbiv': 0.0,
    u'tx': 0.622,
    u'txflnk': 0.055,
    u'txwk': 0.11,
    u'znfrpts': 0.0},
   u'chrom': 11,
   u'consdetail': [u'missense', u'downstream'],
   u'consequence': [u'NON_SYNONYMOUS', u'DOWNSTREAM'],
   u'consscore': [7, 1],
   u'cpg': 0.04,
   u'dna': {u'helt': 2.03, u'mgw': 0.26, u'prot': -2.64, u'roll': -0.64},
   u'encode': {u'exp': 136.25,
    u'h3k27ac': 13.84,
    u'h3k4me1': 33.84,
    u'h3k4me3': 6.4,
    u'nucleo': 2.7,
    u'occ': 2,
    u'p_val': {u'comb': 0.95,
     u'ctcf': 0.0,
     u'dnas': 1.62,
     u'faire': 0.0,
     u'mycp': 0.0,
     u'polii': 0.0},
    u'sig': {u'ctcf': 0.03,
     u'dnase': 0.04,
     u'faire': 0.01,
     u'myc': 0.0,
     u'polii': 0.0}},
   u'exon': u'11/12',
   u'fitcons': 0.2838,
   u'gc': 0.55,
   u'gene': [{u'cds': {u'cdna_pos': 1606,
      u'cds_pos': 1165,
      u'rel_cdna_pos': 0.68,
      u'rel_cds_pos': 0.86},
     u'feature_id': u'ENST00000357590',
     u'gene_id': u'ENSG00000137700',
     u'genename': u'SLC37A4',
     u'prot': {u'domain': u'tmhmm', u'protpos': 389, u'rel_prot_pos': 0.86}},
    {u'ccds_id': u'CCDS8407.1',
     u'feature_id': u'ENST00000533632',
     u'gene_id': u'ENSG00000196655',
     u'genename': u'TRAPPC4'}],
   u'gerp': {u'n': 5.12, u'rs': 2485.2, u'rs_pval': 2.73146e-114, u's': 5.12},
   u'grantham': 58,
   u'isderived': u'TRUE',
   u'isknownvariant': u'FALSE',
   u'istv': u'FALSE',
   u'length': 0,
   u'mapability': {u'20bp': 1, u'35bp': 1},
   u'min_dist_tse': 63,
   u'min_dist_tss': 3820,
   u'mutindex': 109,
   u'naa': u'T',
   u'oaa': u'A',
   u'phast_cons': {u'mammalian': 0.999, u'primate': 0.987, u'vertebrate': 1.0},
   u'phred': 34,
   u'phylop': {u'mammalian': 2.677, u'primate': 0.557, u'vertebrate': 5.851},
   u'polyphen': {u'cat': u'possibly_damaging', u'val': 0.861},
   u'pos': 118895925,
   u'rawscore': 7.48625,
   u'ref': u'C',
   u'segway': u'GM1',
   u'sift': {u'cat': u'deleterious', u'val': 0.04},
   u'tf': {u'bs': 1, u'bs_peaks': 1, u'bs_peaks_max': 28.018},
   u'type': u'SNV'},
  u'clinvar': {u'allele_id': 34150,
   u'alt': u'T',
   u'chrom': u'11',
   u'cytogenic': u'11q23.3',
   u'gene': {u'id': u'2542', u'symbol': u'SLC37A4'},
   u'hg19': {u'end': 118895925, u'start': 118895925},
   u'hg38': {u'end': 119025215, u'start': 119025215},
   u'hgvs': {u'coding': [u'LRG_187t1:c.1099G>A',
     u'NM_001164277.1:c.1099G>A',
     u'NM_001467.5:c.1099G>A'],
    u'genomic': [u'LRG_187:g.10691G>A',
     u'NG_013331.1:g.10691G>A',
     u'NC_000011.10:g.119025215C>T',
     u'NC_000011.9:g.118895925C>T']},
   u'rcv': [{u'accession': u'RCV000020461',
     u'clinical_significance': u'Pathogenic',
     u'conditions': {u'age_of_onset': u'Neonatal',
      u'identifiers': {u'medgen': u'C0268146',
       u'omim': u'232220',
       u'orphanet': u'79259'},
      u'name': u'Glucose-6-phosphate transport defect (GSD1B)',
      u'synonyms': [u'GLYCOGEN STORAGE DISEASE Ib', u'GSD Ib']},
     u'last_evaluated': u'2010-12-23',
     u'number_submitters': 1,
     u'origin': u'not provided',
     u'preferred_name': u'NM_001164277.1(SLC37A4):c.1099G>A (p.Ala367Thr)',
     u'review_status': u'no assertion criteria provided'},
    {u'accession': u'RCV000059118',
     u'clinical_significance': u'not provided',
     u'conditions': {u'identifiers': {u'medgen': u'CN221809'},
      u'name': u'not provided'},
     u'number_submitters': 1,
     u'origin': u'not provided',
     u'preferred_name': u'NM_001164277.1(SLC37A4):c.1099G>A (p.Ala367Thr)',
     u'review_status': u'no assertion provided'}],
   u'ref': u'C',
   u'rsid': u'rs80356492',
   u'type': u'single nucleotide variant',
   u'uniprot': u'VAR_025602',
   u'variant_id': 21298},
  u'dbnsfp': {u'aa': {u'alt': u'T',
    u'codonpos': 1,
    u'pos': [u'389', u'294', u'367', u'367'],
    u'ref': u'A',
    u'refcodon': u'GCC'},
   u'alspac': {u'ac': 2, u'af': 0.0005189413596263622},
   u'alt': u'T',
   u'ancestral_allele': u'C',
   u'cds_strand': u'-',
   u'chrom': u'11',
   u'clinvar': {u'clinsig': 5,
    u'rs': u'rs80356492',
    u'trait': u'Glucose-6-phosphate_transport_defect'},
   u'ensembl': {u'geneid': u'ENSG00000137700',
    u'proteinid': [u'ENSP00000476176',
     u'ENSP00000475991',
     u'ENSP00000475241',
     u'ENSP00000476242'],
    u'transcriptid': [u'ENST00000357590',
     u'ENST00000538950',
     u'ENST00000545985',
     u'ENST00000330775']},
   u'exac': {u'ac': 6,
    u'adj_ac': 6,
    u'adj_af': 5.226e-05,
    u'af': 4.961e-05,
    u'afr_ac': 0,
    u'afr_af': 0,
    u'amr_ac': 0,
    u'amr_af': 0,
    u'eas_ac': 0,
    u'eas_af': 0,
    u'fin_ac': 0,
    u'fin_af': 0,
    u'nfe_ac': 4,
    u'nfe_af': 6.276e-05,
    u'sas_ac': 2,
    u'sas_af': 0.0001281},
   u'fathmm-mkl': {u'coding_group': u'AEFDBCIJ',
    u'coding_pred': u'D',
    u'coding_rankscore': 0.73687,
    u'coding_score': 0.97297},
   u'genename': u'SLC37A4',
   u'gerp++': {u'nr': 5.12, u'rs': 5.12, u'rs_rankscore': 0.69274},
   u'gm12878': {u'confidence_value': 0,
    u'fitcons_rankscore': 0.04325,
    u'fitcons_score': 0.278934},
   u'h1-hesc': {u'confidence_value': 0,
    u'fitcons_rankscore': 0.04794,
    u'fitcons_score': 0.299256},
   u'hg18': {u'end': 118401135, u'start': 118401135},
   u'hg19': {u'end': 118895925, u'start': 118895925},
   u'hg38': {u'end': 119025215, u'start': 119025215},
   u'huvec': {u'confidence_value': 0,
    u'fitcons_rankscore': 0.03188,
    u'fitcons_score': 0.119812},
   u'integrated': {u'confidence_value': 0,
    u'fitcons_rankscore': 0.04139,
    u'fitcons_score': 0.283894},
   u'interpro_domain': u'Major facilitator superfamily domain',
   u'mutationassessor': {u'pred': u'M', u'rankscore': 0.79762, u'score': 2.47},
   u'mutationtaster': {u'converted_rankscore': 0.81033,
    u'model': u'without_aae',
    u'pred': u'A',
    u'score': 1},
   u'phastcons': {u'20way': {u'mammalian': 0.971,
     u'mammalian_rankscore': 0.46156},
    u'7way': {u'vertebrate': 0.996, u'vertebrate_rankscore': 0.63571}},
   u'phylo': {u'p20way': {u'mammalian': 0.935,
     u'mammalian_rankscore': 0.48811},
    u'p7way': {u'vertebrate': 0.871, u'vertebrate_rankscore': 0.44667}},
   u'polyphen2': {u'hdiv': {u'pred': u'D',
     u'rankscore': 0.76378,
     u'score': [0.997, 0.998, 0.999, 0.998]},
    u'hvar': {u'pred': u'D',
     u'rankscore': 0.69333,
     u'score': [0.932, 0.932, 0.964, 0.932]}},
   u'ref': u'C',
   u'rsid': u'rs80356492',
   u'siphy_29way': {u'logodds': 18.3397,
    u'logodds_rankscore': 0.90175,
    u'pi': {u'a': 0.0, u'c': 1.0, u'g': 0.0, u't': 0.0}},
   u'twinsuk': {u'ac': 0, u'af': 0.0},
   u'uniprot': [{u'acc': u'B4DPL8', u'pos': u'351'},
    {u'acc': u'Q6IBR9', u'pos': u'367'},
    {u'acc': u'O43826-2', u'pos': u'389'},
    {u'acc': u'O43826', u'pos': u'367'}]},
  u'dbsnp': {u'allele_origin': u'germline',
   u'alleles': [{u'allele': u'C'}, {u'allele': u'T'}],
   u'alt': u'T',
   u'chrom': u'11',
   u'class': u'SNV',
   u'dbsnp_build': 131,
   u'flags': [u'ASP',
    u'LSD',
    u'NSM',
    u'PM',
    u'PMC',
    u'REF',
    u'RV',
    u'S3D',
    u'SLO'],
   u'gene': {u'geneid': u'2542', u'symbol': u'SLC37A4'},
   u'hg19': {u'end': 118895926, u'start': 118895925},
   u'ref': u'C',
   u'rsid': u'rs80356492',
   u'validated': False,
   u'var_subtype': u'ts',
   u'vartype': u'snp'},
  u'exac': {u'ac': {u'ac': 6,
    u'ac_adj': 6,
    u'ac_afr': 0,
    u'ac_amr': 0,
    u'ac_eas': 0,
    u'ac_fin': 0,
    u'ac_nfe': 4,
    u'ac_oth': 0,
    u'ac_sas': 2},
   u'af': 4.961e-05,
   u'alleles': u'T',
   u'alt': u'T',
   u'an': {u'an': 120950,
    u'an_adj': 114810,
    u'an_afr': 9306,
    u'an_amr': 10742,
    u'an_eas': 8246,
    u'an_fin': 6308,
    u'an_nfe': 63734,
    u'an_oth': 856,
    u'an_sas': 15618},
   u'baseqranksum': 0.598,
   u'chrom': u'11',
   u'clippingranksum': -0.197,
   u'culprit': u'MQ',
   u'dp': 1412977,
   u'fs': 11.779,
   u'het': {u'ac_het': 6,
    u'het_afr': 0,
    u'het_amr': 0,
    u'het_eas': 0,
    u'het_fin': 0,
    u'het_nfe': 4,
    u'het_oth': 0,
    u'het_sas': 2},
   u'hom': {u'ac_hom': 0,
    u'hom_afr': 0,
    u'hom_amr': 0,
    u'hom_eas': 0,
    u'hom_fin': 0,
    u'hom_nfe': 0,
    u'hom_oth': 0,
    u'hom_sas': 0},
   u'inbreedingcoeff': 0.0012,
   u'mq': {u'mq': 59.06, u'mq0': 0, u'mqranksum': 0.717},
   u'ncc': 1385,
   u'pos': 118895925,
   u'qd': 12.08,
   u'qual': 2994.9,
   u'readposranksum': 0.237,
   u'ref': u'C',
   u'type': u'snp',
   u'vqslod': -0.7519},
  u'mutdb': {u'alt': u'A',
   u'chrom': u'11',
   u'hg19': {u'end': 118895925, u'start': 118895925},
   u'mutpred_score': 0.835,
   u'ref': u'G',
   u'rsid': None,
   u'strand': u'm',
   u'uniprot_id': u'VAR_025602'},
  u'query': u'RCV000059118',
  u'snpeff': {u'ann': [{u'cdna': {u'length': u'2356', u'position': u'1606'},
     u'cds': {u'length': u'1356', u'position': u'1165'},
     u'effect': u'missense_variant',
     u'feature_id': u'NM_001164278.1',
     u'feature_type': u'transcript',
     u'gene_id': u'SLC37A4',
     u'gene_name': u'SLC37A4',
     u'hgvs_c': u'c.1165G>A',
     u'hgvs_p': u'p.Ala389Thr',
     u'protein': {u'length': u'451', u'position': u'389'},
     u'putative_impact': u'MODERATE',
     u'rank': u'11',
     u'total': u'12',
     u'transcript_biotype': u'Coding'},
    {u'cdna': {u'length': u'2048', u'position': u'1298'},
     u'cds': {u'length': u'1290', u'position': u'1099'},
     u'effect': u'missense_variant',
     u'feature_id': u'NM_001164280.1',
     u'feature_type': u'transcript',
     u'gene_id': u'SLC37A4',
     u'gene_name': u'SLC37A4',
     u'hgvs_c': u'c.1099G>A',
     u'hgvs_p': u'p.Ala367Thr',
     u'protein': {u'length': u'429', u'position': u'367'},
     u'putative_impact': u'MODERATE',
     u'rank': u'8',
     u'total': u'9',
     u'transcript_biotype': u'Coding'},
    {u'cdna': {u'length': u'2606', u'position': u'1856'},
     u'cds': {u'length': u'1290', u'position': u'1099'},
     u'effect': u'missense_variant',
     u'feature_id': u'NM_001164277.1',
     u'feature_type': u'transcript',
     u'gene_id': u'SLC37A4',
     u'gene_name': u'SLC37A4',
     u'hgvs_c': u'c.1099G>A',
     u'hgvs_p': u'p.Ala367Thr',
     u'protein': {u'length': u'429', u'position': u'367'},
     u'putative_impact': u'MODERATE',
     u'rank': u'10',
     u'total': u'11',
     u'transcript_biotype': u'Coding'},
    {u'cdna': {u'length': u'2032', u'position': u'1282'},
     u'cds': {u'length': u'1071', u'position': u'880'},
     u'effect': u'missense_variant',
     u'feature_id': u'NM_001164279.1',
     u'feature_type': u'transcript',
     u'gene_id': u'SLC37A4',
     u'gene_name': u'SLC37A4',
     u'hgvs_c': u'c.880G>A',
     u'hgvs_p': u'p.Ala294Thr',
     u'protein': {u'length': u'356', u'position': u'294'},
     u'putative_impact': u'MODERATE',
     u'rank': u'10',
     u'total': u'11',
     u'transcript_biotype': u'Coding'},
    {u'cdna': {u'length': u'2102', u'position': u'1352'},
     u'cds': {u'length': u'1290', u'position': u'1099'},
     u'effect': u'missense_variant',
     u'feature_id': u'NM_001467.5',
     u'feature_type': u'transcript',
     u'gene_id': u'SLC37A4',
     u'gene_name': u'SLC37A4',
     u'hgvs_c': u'c.1099G>A',
     u'hgvs_p': u'p.Ala367Thr',
     u'protein': {u'length': u'429', u'position': u'367'},
     u'putative_impact': u'MODERATE',
     u'rank': u'9',
     u'total': u'10',
     u'transcript_biotype': u'Coding'},
    {u'distance_to_feature': u'1540',
     u'effect': u'downstream_gene_variant',
     u'feature_id': u'NM_016146.4',
     u'feature_type': u'transcript',
     u'gene_id': u'TRAPPC4',
     u'gene_name': u'TRAPPC4',
     u'hgvs_c': u'c.*925C>T',
     u'putative_impact': u'MODIFIER',
     u'transcript_biotype': u'Coding'}]},
  u'vcf': {u'alt': u'T', u'position': u'118895925', u'ref': u'C'}},
 {u'_id': u'chr11:g.118895906G>T',
  u'_score': 16.533304,
  u'cadd': {u'_license': u'http://goo.gl/bkpNhq',
   u'alt': u'T',
   u'anc': u'G',
   u'annotype': u'CodingTranscript',
   u'bstatistic': 476,
   u'chmm': {u'bivflnk': 0.0,
    u'enh': 0.197,
    u'enhbiv': 0.0,
    u'het': 0.0,
    u'quies': 0.0,
    u'reprpc': 0.0,
    u'reprpcwk': 0.0,
    u'tssa': 0.0,
    u'tssaflnk': 0.0,
    u'tssbiv': 0.0,
    u'tx': 0.622,
    u'txflnk': 0.055,
    u'txwk': 0.11,
    u'znfrpts': 0.0},
   u'chrom': 11,
   u'consdetail': u'missense',
   u'consequence': u'NON_SYNONYMOUS',
   u'consscore': 7,
   u'cpg': 0.03,
   u'dna': {u'helt': 1.31, u'mgw': 0.37, u'prot': -0.6, u'roll': 5.46},
   u'dst2splice': 6,
   u'dst2spltype': u'DONOR',
   u'encode': {u'exp': 125.32,
    u'h3k27ac': 13.84,
    u'h3k4me1': 33.84,
    u'h3k4me3': 6.4,
    u'nucleo': 2.1,
    u'occ': 2,
    u'p_val': {u'comb': 0.95,
     u'ctcf': 0.0,
     u'dnas': 1.62,
     u'faire': 0.0,
     u'mycp': 0.0,
     u'polii': 0.0},
    u'sig': {u'ctcf': 0.03,
     u'dnase': 0.04,
     u'faire': 0.01,
     u'myc': 0.0,
     u'polii': 0.0}},
   u'exon': u'11/12',
   u'fitcons': 0.2838,
   u'gc': 0.53,
   u'gene': {u'cds': {u'cdna_pos': 1625,
     u'cds_pos': 1184,
     u'rel_cdna_pos': 0.69,
     u'rel_cds_pos': 0.87},
    u'feature_id': u'ENST00000357590',
    u'gene_id': u'ENSG00000137700',
    u'genename': u'SLC37A4',
    u'prot': {u'domain': u'tmhmm', u'protpos': 395, u'rel_prot_pos': 0.88}},
   u'gerp': {u'n': 5.27, u'rs': 2485.2, u'rs_pval': 2.73146e-114, u's': 5.27},
   u'grantham': 126,
   u'isderived': u'TRUE',
   u'isknownvariant': u'FALSE',
   u'istv': u'TRUE',
   u'length': 0,
   u'mapability': {u'20bp': 1, u'35bp': 1},
   u'min_dist_tse': 44,
   u'min_dist_tss': 3839,
   u'mutindex': 35,
   u'naa': u'D',
   u'oaa': u'A',
   u'phast_cons': {u'mammalian': 1.0, u'primate': 0.989, u'vertebrate': 1.0},
   u'phred': 33,
   u'phylop': {u'mammalian': 2.754, u'primate': 0.557, u'vertebrate': 5.928},
   u'polyphen': {u'cat': u'probably_damaging', u'val': 0.956},
   u'pos': 118895906,
   u'rawscore': 6.879844,
   u'ref': u'G',
   u'segway': u'GM1',
   u'sift': {u'cat': u'deleterious', u'val': 0},
   u'tf': {u'bs': 1, u'bs_peaks': 1, u'bs_peaks_max': 28.018},
   u'type': u'SNV'},
  u'clinvar': {u'allele_id': 79160,
   u'alt': u'T',
   u'chrom': u'11',
   u'cytogenic': u'11q23.3',
   u'gene': {u'id': u'2542', u'symbol': u'SLC37A4'},
   u'hg19': {u'end': 118895906, u'start': 118895906},
   u'hg38': {u'end': 119025196, u'start': 119025196},
   u'hgvs': {u'coding': [u'LRG_187t1:c.1118C>A', u'NM_001164277.1:c.1118C>A'],
    u'genomic': [u'LRG_187:g.10710C>A',
     u'NG_013331.1:g.10710C>A',
     u'NC_000011.10:g.119025196G>T',
     u'NC_000011.9:g.118895906G>T']},
   u'rcv': {u'accession': u'RCV000059119',
    u'clinical_significance': u'not provided',
    u'conditions': {u'identifiers': {u'medgen': u'CN221809'},
     u'name': u'not provided'},
    u'number_submitters': 1,
    u'origin': u'not provided',
    u'preferred_name': u'NM_001164277.1(SLC37A4):c.1118C>A (p.Ala373Asp)',
    u'review_status': u'no assertion provided'},
   u'ref': u'G',
   u'rsid': u'rs193302901',
   u'type': u'single nucleotide variant',
   u'uniprot': u'VAR_025603',
   u'variant_id': 68269},
  u'dbnsfp': {u'aa': {u'alt': u'D',
    u'codonpos': 2,
    u'pos': [u'395', u'300', u'373', u'373'],
    u'ref': u'A',
    u'refcodon': u'GCC'},
   u'alt': u'T',
   u'ancestral_allele': u'G',
   u'cds_strand': u'-',
   u'chrom': u'11',
   u'ensembl': {u'geneid': u'ENSG00000137700',
    u'proteinid': [u'ENSP00000476176',
     u'ENSP00000475991',
     u'ENSP00000475241',
     u'ENSP00000476242'],
    u'transcriptid': [u'ENST00000357590',
     u'ENST00000538950',
     u'ENST00000545985',
     u'ENST00000330775']},
   u'fathmm-mkl': {u'coding_group': u'AEFDBCIJ',
    u'coding_pred': u'D',
    u'coding_rankscore': 0.70831,
    u'coding_score': 0.96804},
   u'genename': u'SLC37A4',
   u'gerp++': {u'nr': 5.27, u'rs': 5.27, u'rs_rankscore': 0.73637},
   u'gm12878': {u'confidence_value': 0,
    u'fitcons_rankscore': 0.04325,
    u'fitcons_score': 0.278934},
   u'h1-hesc': {u'confidence_value': 0,
    u'fitcons_rankscore': 0.04794,
    u'fitcons_score': 0.299256},
   u'hg18': {u'end': 118401116, u'start': 118401116},
   u'hg19': {u'end': 118895906, u'start': 118895906},
   u'hg38': {u'end': 119025196, u'start': 119025196},
   u'huvec': {u'confidence_value': 0,
    u'fitcons_rankscore': 0.03188,
    u'fitcons_score': 0.119812},
   u'integrated': {u'confidence_value': 0,
    u'fitcons_rankscore': 0.04139,
    u'fitcons_score': 0.283894},
   u'interpro_domain': u'Major facilitator superfamily domain',
   u'mutationassessor': {u'pred': u'M',
    u'rankscore': 0.89652,
    u'score': 3.055},
   u'mutationtaster': {u'converted_rankscore': 0.81033,
    u'model': u'without_aae',
    u'pred': u'D',
    u'score': 1},
   u'phastcons': {u'20way': {u'mammalian': 1.0,
     u'mammalian_rankscore': 0.88722},
    u'7way': {u'vertebrate': 1.0, u'vertebrate_rankscore': 0.90892}},
   u'phylo': {u'p20way': {u'mammalian': 1.048,
     u'mammalian_rankscore': 0.71188},
    u'p7way': {u'vertebrate': 0.917, u'vertebrate_rankscore': 0.60462}},
   u'polyphen2': {u'hdiv': {u'pred': u'D',
     u'rankscore': 0.64686,
     u'score': [0.994, 0.989, 0.993, 0.989]},
    u'hvar': {u'pred': u'D',
     u'rankscore': 0.71516,
     u'score': [0.965, 0.965, 0.956, 0.974]}},
   u'ref': u'G',
   u'rsid': u'rs193302901',
   u'siphy_29way': {u'logodds': 18.6812,
    u'logodds_rankscore': 0.91448,
    u'pi': {u'a': 0.0, u'c': 0.0, u'g': 1.0, u't': 0.0}},
   u'uniprot': [{u'acc': u'B4DPL8', u'pos': u'357'},
    {u'acc': u'Q6IBR9', u'pos': u'373'},
    {u'acc': u'O43826-2', u'pos': u'395'},
    {u'acc': u'O43826', u'pos': u'373'}]},
  u'dbsnp': {u'allele_origin': u'unspecified',
   u'alleles': [{u'allele': u'G'}, {u'allele': u'C'}, {u'allele': u'T'}],
   u'alt': u'T',
   u'chrom': u'11',
   u'class': u'SNV',
   u'dbsnp_build': 135,
   u'flags': [u'ASP',
    u'LSD',
    u'NSM',
    u'PM',
    u'PMC',
    u'REF',
    u'RV',
    u'S3D',
    u'SLO'],
   u'gene': {u'geneid': u'2542', u'symbol': u'SLC37A4'},
   u'hg19': {u'end': 118895907, u'start': 118895906},
   u'ref': u'G',
   u'rsid': u'rs193302901',
   u'validated': False,
   u'var_subtype': u'unknown',
   u'vartype': u'snp'},
  u'mutdb': {u'alt': u'A',
   u'chrom': u'11',
   u'hg19': {u'end': 118895906, u'start': 118895906},
   u'mutpred_score': 0.82,
   u'ref': u'C',
   u'rsid': None,
   u'strand': u'm',
   u'uniprot_id': u'VAR_025603'},
  u'query': u'RCV000059119',
  u'snpeff': {u'ann': [{u'cdna': {u'length': u'2356', u'position': u'1625'},
     u'cds': {u'length': u'1356', u'position': u'1184'},
     u'effect': u'missense_variant',
     u'feature_id': u'NM_001164278.1',
     u'feature_type': u'transcript',
     u'gene_id': u'SLC37A4',
     u'gene_name': u'SLC37A4',
     u'hgvs_c': u'c.1184C>A',
     u'hgvs_p': u'p.Ala395Asp',
     u'protein': {u'length': u'451', u'position': u'395'},
     u'putative_impact': u'MODERATE',
     u'rank': u'11',
     u'total': u'12',
     u'transcript_biotype': u'Coding'},
    {u'cdna': {u'length': u'2048', u'position': u'1317'},
     u'cds': {u'length': u'1290', u'position': u'1118'},
     u'effect': u'missense_variant',
     u'feature_id': u'NM_001164280.1',
     u'feature_type': u'transcript',
     u'gene_id': u'SLC37A4',
     u'gene_name': u'SLC37A4',
     u'hgvs_c': u'c.1118C>A',
     u'hgvs_p': u'p.Ala373Asp',
     u'protein': {u'length': u'429', u'position': u'373'},
     u'putative_impact': u'MODERATE',
     u'rank': u'8',
     u'total': u'9',
     u'transcript_biotype': u'Coding'},
    {u'cdna': {u'length': u'2606', u'position': u'1875'},
     u'cds': {u'length': u'1290', u'position': u'1118'},
     u'effect': u'missense_variant',
     u'feature_id': u'NM_001164277.1',
     u'feature_type': u'transcript',
     u'gene_id': u'SLC37A4',
     u'gene_name': u'SLC37A4',
     u'hgvs_c': u'c.1118C>A',
     u'hgvs_p': u'p.Ala373Asp',
     u'protein': {u'length': u'429', u'position': u'373'},
     u'putative_impact': u'MODERATE',
     u'rank': u'10',
     u'total': u'11',
     u'transcript_biotype': u'Coding'},
    {u'cdna': {u'length': u'2032', u'position': u'1301'},
     u'cds': {u'length': u'1071', u'position': u'899'},
     u'effect': u'missense_variant',
     u'feature_id': u'NM_001164279.1',
     u'feature_type': u'transcript',
     u'gene_id': u'SLC37A4',
     u'gene_name': u'SLC37A4',
     u'hgvs_c': u'c.899C>A',
     u'hgvs_p': u'p.Ala300Asp',
     u'protein': {u'length': u'356', u'position': u'300'},
     u'putative_impact': u'MODERATE',
     u'rank': u'10',
     u'total': u'11',
     u'transcript_biotype': u'Coding'},
    {u'cdna': {u'length': u'2102', u'position': u'1371'},
     u'cds': {u'length': u'1290', u'position': u'1118'},
     u'effect': u'missense_variant',
     u'feature_id': u'NM_001467.5',
     u'feature_type': u'transcript',
     u'gene_id': u'SLC37A4',
     u'gene_name': u'SLC37A4',
     u'hgvs_c': u'c.1118C>A',
     u'hgvs_p': u'p.Ala373Asp',
     u'protein': {u'length': u'429', u'position': u'373'},
     u'putative_impact': u'MODERATE',
     u'rank': u'9',
     u'total': u'10',
     u'transcript_biotype': u'Coding'},
    {u'distance_to_feature': u'1521',
     u'effect': u'downstream_gene_variant',
     u'feature_id': u'NM_016146.4',
     u'feature_type': u'transcript',
     u'gene_id': u'TRAPPC4',
     u'gene_name': u'TRAPPC4',
     u'hgvs_c': u'c.*925G>T',
     u'putative_impact': u'MODIFIER',
     u'transcript_biotype': u'Coding'}]},
  u'vcf': {u'alt': u'T', u'position': u'118895906', u'ref': u'G'}},
 {u'_id': u'chr1:g.156105869_156105869del',
  u'_score': 16.53367,
  u'clinvar': {u'allele_id': 77674,
   u'alt': u'-',
   u'chrom': u'1',
   u'cytogenic': u'1q22',
   u'gene': {u'id': u'4000', u'symbol': u'LMNA'},
   u'hg19': {u'end': 156105869, u'start': 156105869},
   u'hg38': {u'end': 156136078, u'start': 156136078},
   u'hgvs': {u'coding': [u'LRG_254t1:c.1114delG',
     u'NM_005572.3:c.1114delG',
     u'NM_170707.3:c.1114delG',
     u'NM_170708.3:c.1114delG'],
    u'genomic': [u'LRG_254:g.58506delG',
     u'NG_008692.2:g.58506delG',
     u'NC_000001.11:g.156136078delG',
     u'NC_000001.10:g.156105869delG']},
   u'rcv': {u'accession': u'RCV000057234',
    u'clinical_significance': u'not provided',
    u'conditions': {u'identifiers': {u'medgen': u'CN221809'},
     u'name': u'not provided'},
    u'number_submitters': 1,
    u'origin': u'not provided',
    u'preferred_name': u'NM_005572.3(LMNA):c.1114delG (p.Glu372Argfs)',
    u'review_status': u'no assertion provided'},
   u'ref': u'G',
   u'rsid': u'rs267607575',
   u'type': u'Deletion',
   u'variant_id': 66777},
  u'query': u'RCV000057234',
  u'snpeff': {u'ann': [{u'cdna': {u'length': u'3227', u'position': u'1363'},
     u'cds': {u'length': u'1995', u'position': u'1114'},
     u'effect': u'frameshift_variant',
     u'feature_id': u'NM_170707.3',
     u'feature_type': u'transcript',
     u'gene_id': u'LMNA',
     u'gene_name': u'LMNA',
     u'hgvs_c': u'c.1114delG',
     u'hgvs_p': u'p.Glu372fs',
     u'protein': {u'length': u'664', u'position': u'372'},
     u'putative_impact': u'HIGH',
     u'rank': u'6',
     u'total': u'12',
     u'transcript_biotype': u'Coding'},
    {u'cdna': {u'length': u'2494', u'position': u'1787'},
     u'cds': {u'length': u'1719', u'position': u'1114'},
     u'effect': u'frameshift_variant',
     u'feature_id': u'NM_001282625.1',
     u'feature_type': u'transcript',
     u'gene_id': u'LMNA',
     u'gene_name': u'LMNA',
     u'hgvs_c': u'c.1114delG',
     u'hgvs_p': u'p.Glu372fs',
     u'protein': {u'length': u'572', u'position': u'372'},
     u'putative_impact': u'HIGH',
     u'rank': u'9',
     u'total': u'13',
     u'transcript_biotype': u'Coding'},
    {u'cdna': {u'length': u'2070', u'position': u'1363'},
     u'cds': {u'length': u'1719', u'position': u'1114'},
     u'effect': u'frameshift_variant',
     u'feature_id': u'NM_005572.3',
     u'feature_type': u'transcript',
     u'gene_id': u'LMNA',
     u'gene_name': u'LMNA',
     u'hgvs_c': u'c.1114delG',
     u'hgvs_p': u'p.Glu372fs',
     u'protein': {u'length': u'572', u'position': u'372'},
     u'putative_impact': u'HIGH',
     u'rank': u'6',
     u'total': u'10',
     u'transcript_biotype': u'Coding'},
    {u'cdna': {u'length': u'3077', u'position': u'1363'},
     u'cds': {u'length': u'1845', u'position': u'1114'},
     u'effect': u'frameshift_variant',
     u'feature_id': u'NM_001282626.1',
     u'feature_type': u'transcript',
     u'gene_id': u'LMNA',
     u'gene_name': u'LMNA',
     u'hgvs_c': u'c.1114delG',
     u'hgvs_p': u'p.Glu372fs',
     u'protein': {u'length': u'614', u'position': u'372'},
     u'putative_impact': u'HIGH',
     u'rank': u'6',
     u'total': u'12',
     u'transcript_biotype': u'Coding'},
    {u'cdna': {u'length': u'3137', u'position': u'1363'},
     u'cds': {u'length': u'1905', u'position': u'1114'},
     u'effect': u'frameshift_variant',
     u'feature_id': u'NM_170708.3',
     u'feature_type': u'transcript',
     u'gene_id': u'LMNA',
     u'gene_name': u'LMNA',
     u'hgvs_c': u'c.1114delG',
     u'hgvs_p': u'p.Glu372fs',
     u'protein': {u'length': u'634', u'position': u'372'},
     u'putative_impact': u'HIGH',
     u'rank': u'6',
     u'total': u'11',
     u'transcript_biotype': u'Coding'},
    {u'cdna': {u'length': u'1752', u'position': u'1045'},
     u'cds': {u'length': u'1476', u'position': u'871'},
     u'effect': u'frameshift_variant',
     u'feature_id': u'NM_001282624.1',
     u'feature_type': u'transcript',
     u'gene_id': u'LMNA',
     u'gene_name': u'LMNA',
     u'hgvs_c': u'c.871delG',
     u'hgvs_p': u'p.Glu291fs',
     u'protein': {u'length': u'491', u'position': u'291'},
     u'putative_impact': u'HIGH',
     u'rank': u'7',
     u'total': u'11',
     u'transcript_biotype': u'Coding'},
    {u'cdna': {u'length': u'2062', u'position': u'865'},
     u'cds': {u'length': u'1725', u'position': u'778'},
     u'effect': u'frameshift_variant',
     u'feature_id': u'NM_001257374.2',
     u'feature_type': u'transcript',
     u'gene_id': u'LMNA',
     u'gene_name': u'LMNA',
     u'hgvs_c': u'c.778delG',
     u'hgvs_p': u'p.Glu260fs',
     u'protein': {u'length': u'574', u'position': u'260'},
     u'putative_impact': u'HIGH',
     u'rank': u'6',
     u'total': u'13',
     u'transcript_biotype': u'Coding'},
    {u'effect': u'intron_variant',
     u'feature_id': u'NR_107005.1',
     u'feature_type': u'transcript',
     u'gene_id': u'MIR7851',
     u'gene_name': u'MIR7851',
     u'hgvs_c': u'n.43+23752delC',
     u'putative_impact': u'MODIFIER',
     u'rank': u'3',
     u'total': u'4',
     u'transcript_biotype': u'Noncoding'}],
   u'lof': {u'gene_id': u'LMNA',
    u'gene_name': u'LMNA',
    u'number_of_transcripts_in_gene': u'7',
    u'percent_of_transcripts_affected': u'1.00'}},
  u'vcf': {u'alt': u'G', u'position': u'156105868', u'ref': u'GG'}},
 {u'_id': u'chr14:g.23874929G>A',
  u'_score': 16.533554,
  u'cadd': {u'_license': u'http://goo.gl/bkpNhq',
   u'alt': u'A',
   u'anc': u'G',
   u'annotype': u'CodingTranscript',
   u'bstatistic': 653,
   u'chmm': {u'bivflnk': 0.0,
    u'enh': 0.008,
    u'enhbiv': 0.008,
    u'het': 0.008,
    u'quies': 0.339,
    u'reprpc': 0.189,
    u'reprpcwk': 0.394,
    u'tssa': 0.008,
    u'tssaflnk': 0.0,
    u'tssbiv': 0.0,
    u'tx': 0.008,
    u'txflnk': 0.016,
    u'txwk': 0.008,
    u'znfrpts': 0.0},
   u'chrom': 14,
   u'consdetail': u'synonymous',
   u'consequence': u'SYNONYMOUS',
   u'consscore': 5,
   u'cpg': 0.09,
   u'dna': {u'helt': -2.49, u'mgw': 0.36, u'prot': 1.47, u'roll': -1.24},
   u'encode': {u'h3k27ac': 1.52,
    u'h3k4me1': 6.8,
    u'h3k4me3': 2.0,
    u'nucleo': 2.0,
    u'occ': 2,
    u'p_val': {u'comb': 2.03,
     u'ctcf': 1.01,
     u'dnas': 2.74,
     u'faire': 0.74,
     u'mycp': 0.0,
     u'polii': 0.0},
    u'sig': {u'ctcf': 0.06,
     u'dnase': 0.07,
     u'faire': 0.01,
     u'myc': 0.0,
     u'polii': 0.0}},
   u'exon': u'4/39',
   u'fitcons': 0.527649,
   u'gc': 0.59,
   u'gene': {u'ccds_id': u'CCDS9600.1',
    u'cds': {u'cdna_pos': 323,
     u'cds_pos': 252,
     u'rel_cdna_pos': 0.05,
     u'rel_cds_pos': 0.04},
    u'feature_id': u'ENST00000405093',
    u'gene_id': u'ENSG00000197616',
    u'genename': u'MYH6',
    u'prot': {u'domain': u'ndomain', u'protpos': 84, u'rel_prot_pos': 0.04}},
   u'gerp': {u'n': 3.91, u'rs': 442.1, u'rs_pval': 2.08598e-40, u's': 3.91},
   u'isderived': u'TRUE',
   u'isknownvariant': u'FALSE',
   u'istv': u'FALSE',
   u'length': 0,
   u'mapability': {u'20bp': 0.5, u'35bp': 1},
   u'min_dist_tse': 6008,
   u'min_dist_tss': 1873,
   u'mutindex': 76,
   u'naa': u'F',
   u'oaa': u'F',
   u'phast_cons': {u'mammalian': 1.0, u'primate': 0.997, u'vertebrate': 1.0},
   u'phred': 15.44,
   u'phylop': {u'mammalian': 2.146, u'primate': 0.55, u'vertebrate': 2.112},
   u'pos': 23874929,
   u'rawscore': 1.875184,
   u'ref': u'G',
   u'segway': u'R5',
   u'type': u'SNV'},
  u'clinvar': {u'allele_id': 53632,
   u'alt': u'A',
   u'chrom': u'14',
   u'cytogenic': u'14q11.2',
   u'gene': {u'id': u'4624', u'symbol': u'MYH6'},
   u'hg19': {u'end': 23874929, u'start': 23874929},
   u'hg38': {u'end': 23405720, u'start': 23405720},
   u'hgvs': {u'coding': [u'LRG_389t1:c.252C>T', u'NM_002471.3:c.252C>T'],
    u'genomic': [u'LRG_389:g.7558C>T',
     u'NG_023444.1:g.7558C>T',
     u'NC_000014.9:g.23405720G>A',
     u'NC_000014.8:g.23874929G>A']},
   u'rcv': {u'accession': u'RCV000037456',
    u'clinical_significance': u'Likely benign',
    u'conditions': {u'identifiers': {u'medgen': u'CN169374'},
     u'name': u'not specified',
     u'synonyms': u'AllHighlyPenetrant'},
    u'last_evaluated': u'2012-05-10',
    u'number_submitters': 1,
    u'origin': u'germline',
    u'preferred_name': u'NM_002471.3(MYH6):c.252C>T (p.Phe84=)',
    u'review_status': u'criteria provided, single submitter'},
   u'ref': u'G',
   u'rsid': u'rs397516757',
   u'type': u'single nucleotide variant',
   u'variant_id': 44465},
  u'dbsnp': {u'allele_origin': u'unspecified',
   u'alleles': [{u'allele': u'G'}, {u'allele': u'A'}],
   u'alt': u'A',
   u'chrom': u'14',
   u'class': u'SNV',
   u'dbsnp_build': 138,
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   u'gene': {u'geneid': u'4624', u'symbol': u'MYH6'},
   u'hg19': {u'end': 23874930, u'start': 23874929},
   u'ref': u'G',
   u'rsid': u'rs397516757',
   u'validated': False,
   u'var_subtype': u'ts',
   u'vartype': u'snp'},
  u'query': u'RCV000037456',
  u'snpeff': {u'ann': {u'cdna': {u'length': u'5941', u'position': u'323'},
    u'cds': {u'length': u'5820', u'position': u'252'},
    u'effect': u'synonymous_variant',
    u'feature_id': u'NM_002471.3',
    u'feature_type': u'transcript',
    u'gene_id': u'MYH6',
    u'gene_name': u'MYH6',
    u'hgvs_c': u'c.252C>T',
    u'hgvs_p': u'p.Phe84Phe',
    u'protein': {u'length': u'1939', u'position': u'84'},
    u'putative_impact': u'LOW',
    u'rank': u'4',
    u'total': u'39',
    u'transcript_biotype': u'Coding'}},
  u'vcf': {u'alt': u'A', u'position': u'23874929', u'ref': u'G'}},
 {u'_id': u'chr6:g.26093141G>A',
  u'_score': 5.166686,
  u'cadd': {u'1000g': {u'af': 0.02, u'afr': 0.004, u'amr': 0.02, u'eur': 0.05},
   u'_license': u'http://goo.gl/bkpNhq',
   u'alt': u'A',
   u'anc': u'G',
   u'annotype': u'CodingTranscript',
   u'bstatistic': 495,
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    u'txwk': 0.315,
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   u'chrom': 6,
   u'consdetail': u'missense',
   u'consequence': u'NON_SYNONYMOUS',
   u'consscore': 7,
   u'cpg': 0.01,
   u'dna': {u'helt': -2.27, u'mgw': -0.1, u'prot': 1.4, u'roll': -0.45},
   u'encode': {u'exp': 72.66,
    u'h3k27ac': 4.88,
    u'h3k4me1': 7.52,
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    u'nucleo': 3.9},
   u'esp': {u'af': 0.048, u'afr': 0.015, u'eur': 0.064},
   u'exon': u'4/6',
   u'fitcons': 0.648707,
   u'gc': 0.59,
   u'gene': {u'ccds_id': u'CCDS4578.1',
    u'cds': {u'cdna_pos': 967,
     u'cds_pos': 845,
     u'rel_cdna_pos': 0.18,
     u'rel_cds_pos': 0.81},
    u'feature_id': u'ENST00000357618',
    u'gene_id': u'ENSG00000010704',
    u'genename': u'HFE',
    u'prot': {u'domain': u'ndomain', u'protpos': 282, u'rel_prot_pos': 0.81}},
   u'gerp': {u'n': 5.35, u'rs': 431.1, u'rs_pval': 3.05598e-45, u's': 5.35},
   u'grantham': 194,
   u'isderived': u'TRUE',
   u'isknownvariant': u'TRUE',
   u'istv': u'FALSE',
   u'length': 0,
   u'mapability': {u'20bp': 1, u'35bp': 1},
   u'min_dist_tse': 70,
   u'min_dist_tss': 36,
   u'mutindex': 3,
   u'naa': u'Y',
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   u'phast_cons': {u'mammalian': 0.993,
    u'primate': 0.364,
    u'vertebrate': 0.999},
   u'phred': 25.7,
   u'phylop': {u'mammalian': 2.938, u'primate': 0.651, u'vertebrate': 3.775},
   u'polyphen': {u'cat': u'probably_damaging', u'val': 0.915},
   u'pos': 26093141,
   u'rawscore': 5.269899,
   u'ref': u'G',
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   u'sift': {u'cat': u'deleterious', u'val': 0.03},
   u'type': u'SNV'},
  u'clinvar': {u'allele_id': 15048,
   u'alt': u'A',
   u'chrom': u'6',
   u'cytogenic': u'6p22.2',
   u'gene': {u'id': u'3077', u'symbol': u'HFE'},
   u'hg19': {u'end': 26093141, u'start': 26093141},
   u'hg38': {u'end': 26092913, u'start': 26092913},
   u'hgvs': {u'coding': [u'LRG_748t1:c.845G>A',
     u'NM_139011.2:c.77-206G>A',
     u'NM_000410.3:c.845G>A'],
    u'genomic': [u'LRG_748:g.10633G>A',
     u'NG_008720.2:g.10633G>A',
     u'NC_000006.12:g.26092913G>A',
     u'NC_000006.11:g.26093141G>A']},
   u'omim': u'613609.0001',
   u'rcv': [{u'accession': u'RCV000000019',
     u'clinical_significance': u'Pathogenic',
     u'conditions': {u'identifiers': {u'medgen': u'C0392514',
       u'omim': u'235200'},
      u'name': u'Hemochromatosis type 1 (HFE1)'},
     u'last_evaluated': u'2015-09-17',
     u'number_submitters': 6,
     u'origin': u'germline',
     u'preferred_name': u'NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)',
     u'review_status': u'criteria provided, multiple submitters, no conflicts'},
    {u'accession': u'RCV000000020',
     u'clinical_significance': u'risk factor',
     u'conditions': {u'name': u'Porphyria cutanea tarda, susceptibility to'},
     u'last_evaluated': u'2009-01-01',
     u'number_submitters': 1,
     u'origin': u'germline',
     u'preferred_name': u'NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)',
     u'review_status': u'no assertion criteria provided'},
    {u'accession': u'RCV000000021',
     u'clinical_significance': u'risk factor',
     u'conditions': {u'name': u'Porphyria variegata, susceptibility to'},
     u'last_evaluated': u'2009-01-01',
     u'number_submitters': 1,
     u'origin': u'germline',
     u'preferred_name': u'NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)',
     u'review_status': u'no assertion criteria provided'},
    {u'accession': u'RCV000000022',
     u'clinical_significance': u'Pathogenic',
     u'conditions': {u'name': u'Hemochromatosis, juvenile, digenic'},
     u'last_evaluated': u'2009-01-01',
     u'number_submitters': 1,
     u'origin': u'germline',
     u'preferred_name': u'NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)',
     u'review_status': u'no assertion criteria provided'},
    {u'accession': u'RCV000000023',
     u'clinical_significance': u'risk factor',
     u'conditions': {u'name': u'Alzheimer disease, susceptibility to'},
     u'last_evaluated': u'2009-01-01',
     u'number_submitters': 1,
     u'origin': u'germline',
     u'preferred_name': u'NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)',
     u'review_status': u'no assertion criteria provided'},
    {u'accession': u'RCV000000024',
     u'clinical_significance': u'association',
     u'conditions': {u'identifiers': {u'medgen': u'C3280096',
       u'omim': u'614193'},
      u'name': u'Transferrin serum level quantitative trait locus 2 (TFQTL2)'},
     u'last_evaluated': u'2009-01-01',
     u'number_submitters': 1,
     u'origin': u'germline',
     u'preferred_name': u'NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)',
     u'review_status': u'no assertion criteria provided'},
    {u'accession': u'RCV000000025',
     u'clinical_significance': u'risk factor',
     u'conditions': {u'identifiers': {u'medgen': u'C2673520',
       u'omim': u'612635'},
      u'name': u'Microvascular complications of diabetes 7 (MVCD7)',
      u'synonyms': [u'MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7',
       u'NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO',
       u'NONPROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO',
       u'PROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO']},
     u'last_evaluated': u'2009-01-01',
     u'number_submitters': 1,
     u'origin': u'germline',
     u'preferred_name': u'NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)',
     u'review_status': u'no assertion criteria provided'},
    {u'accession': u'RCV000117222',
     u'clinical_significance': u'Benign',
     u'conditions': {u'identifiers': {u'medgen': u'CN169374'},
      u'name': u'not specified',
      u'synonyms': u'AllHighlyPenetrant'},
     u'last_evaluated': u'2013-11-04',
     u'number_submitters': 1,
     u'origin': u'germline',
     u'preferred_name': u'NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)',
     u'review_status': u'criteria provided, single submitter'},
    {u'accession': u'RCV000178096',
     u'clinical_significance': u'not provided',
     u'conditions': {u'identifiers': {u'medgen': u'CN221809'},
      u'name': u'not provided'},
     u'last_evaluated': u'2014-10-13',
     u'number_submitters': 1,
     u'origin': u'germline',
     u'preferred_name': u'NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)',
     u'review_status': u'no assertion provided'}],
   u'ref': u'G',
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  u'dbnsfp': {u'1000gp3': {u'ac': 63,
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   u'aa': {u'alt': u'Y',
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     u'190',
     u'282',
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     u'176',
     u'268',
     u'180',
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    u'ref': u'C',
    u'refcodon': u'TGC'},
   u'alspac': {u'ac': 306, u'af': 0.07939802802283343},
   u'alt': u'A',
   u'ancestral_allele': u'G',
   u'cds_strand': u'+',
   u'chrom': u'6',
   u'clinvar': {u'clinsig': 5,
    u'rs': u'rs1800562',
    u'trait': u'Hereditary_hemochromatosis|Hemochromatosis\\x2c_juvenile\\x2c_digenic|not_specified'},
   u'ensembl': {u'geneid': u'ENSG00000010704',
    u'proteinid': [u'ENSP00000380217',
     u'ENSP00000312342',
     u'ENSP00000259699',
     u'ENSP00000313776',
     u'ENSP00000417404',
     u'ENSP00000419725',
     u'ENSP00000337819',
     u'ENSP00000420802',
     u'ENSP00000420559',
     u'ENSP00000311698'],
    u'transcriptid': [u'ENST00000397022',
     u'ENST00000353147',
     u'ENST00000349999',
     u'ENST00000317896',
     u'ENST00000357618',
     u'ENST00000470149',
     u'ENST00000336625',
     u'ENST00000461397',
     u'ENST00000488199',
     u'ENST00000309234']},
   u'esp6500': {u'aa_ac': 67,
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   u'exac': {u'ac': 3937,
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    u'afr_ac': 105,
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    u'amr_af': 0.01149,
    u'eas_ac': 1,
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    u'fin_ac': 213,
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   u'fathmm': {u'pred': [u'D',
     u'D',
     u'D',
     u'D',
     u'D',
     u'D',
     u'D',
     u'D',
     u'D',
     u'D'],
    u'rankscore': 0.95286,
    u'score': [-3.68,
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     -3.68,
     -3.68,
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     -3.68,
     -3.68,
     -3.68]},
   u'fathmm-mkl': {u'coding_group': u'AEFDBI',
    u'coding_pred': u'D',
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    u'coding_score': 0.94952},
   u'genename': u'HFE',
   u'gerp++': {u'nr': 5.35, u'rs': 5.35, u'rs_rankscore': 0.76149},
   u'gm12878': {u'confidence_value': 0,
    u'fitcons_rankscore': 0.5301,
    u'fitcons_score': 0.624146},
   u'h1-hesc': {u'confidence_value': 0,
    u'fitcons_rankscore': 0.34075,
    u'fitcons_score': 0.602189},
   u'hg18': {u'end': 26201120, u'start': 26201120},
   u'hg19': {u'end': 26093141, u'start': 26093141},
   u'hg38': {u'end': 26092913, u'start': 26092913},
   u'huvec': {u'confidence_value': 0,
    u'fitcons_rankscore': 0.34512,
    u'fitcons_score': 0.579976},
   u'integrated': {u'confidence_value': 0,
    u'fitcons_rankscore': 0.39376,
    u'fitcons_score': 0.623552},
   u'interpro_domain': [u'Immunoglobulin C1-set',
    u'Immunoglobulin-like domain',
    u'Immunoglobulin-like fold',
    u'Immunoglobulin/major histocompatibility complex, conserved site',
    u'MHC class I alpha chain, alpha1 alpha2 domains',
    u'MHC class I-like antigen recognition',
    u'MHC classes I/II-like antigen recognition protein'],
   u'lrt': {u'converted_rankscore': 0.62918,
    u'omega': 0.0,
    u'pred': u'D',
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   u'metalr': {u'pred': u'D', u'rankscore': 0.98433, u'score': 0.9518},
   u'metasvm': {u'pred': u'D', u'rankscore': 0.98682, u'score': 1.0733},
   u'mutationassessor': {u'pred': u'H',
    u'rankscore': 0.99134,
    u'score': 4.445},
   u'mutationtaster': {u'AAE': [u'C180Y',
     u'C194Y',
     u'C102Y',
     u'C268Y',
     u'C190Y',
     u'C259Y',
     u'C176Y',
     u'C282Y',
     u'C279Y',
     u'C282Y',
     u'.'],
    u'converted_rankscore': 0.81033,
    u'model': [u'simple_aae',
     u'simple_aae',
     u'simple_aae',
     u'simple_aae',
     u'simple_aae',
     u'simple_aae',
     u'simple_aae',
     u'simple_aae',
     u'simple_aae',
     u'simple_aae',
     u'without_aae'],
    u'pred': [u'A',
     u'A',
     u'A',
     u'A',
     u'A',
     u'A',
     u'A',
     u'A',
     u'A',
     u'A',
     u'A'],
    u'score': [1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1]},
   u'phastcons': {u'20way': {u'mammalian': 0.895,
     u'mammalian_rankscore': 0.37584},
    u'7way': {u'vertebrate': 0.669, u'vertebrate_rankscore': 0.28987}},
   u'phylo': {u'p20way': {u'mammalian': 1.048,
     u'mammalian_rankscore': 0.71188},
    u'p7way': {u'vertebrate': 0.917, u'vertebrate_rankscore': 0.60462}},
   u'polyphen2': {u'hdiv': {u'pred': [u'D',
      u'D',
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      u'D',
      u'D',
      u'P',
      u'D',
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     u'rankscore': 0.89865,
     u'score': [0.982, 1.0, 1.0, 1.0, 1.0, 0.951, 0.996, 0.993, 0.961]},
    u'hvar': {u'pred': [u'P', u'D', u'D', u'D', u'D', u'P', u'P', u'D', u'P'],
     u'rankscore': 0.91584,
     u'score': [0.756,
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   u'provean': {u'pred': u'D',
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     -8.33,
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   u'ref': u'G',
   u'reliability_index': 9,
   u'rsid': u'rs1800562',
   u'sift': {u'converted_rankscore': 0.91219, u'pred': u'D', u'score': 0.0},
   u'siphy_29way': {u'logodds': 14.7506,
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    u'pi': {u'a': 0.0, u'c': 0.0, u'g': 1.0, u't': 0.0}},
   u'twinsuk': {u'ac': 256, u'af': 0.06903991370010787},
   u'uniprot': [{u'acc': u'Q6B0J5', u'pos': u'279'},
    {u'acc': u'Q30201-6', u'pos': u'102'},
    {u'acc': u'Q30201-4', u'pos': u'180'},
    {u'acc': u'Q30201-7', u'pos': u'190'},
    {u'acc': u'Q30201-10', u'pos': u'176'},
    {u'acc': u'Q30201-3', u'pos': u'268'},
    {u'acc': u'Q30201-2', u'pos': u'194'},
    {u'acc': u'Q30201-5', u'pos': u'259'},
    {u'acc': u'Q30201', u'pos': u'282'}]},
  u'dbsnp': {u'allele_origin': u'germline',
   u'alleles': [{u'allele': u'G', u'freq': 0.9874},
    {u'allele': u'A', u'freq': 0.01258}],
   u'alt': u'A',
   u'chrom': u'6',
   u'class': u'SNV',
   u'dbsnp_build': 89,
   u'flags': [u'ASP',
    u'G5',
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    u'HD',
    u'INT',
    u'KGPhase1',
    u'KGPhase3',
    u'LSD',
    u'MTP',
    u'NSM',
    u'PM',
    u'PMC',
    u'REF',
    u'S3D',
    u'SLO'],
   u'gene': {u'geneid': u'3077', u'symbol': u'HFE'},
   u'gmaf': 0.01258,
   u'hg19': {u'end': 26093142, u'start': 26093141},
   u'ref': u'G',
   u'rsid': u'rs1800562',
   u'validated': True,
   u'var_subtype': u'ts',
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  u'evs': {u'allele_count': {u'african_american': {u'A': 67, u'G': 4339},
    u'all': {u'A': 618, u'G': 12388},
    u'european_american': {u'A': 551, u'G': 8049}},
   u'alt': u'A',
   u'avg_sample_read': 82,
   u'chimp_allele': u'G',
   u'chrom': 6,
   u'clinical_info': u'http://www.ncbi.nlm.nih.gov/sites/varvu?gene=3077&amp;rs=1800562|http://www.ncbi.nlm.nih.gov/omim/235200,235200|http://omim.org/entry/613609#0001|http://omim.org/entry/235200#0001|http://www.ncbi.nlm.nih.gov/pubmed?term=19084217,19820697,19820699,19862010,20686565,20858683,20927387,21665994,21785125,21943158,23263863',
   u'coding_dna_size': [231, 507, 978, 741, 783, 1005, 771, 729, 1047],
   u'conservation': {u'gerp': 5.3, u'phast_cons': 1.0},
   u'dbsnp_version': 89,
   u'filter_status': u'PASS',
   u'function_gvs': [u'intron',
    u'missense',
    u'missense',
    u'missense',
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    u'missense',
    u'missense',
    u'missense',
    u'missense'],
   u'gene': [{u'accession': u'NM_139011.2', u'symbol': u'HFE'},
    {u'accession': u'NM_139010.2', u'symbol': u'HFE'},
    {u'accession': u'NM_139009.2', u'symbol': u'HFE'},
    {u'accession': u'NM_139008.2', u'symbol': u'HFE'},
    {u'accession': u'NM_139007.2', u'symbol': u'HFE'},
    {u'accession': u'NM_139006.2', u'symbol': u'HFE'},
    {u'accession': u'NM_139004.2', u'symbol': u'HFE'},
    {u'accession': u'NM_139003.2', u'symbol': u'HFE'},
    {u'accession': u'NM_000410.3', u'symbol': u'HFE'}],
   u'genotype_count': {u'african_american': {u'AA': 1, u'AG': 65, u'GG': 2137},
    u'all_genotype': {u'AA': 19, u'AG': 580, u'GG': 5904},
    u'european_american': {u'AA': 18, u'AG': 515, u'GG': 3767}},
   u'gwas_pubmed_info': u'http://www.ncbi.nlm.nih.gov/pubmed?term=19084217,19820697,19820699,19862010,20686565,20858683,20927387,21483845,21665994,21785125,21943158,23263863',
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   u'hg38': {u'end': 26092913, u'start': 26092913},
   u'hgvs': [{u'coding': u'c.77-206G>A'},
    {u'coding': u'c.305G>A', u'protein': u'p.(C102Y)'},
    {u'coding': u'c.776G>A', u'protein': u'p.(C259Y)'},
    {u'coding': u'c.539G>A', u'protein': u'p.(C180Y)'},
    {u'coding': u'c.581G>A', u'protein': u'p.(C194Y)'},
    {u'coding': u'c.803G>A', u'protein': u'p.(C268Y)'},
    {u'coding': u'c.569G>A', u'protein': u'p.(C190Y)'},
    {u'coding': u'c.527G>A', u'protein': u'p.(C176Y)'},
    {u'coding': u'c.845G>A', u'protein': u'p.(C282Y)'}],
   u'ma_fin_percent': {u'african_american': 1.5207,
    u'all': 4.7517,
    u'european_american': 6.407},
   u'on_illumina_human_exome_chip': u'yes',
   u'polyphen2': [{u'class': u'u', u'score': u'n'},
    {u'class': u'p', u'score': u'r'},
    {u'class': u'p', u'score': u'r'},
    {u'class': u'p', u'score': u'r'},
    {u'class': u'p', u'score': u'r'},
    {u'class': u'p', u'score': u'r'},
    {u'class': u'p', u'score': u'r'},
    {u'class': u'p', u'score': u'r'},
    {u'class': u'p', u'score': u'r'}],
   u'ref': u'G',
   u'ref_base_ncbi': u'G',
   u'rsid': u'rs1800562'},
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    u'ac_adj': 3937,
    u'ac_afr': 105,
    u'ac_amr': 133,
    u'ac_eas': 1,
    u'ac_fin': 213,
    u'ac_nfe': 3427,
    u'ac_oth': 20,
    u'ac_sas': 38},
   u'af': 0.032,
   u'alleles': u'A',
   u'alt': u'A',
   u'an': {u'an': 121412,
    u'an_adj': 121394,
    u'an_afr': 10406,
    u'an_amr': 11572,
    u'an_eas': 8654,
    u'an_fin': 6608,
    u'an_nfe': 66734,
    u'an_oth': 908,
    u'an_sas': 16512},
   u'baseqranksum': -3.408,
   u'chrom': u'6',
   u'clippingranksum': -0.301,
   u'culprit': u'FS',
   u'dp': 1947210,
   u'fs': 0.0,
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   u'hom': {u'ac_hom': 120,
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    u'hom_amr': 2,
    u'hom_eas': 0,
    u'hom_fin': 7,
    u'hom_nfe': 109,
    u'hom_oth': 1,
    u'hom_sas': 0},
   u'inbreedingcoeff': 0.0198,
   u'mq': {u'mq': 59.63, u'mq0': 0, u'mqranksum': 0.137},
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   u'qd': 12.8,
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   u'readposranksum': 0.46,
   u'ref': u'G',
   u'type': u'snp',
   u'vqslod': 6.81},
  u'grasp': {u'creation_date': u'8/17/12',
   u'discovery': [{u'european': 19840, u'total_samples': 19840},
    {u'european': 459, u'total_samples': 459},
    {u'european': 459, u'total_samples': 459},
    {u'european': 459, u'total_samples': 459},
    {u'european': 459, u'total_samples': 459},
    {u'european': 4627, u'total_samples': 4627},
    {u'european': 4627, u'total_samples': 4627},
    {u'european': 4627, u'total_samples': 4627},
    {u'european': 4627, u'total_samples': 4627},
    {u'european': 4627, u'total_samples': 4627},
    {u'european': 4818, u'total_samples': 4818},
    {u'european': 4818, u'total_samples': 4818},
    {u'european': 4818, u'total_samples': 4818},
    {u'european': 4818, u'total_samples': 4818},
    {u'european': 4818, u'total_samples': 4818},
    {u'european': 4818, u'total_samples': 4818},
    {u'european': 24167, u'total_samples': 24167},
    {u'european': 24167, u'total_samples': 24167},
    {u'european': 24167, u'total_samples': 24167},
    {u'european': 24167, u'total_samples': 24167},
    {u'european': 24167, u'total_samples': 24167},
    {u'european': 67093, u'total_samples': 67093},
    {u'european': 100184, u'total_samples': 100184},
    {u'european': 100184, u'total_samples': 100184},
    {u'european': 46368, u'total_samples': 46368},
    {u'european': 46368, u'total_samples': 46368},
    {u'european': 46368, u'total_samples': 46368},
    {u'european': 46368, u'total_samples': 46368},
    {u'european': 46368, u'total_samples': 46368},
    {u'european': 46368, u'total_samples': 46368},
    {u'european': 133653, u'total_samples': 133653},
    {u'european': 3012, u'total_samples': 3012},
    {u'european': 3012, u'total_samples': 3012},
    {u'european': 6616, u'total_samples': 6616},
    {u'european': 6616, u'total_samples': 6616},
    {u'african': 7112, u'european': 23439, u'total_samples': 30551},
    {u'african': 7112, u'european': 23439, u'total_samples': 30551},
    {u'african': 7112, u'european': 23439, u'total_samples': 30551},
    {u'european': 2073, u'total_samples': 2073},
    {u'european': 679, u'total_samples': 679},
    {u'european': 679, u'total_samples': 679},
    {u'european': 679, u'total_samples': 679},
    {u'european': 679, u'total_samples': 679},
    {u'european': 679, u'total_samples': 679},
    {u'european': 679, u'total_samples': 679},
    {u'european': 679, u'total_samples': 679},
    {u'european': 5181, u'total_samples': 5181},
    {u'european': 1657, u'total_samples': 1657},
    {u'european': 1657, u'total_samples': 1657},
    {u'european': 1657, u'total_samples': 1657},
    {u'european': 1657, u'total_samples': 1657},
    {u'european': 1657, u'total_samples': 1657},
    {u'european': 1657, u'total_samples': 1657},
    {u'european': 1657, u'total_samples': 1657},
    {u'european': 1657, u'total_samples': 1657},
    {u'european': 1657, u'total_samples': 1657},
    {u'european': 1469, u'total_samples': 1469},
    {u'european': 1469, u'total_samples': 1469},
    {u'european': 1469, u'total_samples': 1469},
    {u'european': 69395, u'total_samples': 69395},
    {u'european': 69395, u'total_samples': 69395},
    {u'european': 11683, u'total_samples': 11683},
    {u'european': 11683, u'total_samples': 11683},
    {u'european': 874, u'total_samples': 874},
    {u'european': 707, u'total_samples': 707}],
   u'exclusively_male_female': u'n',
   u'gwas_ancestry_description': [u'European',
    u'Mixed',
    u'Mixed',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European',
    u'Mixed',
    u'Mixed',
    u'Mixed',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European',
    u'European'],
   u'hg19': {u'chr': 6, u'pos': 26093141},
   u'hupfield': u'Jan2014',
   u'in_gene': u'(HFE)',
   u'in_mirna_bs': u'(rs1800562(miR-564);(AF150664);(disrupts non-conserved site);GUWobble)',
   u'includes_male_female_only_analyses': u'n',
   u'initial_sample_description': [u'19840 EA individuals',
    u'459 EA twin pairs',
    u'459 EA twin pairs',
    u'459 EA twin pairs',
    u'459 EA twin pairs',
    u'4627 European individuals',
    u'4627 European individuals',
    u'4627 European individuals',
    u'4627 European individuals',
    u'4627 European individuals',
    u'4818 Australian siblings',
    u'4818 Australian siblings',
    u'4818 Australian siblings',
    u'4818 Australian siblings',
    u'4818 Australian siblings',
    u'4818 Australian siblings',
    u'24167 EA individuals',
    u'24167 EA individuals',
    u'24167 EA individuals',
    u'24167 EA individuals',
    u'24167 EA individuals',
    u'Up to 67093 EA individuals',
    u'Up to 100184 EA individuals',
    u'Up to 100184 EA individuals',
    u'Up to 46368 EA individuals',
    u'Up to 46368 EA individuals',
    u'Up to 46368 EA individuals',
    u'Up to 46368 EA individuals',
    u'Up to 46368 EA individuals',
    u'Up to 46368 EA individuals',
    u'133653 EA individuals',
    u'3012 EA individuals',
    u'3012 EA individuals',
    u'Up to 6616 EA individuals',
    u'Up to 6616 EA individuals',
    [u'23439 EA', u' 7112 AA'],
    [u'23439 EA', u' 7112 AA'],
    [u'23439 EA', u' 7112 AA'],
    [u'403 EA unrelated nonagenarians', u' 1670 controls'],
    [u'336 EA cases', u' 343 EA controls'],
    [u'336 EA cases', u' 343 EA controls'],
    [u'336 EA cases', u' 343 EA controls'],
    [u'336 EA cases', u' 343 EA controls'],
    [u'336 EA cases', u' 343 EA controls'],
    [u'336 EA cases', u' 343 EA controls'],
    [u'336 EA cases', u' 343 EA controls'],
    u'5181 Swiss individuals',
    u'1657 Italian individuals',
    u'1657 Italian individuals',
    u'1657 Italian individuals',
    u'1657 Italian individuals',
    u'1657 Italian individuals',
    u'1657 Italian individuals',
    u'1657 Italian individuals',
    u'1657 Italian individuals',
    u'1657 Italian individuals',
    [u'1469 unrelated European whole blood samples (473 healthy controls',
     u' 453 COPD patients',
     u' 383 ALS patients',
     u' 111 celiac patients',
     u' 49 ulcerative colitis patients)'],
    [u'1469 unrelated European whole blood samples (473 healthy controls',
     u' 453 COPD patients',
     u' 383 ALS patients',
     u' 111 celiac patients',
     u' 49 ulcerative colitis patients)'],
    [u'1469 unrelated European whole blood samples (473 healthy controls',
     u' 453 COPD patients',
     u' 383 ALS patients',
     u' 111 celiac patients',
     u' 49 ulcerative colitis patients)'],
    u'69395 EA individuals',
    u'69395 EA individuals',
    u'11683 Australian individuals',
    u'11683 Australian individuals',
    [u'467 EA cases', u' 407 EA controls'],
    u'707 EA cases'],
   u'last_curation_date': u'8/17/12',
   u'ls_snp': [u'(rs1800562;(1a6z',
    u'1de4);(A',
    u'A);(260',
    u'260);(C',
    u'C);(Y',
    u'Y);(+',
    u'+);(E',
    u'E);(0',
    u'0);(',
    u');(0.146057',
    u'0.133843);(0;0)))'],
   u'platform_snps_passing_qc': [u'Affymetrix & Illumina [~2600000] (imputed)',
    u'Illumina [315887]',
    u'Illumina [315887]',
    u'Illumina [315887]',
    u'Illumina [315887]',
    u'Affymetrix & Illumina [~2.11 million] (imputed)',
    u'Affymetrix & Illumina [~2.11 million] (imputed)',
    u'Affymetrix & Illumina [~2.11 million] (imputed)',
    u'Affymetrix & Illumina [~2.11 million] (imputed)',
    u'Affymetrix & Illumina [~2.11 million] (imputed)',
    u'Illumina & Perlegen [427037]',
    u'Illumina & Perlegen [427037]',
    u'Illumina & Perlegen [427037]',
    u'Illumina & Perlegen [427037]',
    u'Illumina & Perlegen [427037]',
    u'Illumina & Perlegen [427037]',
    u'Affymetrix & Illumina [~2.5 million] (imputed)',
    u'Affymetrix & Illumina [~2.5 million] (imputed)',
    u'Affymetrix & Illumina [~2.5 million] (imputed)',
    u'Affymetrix & Illumina [~2.5 million] (imputed)',
    u'Affymetrix & Illumina [~2.5 million] (imputed)',
    u'Affymetrix & Illumina [~2.5 million] (imputed)',
    [u'Affymetrix', u' Illumina & Perlegen [~2.6 million] (imputed)'],
    [u'Affymetrix', u' Illumina & Perlegen [~2.6 million] (imputed)'],
    u'Affymetrix & Illumina [~2.5 million] (imputed)',
    u'Affymetrix & Illumina [~2.5 million] (imputed)',
    u'Affymetrix & Illumina [~2.5 million] (imputed)',
    u'Affymetrix & Illumina [~2.5 million] (imputed)',
    u'Affymetrix & Illumina [~2.5 million] (imputed)',
    u'Affymetrix & Illumina [~2.5 million] (imputed)',
    [u'Affymetrix', u' Illumina & Perlegen [2834208] (imputed)'],
    u'Illumina [489421]',
    u'Illumina [489421]',
    u'Affymetrix & Illumina [~2.5 million] (imputed)',
    u'Affymetrix & Illumina [~2.5 million] (imputed)',
    u'Illumina [175000] (imputed)',
    u'Illumina [175000] (imputed)',
    u'Illumina [175000] (imputed)',
    u'Illumina [516721]',
    u'Illumina [331060]',
    u'Illumina [331060]',
    u'Illumina [331060]',
    u'Illumina [331060]',
    u'Illumina [331060]',
    u'Illumina [331060]',
    u'Illumina [331060]',
    u'Affymetrix [390631] (imputed)',
    u'Illumina [343866]',
    u'Illumina [343866]',
    u'Illumina [343866]',
    u'Illumina [343866]',
    u'Illumina [343866]',
    u'Illumina [343866]',
    u'Illumina [343866]',
    u'Illumina [343866]',
    u'Illumina [343866]',
    u'Illumina [289044]',
    u'Illumina [289044]',
    u'Illumina [289044]',
    [u'Affymetrix', u' Illumina & Perlegen [~2.5 million] (imputed)'],
    [u'Affymetrix', u' Illumina & Perlegen [~2.5 million] (imputed)'],
    [u'Illumina [610000] (imputed', u' unspecified)'],
    [u'Illumina [610000] (imputed', u' unspecified)'],
    u'Illumina [876476]',
    u'Illumina [500000] (unspecified)'],
   u'polyphen2': u'Q30201:C282Y;G>A;probablydamaging;1;0;0',
   u'publication': [{u'date_pub': u'12/7/2008',
     u'journal': u'Nat Genet',
     u'location_within_paper': u'FullScan',
     u'p_value': 0.0002503,
     u'paper_phenotype_categories': u'CVD risk factor (CVD RF);Lipids',
     u'paper_phenotype_description': u'Lipid level measurements',
     u'phenotype': u'LDL cholesterol',
     u'pmid': 19060906,
     u'snpid': u'rs1800562',
     u'title': u'Common variants at 30 loci contribute to polygenic dyslipidemia.'},
    {u'date_pub': u'12/17/2008',
     u'journal': u'Am J Hum Genet',
     u'location_within_paper': u'Table 3',
     u'p_value': 3.5e-11,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Serum',
     u'paper_phenotype_description': [u'Ferritin levels', u' in serum'],
     u'phenotype': u'Serum iron',
     u'pmid': 19084217,
     u'snpid': u'rs1800562',
     u'title': u'Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.'},
    {u'date_pub': u'12/17/2008',
     u'journal': u'Am J Hum Genet',
     u'location_within_paper': u'Table 3',
     u'p_value': 4.3e-15,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Serum',
     u'paper_phenotype_description': [u'Ferritin levels', u' in serum'],
     u'phenotype': u'Transferrin saturation',
     u'pmid': 19084217,
     u'snpid': u'rs1800562',
     u'title': u'Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.'},
    {u'date_pub': u'12/17/2008',
     u'journal': u'Am J Hum Genet',
     u'location_within_paper': u'Table 3',
     u'p_value': 4.5e-05,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Serum',
     u'paper_phenotype_description': [u'Ferritin levels', u' in serum'],
     u'phenotype': u'Serum ferritin',
     u'pmid': 19084217,
     u'snpid': u'rs1800562',
     u'title': u'Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.'},
    {u'date_pub': u'12/17/2008',
     u'journal': u'Am J Hum Genet',
     u'location_within_paper': u'Table S4',
     u'p_value': 1.09e-10,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Serum',
     u'paper_phenotype_description': [u'Ferritin levels', u' in serum'],
     u'phenotype': u'Serum transferrin',
     u'pmid': 19084217,
     u'snpid': u'rs1800562',
     u'title': u'Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.'},
    {u'date_pub': u'10/11/2009',
     u'journal': u'Nat Genet',
     u'location_within_paper': u'Table 1',
     u'p_value': 1.4e-23,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Platelet',
     u'paper_phenotype_description': [u'Blood cell counts and traits',
      u' in red and white blood cells'],
     u'phenotype': u'Mean corpuscular volume (MCV)',
     u'pmid': 19820697,
     u'snpid': u'rs1800562',
     u'title': u'A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.'},
    {u'date_pub': u'10/11/2009',
     u'journal': u'Nat Genet',
     u'location_within_paper': u'TableS4',
     u'p_value': 0.002,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Platelet',
     u'paper_phenotype_description': [u'Blood cell counts and traits',
      u' in red and white blood cells'],
     u'phenotype': u'Mean corpuscular hemoglobin concentration (MCHC) (g/dl)',
     u'pmid': 19820697,
     u'snpid': u'rs1800562',
     u'title': u'A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.'},
    {u'date_pub': u'10/11/2009',
     u'journal': u'Nat Genet',
     u'location_within_paper': u'TableS4',
     u'p_value': 0.00016,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Platelet',
     u'paper_phenotype_description': [u'Blood cell counts and traits',
      u' in red and white blood cells'],
     u'phenotype': u'Hemoglobin (Hb) (g/dl)',
     u'pmid': 19820697,
     u'snpid': u'rs1800562',
     u'title': u'A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.'},
    {u'date_pub': u'10/11/2009',
     u'journal': u'Nat Genet',
     u'location_within_paper': u'TableS4',
     u'p_value': 0.00022,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Platelet',
     u'paper_phenotype_description': [u'Blood cell counts and traits',
      u' in red and white blood cells'],
     u'phenotype': [u'Red blood cell count (RBC) (10^12/l', u' log)'],
     u'pmid': 19820697,
     u'snpid': u'rs1800562',
     u'title': u'A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.'},
    {u'date_pub': u'10/11/2009',
     u'journal': u'Nat Genet',
     u'location_within_paper': u'TableS4',
     u'p_value': 4.3e-22,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Platelet',
     u'paper_phenotype_description': [u'Blood cell counts and traits',
      u' in red and white blood cells'],
     u'phenotype': u'Mean corpuscular hemoglobin (MCH) (pg)',
     u'pmid': 19820697,
     u'snpid': u'rs1800562',
     u'title': u'A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.'},
    {u'date_pub': u'10/11/2009',
     u'journal': u'Nat Genet',
     u'location_within_paper': u'Table 1',
     u'p_value': 1.5e-08,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Serum',
     u'paper_phenotype_description': [u'Hemoglobin levels', u' in serum'],
     u'phenotype': u'Mean corpuscular volume (MCV)',
     u'pmid': 19820699,
     u'snpid': u'rs1800562',
     u'title': u'Common variants in TMPRSS6 are associated with iron status and erythrocyte volume.'},
    {u'date_pub': u'10/11/2009',
     u'journal': u'Nat Genet',
     u'location_within_paper': u'Table 1',
     u'p_value': 2.2e-53,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Serum',
     u'paper_phenotype_description': [u'Hemoglobin levels', u' in serum'],
     u'phenotype': u'Transferrin',
     u'pmid': 19820699,
     u'snpid': u'rs1800562',
     u'title': u'Common variants in TMPRSS6 are associated with iron status and erythrocyte volume.'},
    {u'date_pub': u'10/11/2009',
     u'journal': u'Nat Genet',
     u'location_within_paper': u'Table 1',
     u'p_value': 0.00034,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Serum',
     u'paper_phenotype_description': [u'Hemoglobin levels', u' in serum'],
     u'phenotype': u'Ferritin (log10)',
     u'pmid': 19820699,
     u'snpid': u'rs1800562',
     u'title': u'Common variants in TMPRSS6 are associated with iron status and erythrocyte volume.'},
    {u'date_pub': u'10/11/2009',
     u'journal': u'Nat Genet',
     u'location_within_paper': u'Table 1',
     u'p_value': 5.1e-07,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Serum',
     u'paper_phenotype_description': [u'Hemoglobin levels', u' in serum'],
     u'phenotype': u'Blood hemoglobin',
     u'pmid': 19820699,
     u'snpid': u'rs1800562',
     u'title': u'Common variants in TMPRSS6 are associated with iron status and erythrocyte volume.'},
    {u'date_pub': u'10/11/2009',
     u'journal': u'Nat Genet',
     u'location_within_paper': u'Table 1',
     u'p_value': 8.2e-19,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Serum',
     u'paper_phenotype_description': [u'Hemoglobin levels', u' in serum'],
     u'phenotype': u'Iron',
     u'pmid': 19820699,
     u'snpid': u'rs1800562',
     u'title': u'Common variants in TMPRSS6 are associated with iron status and erythrocyte volume.'},
    {u'date_pub': u'10/11/2009',
     u'journal': u'Nat Genet',
     u'location_within_paper': u'Table 1',
     u'p_value': 8.5e-50,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Serum',
     u'paper_phenotype_description': [u'Hemoglobin levels', u' in serum'],
     u'phenotype': u'Transferrin saturation with iron',
     u'pmid': 19820699,
     u'snpid': u'rs1800562',
     u'title': u'Common variants in TMPRSS6 are associated with iron status and erythrocyte volume.'},
    {u'date_pub': u'10/11/2009',
     u'journal': u'Nat Genet',
     u'location_within_paper': u'Table 3',
     u'p_value': 1.01e-46,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related',
     u'paper_phenotype_description': [u'Blood cell counts and traits',
      u' in red blood cells'],
     u'phenotype': u'Mean corpuscular volume (MCV)',
     u'pmid': 19862010,
     u'snpid': u'rs1800562',
     u'title': u'Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.'},
    {u'date_pub': u'10/11/2009',
     u'journal': u'Nat Genet',
     u'location_within_paper': u'Table 3',
     u'p_value': 5.74e-19,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related',
     u'paper_phenotype_description': [u'Blood cell counts and traits',
      u' in red blood cells'],
     u'phenotype': u'Hemoglobin (Hb)',
     u'pmid': 19862010,
     u'snpid': u'rs1800562',
     u'title': u'Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.'},
    {u'date_pub': u'10/11/2009',
     u'journal': u'Nat Genet',
     u'location_within_paper': u'Table 3',
     u'p_value': 7.2e-10,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related',
     u'paper_phenotype_description': [u'Blood cell counts and traits',
      u' in red blood cells'],
     u'phenotype': u'Hematocrit (Hct)',
     u'pmid': 19862010,
     u'snpid': u'rs1800562',
     u'title': u'Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.'},
    {u'date_pub': u'10/11/2009',
     u'journal': u'Nat Genet',
     u'location_within_paper': u'Table S3',
     u'p_value': 9.9e-16,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related',
     u'paper_phenotype_description': [u'Blood cell counts and traits',
      u' in red blood cells'],
     u'phenotype': u'Mean corpuscular hemoglobin (MCH)',
     u'pmid': 19862010,
     u'snpid': u'rs1800562',
     u'title': u'Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.'},
    {u'date_pub': u'10/11/2009',
     u'journal': u'Nat Genet',
     u'location_within_paper': u'Table S5A',
     u'p_value': 0.0274,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related',
     u'paper_phenotype_description': [u'Blood cell counts and traits',
      u' in red blood cells'],
     u'phenotype': u'Diastolic blood pressure (DBP)',
     u'pmid': 19862010,
     u'snpid': u'rs1800562',
     u'title': u'Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.'},
    {u'date_pub': u'4/11/2010',
     u'journal': u'Nat Genet',
     u'location_within_paper': u'Full Scan',
     u'p_value': 0.0063,
     u'paper_phenotype_categories': u'Renal;Chronic kidney disease;Quantitative trait(s)',
     u'paper_phenotype_description': u'Chronic kidney disease (CKD) and renal traits',
     u'phenotype': u'Serum creatinine',
     u'pmid': 20383146,
     u'snpid': u'rs1800562',
     u'title': u'New loci associated with kidney function and chronic kidney disease.'},
    {u'date_pub': u'8/5/2010',
     u'journal': u'Nature',
     u'location_within_paper': u'Table S19',
     u'p_value': 1.1e-08,
     u'paper_phenotype_categories': u'CVD risk factor (CVD RF);Lipids',
     u'paper_phenotype_description': u'Lipid level measurements',
     u'phenotype': u'Total cholesterol',
     u'pmid': 20686565,
     u'snpid': u'rs1800562',
     u'title': [u'Biological',
      u' clinical and population relevance of 95 loci for blood lipids.']},
    {u'date_pub': u'8/5/2010',
     u'journal': u'Nature',
     u'location_within_paper': u'Table S19',
     u'p_value': 2.7e-10,
     u'paper_phenotype_categories': u'CVD risk factor (CVD RF);Lipids',
     u'paper_phenotype_description': u'Lipid level measurements',
     u'phenotype': u'LDL cholesterol',
     u'pmid': 20686565,
     u'snpid': u'rs1800562',
     u'title': [u'Biological',
      u' clinical and population relevance of 95 loci for blood lipids.']},
    {u'date_pub': u'9/21/2010',
     u'journal': u'Diabetes',
     u'location_within_paper': u'Table 2',
     u'p_value': 2.59e-20,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related',
     u'paper_phenotype_description': [u'Hemoglobin (HbA1c',
      u' glycated hemoglobin levels)'],
     u'phenotype': u'Glycated Hemoglobin (HbA1c)',
     u'pmid': 20858683,
     u'snpid': u'rs1800562',
     u'title': u'Common variants at 10 genomic loci influence hemoglobin A\xe2??(C) levels via glycemic and nonglycemic pathways.'},
    {u'date_pub': u'9/21/2010',
     u'journal': u'Diabetes',
     u'location_within_paper': u'Table S3',
     u'p_value': 1.2e-11,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related',
     u'paper_phenotype_description': [u'Hemoglobin (HbA1c',
      u' glycated hemoglobin levels)'],
     u'phenotype': u'Iron',
     u'pmid': 20858683,
     u'snpid': u'rs1800562',
     u'title': u'Common variants at 10 genomic loci influence hemoglobin A\xe2??(C) levels via glycemic and nonglycemic pathways.'},
    {u'date_pub': u'9/21/2010',
     u'journal': u'Diabetes',
     u'location_within_paper': u'Table S3',
     u'p_value': 1.6e-12,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related',
     u'paper_phenotype_description': [u'Hemoglobin (HbA1c',
      u' glycated hemoglobin levels)'],
     u'phenotype': u'Mean corpuscular volume (MCV)',
     u'pmid': 20858683,
     u'snpid': u'rs1800562',
     u'title': u'Common variants at 10 genomic loci influence hemoglobin A\xe2??(C) levels via glycemic and nonglycemic pathways.'},
    {u'date_pub': u'9/21/2010',
     u'journal': u'Diabetes',
     u'location_within_paper': u'Table S3',
     u'p_value': 0.003,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related',
     u'paper_phenotype_description': [u'Hemoglobin (HbA1c',
      u' glycated hemoglobin levels)'],
     u'phenotype': u'Hemoglobin (Hb)',
     u'pmid': 20858683,
     u'snpid': u'rs1800562',
     u'title': u'Common variants at 10 genomic loci influence hemoglobin A\xe2??(C) levels via glycemic and nonglycemic pathways.'},
    {u'date_pub': u'9/21/2010',
     u'journal': u'Diabetes',
     u'location_within_paper': u'Table S3',
     u'p_value': 3.5e-14,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related',
     u'paper_phenotype_description': [u'Hemoglobin (HbA1c',
      u' glycated hemoglobin levels)'],
     u'phenotype': u'Mean corpuscular hemoglobin (MCH)',
     u'pmid': 20858683,
     u'snpid': u'rs1800562',
     u'title': u'Common variants at 10 genomic loci influence hemoglobin A\xe2??(C) levels via glycemic and nonglycemic pathways.'},
    {u'date_pub': u'9/21/2010',
     u'journal': u'Diabetes',
     u'location_within_paper': u'Table S3',
     u'p_value': 3.5e-15,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related',
     u'paper_phenotype_description': [u'Hemoglobin (HbA1c',
      u' glycated hemoglobin levels)'],
     u'phenotype': u'Transferrin',
     u'pmid': 20858683,
     u'snpid': u'rs1800562',
     u'title': u'Common variants at 10 genomic loci influence hemoglobin A\xe2??(C) levels via glycemic and nonglycemic pathways.'},
    {u'date_pub': u'9/29/2010',
     u'journal': u'Nature',
     u'location_within_paper': u'Full Data',
     u'p_value': 0.00947,
     u'paper_phenotype_categories': u'Quantitative trait(s);Height',
     u'paper_phenotype_description': u'Height',
     u'phenotype': u'Height',
     u'pmid': 20881960,
     u'snpid': u'rs1800562',
     u'title': u'Hundreds of variants clustered in genomic loci and biological pathways affect human height.'},
    {u'date_pub': u'9/28/2010',
     u'journal': u'PLoS One',
     u'location_within_paper': u'Table 3',
     u'p_value': 2.76e-09,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related',
     u'paper_phenotype_description': [u'Blood cell counts and traits',
      u' in red blood cells'],
     u'phenotype': u'Mean corpuscular hemoglobin (MCH)',
     u'pmid': 20927387,
     u'snpid': u'rs1800562',
     u'title': u'A genome-wide association study of red blood cell traits using the electronic medical record.'},
    {u'date_pub': u'9/28/2010',
     u'journal': u'PLoS One',
     u'location_within_paper': u'Table 3',
     u'p_value': 5.84e-07,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related',
     u'paper_phenotype_description': [u'Blood cell counts and traits',
      u' in red blood cells'],
     u'phenotype': u'Mean corpuscular volume (MCV)',
     u'pmid': 20927387,
     u'snpid': u'rs1800562',
     u'title': u'A genome-wide association study of red blood cell traits using the electronic medical record.'},
    {u'date_pub': u'12/10/2010',
     u'journal': u'Hum Mol Genet',
     u'location_within_paper': u'Table S4',
     u'p_value': 1.17e-09,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Serum',
     u'paper_phenotype_description': [u'Ferritin and soluble transferrin receptor levels',
      u' in serum'],
     u'phenotype': u'Soluble transferrin receptor',
     u'pmid': 21149283,
     u'snpid': u'rs1800562',
     u'title': u'Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.'},
    {u'date_pub': u'12/10/2010',
     u'journal': u'Hum Mol Genet',
     u'location_within_paper': u'Table S5',
     u'p_value': 3.02e-09,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Serum',
     u'paper_phenotype_description': [u'Ferritin and soluble transferrin receptor levels',
      u' in serum'],
     u'phenotype': u'Serum ferritin',
     u'pmid': 21149283,
     u'snpid': u'rs1800562',
     u'title': u'Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.'},
    {u'date_pub': u'12/12/2010',
     u'journal': u'Hum Genet',
     u'location_within_paper': u'Table 3',
     u'p_value': 1.4e-15,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Platelet',
     u'paper_phenotype_description': [u'Blood cell counts and traits',
      u' in red and white blood cells'],
     u'phenotype': u'Hemoglobin (Hb)',
     u'pmid': 21153663,
     u'snpid': u'rs1800562',
     u'title': u'Genetic association analysis highlights new loci that modulate hematological'},
    {u'date_pub': u'12/12/2010',
     u'journal': u'Hum Genet',
     u'location_within_paper': u'Table 3',
     u'p_value': 2.5e-10,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Platelet',
     u'paper_phenotype_description': [u'Blood cell counts and traits',
      u' in red and white blood cells'],
     u'phenotype': u'Hematocrit (Hct)',
     u'pmid': 21153663,
     u'snpid': u'rs1800562',
     u'title': u'Genetic association analysis highlights new loci that modulate hematological'},
    {u'date_pub': u'12/12/2010',
     u'journal': u'Hum Genet',
     u'location_within_paper': u'Table 3',
     u'p_value': 6.8e-16,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Platelet',
     u'paper_phenotype_description': [u'Blood cell counts and traits',
      u' in red and white blood cells'],
     u'phenotype': u'Mean corpuscular volume (MCV)',
     u'pmid': 21153663,
     u'snpid': u'rs1800562',
     u'title': u'Genetic association analysis highlights new loci that modulate hematological'},
    {u'date_pub': u'3/12/2011',
     u'journal': u'Aging Cell',
     u'location_within_paper': u'Table S4',
     u'p_value': 0.022,
     u'paper_phenotype_categories': u'Aging;Mortality',
     u'paper_phenotype_description': u'Longevity',
     u'phenotype': u'Longevity',
     u'pmid': 21418511,
     u'snpid': u'rs1800562',
     u'title': u'Genome-wide association study identifies a single major locus contributing to'},
    {u'date_pub': u'3/31/2011',
     u'journal': u'PLoS One',
     u'location_within_paper': u'Table 2',
     u'p_value': 0.00016,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related',
     u'paper_phenotype_description': u'Iron deficiency',
     u'phenotype': u'Iron deficiency (transferrin saturation)',
     u'pmid': 21483845,
     u'snpid': u'rs1800562',
     u'title': u'Genome-wide association study identifies genetic loci associated with iron'},
    {u'date_pub': u'3/31/2011',
     u'journal': u'PLoS One',
     u'location_within_paper': u'Table 2',
     u'p_value': 1.93e-05,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related',
     u'paper_phenotype_description': u'Iron deficiency',
     u'phenotype': u'Iron deficiency (Serum iron)',
     u'pmid': 21483845,
     u'snpid': u'rs1800562',
     u'title': u'Genome-wide association study identifies genetic loci associated with iron'},
    {u'date_pub': u'3/31/2011',
     u'journal': u'PLoS One',
     u'location_within_paper': u'Table 2',
     u'p_value': 0.022,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related',
     u'paper_phenotype_description': u'Iron deficiency',
     u'phenotype': u'Iron deficiency (Body iron)',
     u'pmid': 21483845,
     u'snpid': u'rs1800562',
     u'title': u'Genome-wide association study identifies genetic loci associated with iron'},
    {u'date_pub': u'3/31/2011',
     u'journal': u'PLoS One',
     u'location_within_paper': u'Table 2',
     u'p_value': 2.68e-08,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related',
     u'paper_phenotype_description': u'Iron deficiency',
     u'phenotype': u'Iron deficiency (total iron-binding capacity)',
     u'pmid': 21483845,
     u'snpid': u'rs1800562',
     u'title': u'Genome-wide association study identifies genetic loci associated with iron'},
    {u'date_pub': u'3/31/2011',
     u'journal': u'PLoS One',
     u'location_within_paper': u'Table 2',
     u'p_value': 0.039,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related',
     u'paper_phenotype_description': u'Iron deficiency',
     u'phenotype': u'Iron deficiency (serum ferritin concentration)',
     u'pmid': 21483845,
     u'snpid': u'rs1800562',
     u'title': u'Genome-wide association study identifies genetic loci associated with iron'},
    {u'date_pub': u'3/31/2011',
     u'journal': u'PLoS One',
     u'location_within_paper': u'Table 2',
     u'p_value': 5.72e-10,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related',
     u'paper_phenotype_description': u'Iron deficiency',
     u'phenotype': u'Iron deficiency (unsaturated iron-binding capacity)',
     u'pmid': 21483845,
     u'snpid': u'rs1800562',
     u'title': u'Genome-wide association study identifies genetic loci associated with iron'},
    {u'date_pub': u'3/31/2011',
     u'journal': u'PLoS One',
     u'location_within_paper': u'Table 2',
     u'p_value': 0.0072,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related',
     u'paper_phenotype_description': u'Iron deficiency',
     u'phenotype': u'Iron deficiency (serum transferrin receptor)',
     u'pmid': 21483845,
     u'snpid': u'rs1800562',
     u'title': u'Genome-wide association study identifies genetic loci associated with iron'},
    {u'date_pub': u'6/10/2011',
     u'journal': u'Hum Mol Genet',
     u'location_within_paper': u'Table 2',
     u'p_value': 2.13e-32,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Serum',
     u'paper_phenotype_description': [u'Transferrin glycosylation',
      u' in serum'],
     u'phenotype': u'Transferrin',
     u'pmid': 21665994,
     u'snpid': u'rs1800562',
     u'title': u'Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.'},
    {u'date_pub': u'7/25/2011',
     u'journal': u'J Med Genet',
     u'location_within_paper': u'Table3',
     u'p_value': 1.64e-10,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Serum',
     u'paper_phenotype_description': [u'Hepcidin', u' in serum'],
     u'phenotype': u'Ferritin (log10)',
     u'pmid': 21785125,
     u'snpid': u'rs1800562',
     u'title': u'Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.'},
    {u'date_pub': u'7/25/2011',
     u'journal': u'J Med Genet',
     u'location_within_paper': u'Table3',
     u'p_value': 0.000636,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Serum',
     u'paper_phenotype_description': [u'Hepcidin', u' in serum'],
     u'phenotype': u'Log10(hepcidin/ferritin)',
     u'pmid': 21785125,
     u'snpid': u'rs1800562',
     u'title': u'Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.'},
    {u'date_pub': u'7/25/2011',
     u'journal': u'J Med Genet',
     u'location_within_paper': u'TableS5',
     u'p_value': 0.00113,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Serum',
     u'paper_phenotype_description': [u'Hepcidin', u' in serum'],
     u'phenotype': u'Mean corpuscular hemoglobin concentration (MCHC)',
     u'pmid': 21785125,
     u'snpid': u'rs1800562',
     u'title': u'Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.'},
    {u'date_pub': u'7/25/2011',
     u'journal': u'J Med Genet',
     u'location_within_paper': u'TableS5',
     u'p_value': 0.0145,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Serum',
     u'paper_phenotype_description': [u'Hepcidin', u' in serum'],
     u'phenotype': u'Mean corpuscular volume (MCV)',
     u'pmid': 21785125,
     u'snpid': u'rs1800562',
     u'title': u'Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.'},
    {u'date_pub': u'7/25/2011',
     u'journal': u'J Med Genet',
     u'location_within_paper': u'TableS5',
     u'p_value': 1.7e-05,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Serum',
     u'paper_phenotype_description': [u'Hepcidin', u' in serum'],
     u'phenotype': u'Mean corpuscular hemoglobin (MCH)',
     u'pmid': 21785125,
     u'snpid': u'rs1800562',
     u'title': u'Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.'},
    {u'date_pub': u'7/25/2011',
     u'journal': u'J Med Genet',
     u'location_within_paper': u'TableS5',
     u'p_value': 2.64e-15,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Serum',
     u'paper_phenotype_description': [u'Hepcidin', u' in serum'],
     u'phenotype': u'Transferrin saturation',
     u'pmid': 21785125,
     u'snpid': u'rs1800562',
     u'title': u'Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.'},
    {u'date_pub': u'7/25/2011',
     u'journal': u'J Med Genet',
     u'location_within_paper': u'TableS5',
     u'p_value': 3.95e-09,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Serum',
     u'paper_phenotype_description': [u'Hepcidin', u' in serum'],
     u'phenotype': u'Iron',
     u'pmid': 21785125,
     u'snpid': u'rs1800562',
     u'title': u'Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.'},
    {u'date_pub': u'7/25/2011',
     u'journal': u'J Med Genet',
     u'location_within_paper': u'TableS5',
     u'p_value': 0.0428,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Serum',
     u'paper_phenotype_description': [u'Hepcidin', u' in serum'],
     u'phenotype': u'Hemoglobin (Hb)',
     u'pmid': 21785125,
     u'snpid': u'rs1800562',
     u'title': u'Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.'},
    {u'date_pub': u'7/25/2011',
     u'journal': u'J Med Genet',
     u'location_within_paper': u'TableS5',
     u'p_value': 4.95e-11,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Serum',
     u'paper_phenotype_description': [u'Hepcidin', u' in serum'],
     u'phenotype': u'Transferrin',
     u'pmid': 21785125,
     u'snpid': u'rs1800562',
     u'title': u'Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.'},
    {u'date_pub': u'8/4/2011',
     u'journal': u'PLoS Genet',
     u'location_within_paper': u'TableS7',
     u'p_value': 2.9e-07,
     u'paper_phenotype_categories': u'Quantitative trait(s);Gene expression (RNA);Blood-related',
     u'paper_phenotype_description': u'Gene expression in blood cells',
     u'phenotype': u'Gene expression of ALAS2 in blood',
     u'pmid': 21829388,
     u'snpid': u'rs1800562',
     u'title': u'Trans-eQTLs Reveal That Independent Genetic Variants Associated with a Complex'},
    {u'date_pub': u'8/4/2011',
     u'journal': u'PLoS Genet',
     u'location_within_paper': u'TableS7',
     u'p_value': 4.4e-06,
     u'paper_phenotype_categories': u'Quantitative trait(s);Gene expression (RNA);Blood-related',
     u'paper_phenotype_description': u'Gene expression in blood cells',
     u'phenotype': u'Gene expression of [probe 2940446 centered at chr20:36199875] in blood',
     u'pmid': 21829388,
     u'snpid': u'rs1800562',
     u'title': u'Trans-eQTLs Reveal That Independent Genetic Variants Associated with a Complex'},
    {u'date_pub': u'8/4/2011',
     u'journal': u'PLoS Genet',
     u'location_within_paper': u'TableS7',
     u'p_value': 8.6e-06,
     u'paper_phenotype_categories': u'Quantitative trait(s);Gene expression (RNA);Blood-related',
     u'paper_phenotype_description': u'Gene expression in blood cells',
     u'phenotype': u'Gene expression of ADHFE1 in blood',
     u'pmid': 21829388,
     u'snpid': u'rs1800562',
     u'title': u'Trans-eQTLs Reveal That Independent Genetic Variants Associated with a Complex'},
    {u'date_pub': u'9/11/2011',
     u'journal': u'Nature',
     u'location_within_paper': u'TableS4',
     u'p_value': 0.01592528,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood pressure;CVD risk factor (CVD RF)',
     u'paper_phenotype_description': u'Blood pressure',
     u'phenotype': u'Systolic blood pressure (SBP)',
     u'pmid': 21909115,
     u'snpid': u'rs1800562',
     u'title': u'Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.'},
    {u'date_pub': u'9/11/2011',
     u'journal': u'Nature',
     u'location_within_paper': u'TableS4',
     u'p_value': 7.26329e-07,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood pressure;CVD risk factor (CVD RF)',
     u'paper_phenotype_description': u'Blood pressure',
     u'phenotype': u'Diastolic blood pressure (DBP)',
     u'pmid': 21909115,
     u'snpid': u'rs1800562',
     u'title': u'Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.'},
    {u'date_pub': u'9/24/2011',
     u'journal': u'BMC Med Genet',
     u'location_within_paper': u'Table S4',
     u'p_value': 4.7e-12,
     u'paper_phenotype_categories': u'Quantitative trait(s);CVD risk factor (CVD RF);Lipids;Weight;Body mass index;Hepatic;Blood-related;C-reactive protein (CRP)',
     u'paper_phenotype_description': [u'Biomarkers (liver function',
      u' butrylycholinesterase',
      u' CRP',
      u' ferritin',
      u' glucose',
      u' HDL cholesterol',
      u' insulin',
      u' LDL cholesterol',
      u' triglycerides',
      u' uric acid)',
      u' body mass index (BMI)'],
     u'phenotype': u'Ferritin',
     u'pmid': 21943158,
     u'snpid': u'rs1800562',
     u'title': [u'Genetic variants in LPL',
      u' OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.']},
    {u'date_pub': u'9/24/2011',
     u'journal': u'BMC Med Genet',
     u'location_within_paper': u'Table S4',
     u'p_value': 0.008,
     u'paper_phenotype_categories': u'Quantitative trait(s);CVD risk factor (CVD RF);Lipids;Weight;Body mass index;Hepatic;Blood-related;C-reactive protein (CRP)',
     u'paper_phenotype_description': [u'Biomarkers (liver function',
      u' butrylycholinesterase',
      u' CRP',
      u' ferritin',
      u' glucose',
      u' HDL cholesterol',
      u' insulin',
      u' LDL cholesterol',
      u' triglycerides',
      u' uric acid)',
      u' body mass index (BMI)'],
     u'phenotype': u'LDL cholesterol',
     u'pmid': 21943158,
     u'snpid': u'rs1800562',
     u'title': [u'Genetic variants in LPL',
      u' OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.']},
    {u'date_pub': u'11/5/2011',
     u'journal': u'Psychiatr Genet',
     u'location_within_paper': u'TableS1',
     u'p_value': 0.02562,
     u'paper_phenotype_categories': u'Neuro;Behavioral;Depression;Alcohol;Addiction',
     u'paper_phenotype_description': u'Comorbid depressive syndrome and alcohol dependence',
     u'phenotype': u'Comorbid depressive syndrome and alcohol dependence',
     u'pmid': 22064162,
     u'snpid': u'rs1800562',
     u'title': u'Genome-wide association study of comorbid depressive syndrome and alcohol dependence.'},
    {u'date_pub': u'11/16/2011',
     u'journal': u'Hepatology',
     u'location_within_paper': u'Table 6',
     u'p_value': 0.033,
     u'paper_phenotype_categories': u'Quantitative trait(s);Blood-related;Serum',
     u'paper_phenotype_description': [u'Ferritin levels', u' in serum'],
     u'phenotype': u'Serum ferritin levels in HCV-infected individuals',
     u'pmid': 22095909,
     u'snpid': u'rs1800562',
     u'title': u'Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy.'}],
   u'replication': [{u'european': 20623, u'total_samples': 20623},
    {u'european': 9316, u'total_samples': 9316},
    {u'european': 9316, u'total_samples': 9316},
    {u'european': 9316, u'total_samples': 9316},
    {u'european': 9316, u'total_samples': 9316},
    {u'european': 9316, u'total_samples': 9316},
    {u'european': 3470, u'total_samples': 3470},
    {u'european': 3470, u'total_samples': 3470},
    {u'european': 3470, u'total_samples': 3470},
    {u'european': 3470, u'total_samples': 3470},
    {u'european': 3470, u'total_samples': 3470},
    {u'european': 3470, u'total_samples': 3470},
    {u'european': 9456, u'total_samples': 9456},
    {u'european': 9456, u'total_samples': 9456},
    {u'european': 9456, u'total_samples': 9456},
    {u'european': 9456, u'total_samples': 9456},
    {u'european': 9456, u'total_samples': 9456},
    {u'european': 22982, u'total_samples': 22982},
    {u'african': 8061,
     u'east_asian': 15046,
     u'european': 7063,
     u'indian_south_asian': 9705,
     u'total_samples': 39875},
    {u'african': 8061,
     u'east_asian': 15046,
     u'european': 7063,
     u'indian_south_asian': 9705,
     u'total_samples': 39875},
    {u'european': 50074, u'total_samples': 50074},
    {u'european': 11731, u'total_samples': 11731},
    {u'european': 232, u'total_samples': 232},
    {u'european': 232, u'total_samples': 232},
    {u'european': 232, u'total_samples': 232},
    {u'european': 232, u'total_samples': 232},
    {u'european': 232, u'total_samples': 232},
    {u'european': 232, u'total_samples': 232},
    {u'european': 232, u'total_samples': 232},
    {u'european': 2284, u'total_samples': 2284},
    {u'european': 1786, u'total_samples': 1786},
    {u'european': 1786, u'total_samples': 1786},
    {u'european': 1786, u'total_samples': 1786},
    {u'european': 133661, u'total_samples': 133661},
    {u'european': 133661, u'total_samples': 133661}],
   u'replication_sample_description': [u'Up to 20623 EA individuals',
    u'NR',
    u'NR',
    u'NR',
    u'NR',
    u'9316 European individuals',
    u'9316 European individuals',
    u'9316 European individuals',
    u'9316 European individuals',
    u'9316 European individuals',
    u'3470 Dutch individuals',
    u'3470 Dutch individuals',
    u'3470 Dutch individuals',
    u'3470 Dutch individuals',
    u'3470 Dutch individuals',
    u'3470 Dutch individuals',
    u'9456 EA individuals',
    u'9456 EA individuals',
    u'9456 EA individuals',
    u'9456 EA individuals',
    u'9456 EA individuals',
    u'Up to 22982 EA individuals',
    [u'9705 South Asians',
     u' 15046 East Asians',
     u' 8061 African Americans',
     u' 7063 Europeans'],
    [u'9705 South Asians',
     u' 15046 East Asians',
     u' 8061 African Americans',
     u' 7063 Europeans'],
    u'NR',
    u'NR',
    u'NR',
    u'NR',
    u'NR',
    u'NR',
    u'50074 EA individuals',
    u'NR',
    u'NR',
    u'NR',
    u'NR',
    u'NR',
    u'NR',
    u'NR',
    [u'4149 EA (specified or presumed) nonagenarian cases', u' 7582 controls'],
    u'71 EA cases and 161 EA controls',
    u'71 EA cases and 161 EA controls',
    u'71 EA cases and 161 EA controls',
    u'71 EA cases and 161 EA controls',
    u'71 EA cases and 161 EA controls',
    u'71 EA cases and 161 EA controls',
    u'71 EA cases and 161 EA controls',
    u'2284 Australian individuals',
    u'NR',
    u'NR',
    u'NR',
    u'NR',
    u'NR',
    u'NR',
    u'NR',
    u'NR',
    u'NR',
    [u'1490 European ancestry blood samples',
     u' 74 Dutch liver samples',
     u' 62 Dutch muscle samples',
     u' 83 Dutch subcutaneous adipose samples',
     u' 77 visceral adipose samples'],
    [u'1490 European ancestry blood samples',
     u' 74 Dutch liver samples',
     u' 62 Dutch muscle samples',
     u' 83 Dutch subcutaneous adipose samples',
     u' 77 visceral adipose samples'],
    [u'1490 European ancestry blood samples',
     u' 74 Dutch liver samples',
     u' 62 Dutch muscle samples',
     u' 83 Dutch subcutaneous adipose samples',
     u' 77 visceral adipose samples'],
    u'133661 EA individuals',
    u'133661 EA individuals',
    u'NR',
    u'NR',
    u'NR',
    u'NR'],
   u'sift': u'C282Y:(C>Y);(1.00>0.00);(TOLERATED>DELETERIOUS)',
   u'srsid': 1800562,
   u'uniprot': u'(HFE;TOPO_DOM;23-306;Extracellular (Potential).);(HFE;DOMAIN;207-298;Ig-like C1-type.);(HFE;REGION;206-297;Alpha-3.);(HFE;DISULFID;225-282;26200948);(HFE;VARIANT;282-282;C -> Y (in HH; the frequency of the Tyr- 282 mutation is higher in patients with type 2 diabetes than it is in the general population of healthy subjects; dbSNP:rs1800562). /FTId=VAR_004398.);(HFE;STRAND;280-285;26201113)'},
  u'gwassnps': {u'genename': u'HFE',
   u'pubmed': 24097068,
   u'pvalue': u'8E-14',
   u'pvalue_desc': u'',
   u'region': u'6p22.2',
   u'risk_allele': u'rs1800562-A',
   u'risk_allele_freq': u'0.07',
   u'rsid': u'rs1800562',
   u'title': u'Discovery and refinement of loci associated with lipid levels.',
   u'trait': u'LDL cholesterol'},
  u'mutdb': {u'alt': u'A',
   u'chrom': u'6',
   u'hg19': {u'end': 26093141, u'start': 26093141},
   u'mutpred_score': 0.773,
   u'ref': u'G',
   u'rsid': u'rs1800562',
   u'strand': u'p',
   u'uniprot_id': u'VAR_004398'},
  u'query': u'RCV000000019',
  u'wellderly': {u'adviser_score': u'6~Haemochromatosis, association with~Common, Known Causative Mutation',
   u'allele_aa': u'Y',
   u'alleles': [{u'allele': u'A', u'freq': 0.04},
    {u'allele': u'G', u'freq': 0.96}],
   u'alt': u'A',
   u'chrom': u'6',
   u'coding_impact': u'Nonsynonymous',
   u'gene': u'HFE',
   u'genotypes': [{u'count': 16, u'freq': 0.08, u'genotype': u'G/A'},
    {u'count': 184, u'freq': 0.92, u'genotype': u'G/G'}],
   u'hg19': {u'end': 26093141, u'start': 26093141},
   u'original_aa': u'C',
   u'pos': 26093141,
   u'protein_pos': [u'259',
    u'279',
    u'194',
    u'282',
    u'180',
    u'268',
    u'176',
    u'190',
    u'102'],
   u'ref': u'G',
   u'sift': u'INTOLERANT',
   u'vartype': u'snp'}},
 {u'_id': u'chr14:g.77902228G>A',
  u'_score': 16.533625,
  u'cadd': {u'_license': u'http://goo.gl/bkpNhq',
   u'alt': u'A',
   u'anc': u'G',
   u'annotype': u'CodingTranscript',
   u'bstatistic': 626,
   u'chmm': {u'bivflnk': 0.0,
    u'enh': 0.008,
    u'enhbiv': 0.0,
    u'het': 0.0,
    u'quies': 0.016,
    u'reprpc': 0.0,
    u'reprpcwk': 0.0,
    u'tssa': 0.0,
    u'tssaflnk': 0.0,
    u'tssbiv': 0.0,
    u'tx': 0.748,
    u'txflnk': 0.0,
    u'txwk': 0.228,
    u'znfrpts': 0.0},
   u'chrom': 14,
   u'consdetail': u'stop_gained',
   u'consequence': u'STOP_GAINED',
   u'consscore': 8,
   u'cpg': 0.04,
   u'dna': {u'helt': -2.68, u'mgw': 0.17, u'prot': 1.79, u'roll': -1.14},
   u'encode': {u'exp': 95.92,
    u'h3k27ac': 10.28,
    u'h3k4me1': 4.32,
    u'h3k4me3': 4.0,
    u'nucleo': 1.2},
   u'exon': u'13/20',
   u'fitcons': 0.701516,
   u'gc': 0.42,
   u'gene': {u'ccds_id': u'CCDS9862.1',
    u'cds': {u'cdna_pos': 1382,
     u'cds_pos': 871,
     u'rel_cdna_pos': 0.47,
     u'rel_cds_pos': 0.59},
    u'feature_id': u'ENST00000553888',
    u'gene_id': u'ENSG00000151445',
    u'genename': u'VIPAS39',
    u'prot': {u'domain': u'ndomain', u'protpos': 291, u'rel_prot_pos': 0.59}},
   u'gerp': {u'n': 5.17, u'rs': 359.5, u'rs_pval': 1.2817e-55, u's': 4.26},
   u'isderived': u'TRUE',
   u'isknownvariant': u'FALSE',
   u'istv': u'FALSE',
   u'length': 0,
   u'mapability': {u'20bp': 1, u'35bp': 1},
   u'min_dist_tse': 714,
   u'min_dist_tss': 7277,
   u'mutindex': 46,
   u'naa': u'*',
   u'oaa': u'Q',
   u'phast_cons': {u'mammalian': 0.966,
    u'primate': 0.986,
    u'vertebrate': 0.999},
   u'phred': 39,
   u'phylop': {u'mammalian': 1.275, u'primate': 0.645, u'vertebrate': 3.95},
   u'pos': 77902228,
   u'rawscore': 12.441084,
   u'ref': u'G',
   u'segway': u'R1',
   u'type': u'SNV'},
  u'clinvar': {u'allele_id': 15153,
   u'alt': u'A',
   u'chrom': u'14',
   u'cytogenic': u'14q24.3',
   u'gene': {u'id': u'63894', u'symbol': u'VIPAS39'},
   u'hg19': {u'end': 77902228, u'start': 77902228},
   u'hg38': {u'end': 77435885, u'start': 77435885},
   u'hgvs': {u'coding': [u'NM_001193315.1:c.871C>T', u'NM_022067.3:c.871C>T'],
    u'genomic': [u'NG_023421.1:g.26756C>T',
     u'NC_000014.9:g.77435885G>A',
     u'NC_000014.8:g.77902228G>A']},
   u'omim': u'613401.0004',
   u'rcv': {u'accession': u'RCV000000134',
    u'clinical_significance': u'Pathogenic',
    u'conditions': {u'age_of_onset': u'Neonatal',
     u'identifiers': {u'medgen': u'C3150672',
      u'omim': u'613404',
      u'orphanet': u'2697'},
     u'name': u'Arthrogryposis, renal dysfunction, and cholestasis 2 (ARCS2)'},
    u'last_evaluated': u'2010-04-01',
    u'number_submitters': 1,
    u'origin': u'germline',
    u'preferred_name': u'NM_022067.3(VIPAS39):c.871C>T (p.Gln291Ter)',
    u'review_status': u'no assertion criteria provided'},
   u'ref': u'G',
   u'rsid': u'rs267607171',
   u'type': u'single nucleotide variant',
   u'variant_id': 114},
  u'dbnsfp': {u'aa': {u'alt': u'X',
    u'codonpos': 1,
    u'pos': [u'291', u'291', u'242', u'291', u'242', u'317'],
    u'ref': u'Q',
    u'refcodon': u'CAG'},
   u'alt': u'A',
   u'ancestral_allele': u'G',
   u'cds_strand': u'-',
   u'chrom': u'14',
   u'clinvar': {u'clinsig': 5,
    u'rs': u'rs267607171',
    u'trait': u'Arthrogryposis\\x2c_renal_dysfunction\\x2c_and_cholestasis_2'},
   u'ensembl': {u'geneid': u'ENSG00000151445',
    u'proteinid': [u'ENSP00000339122',
     u'ENSP00000452181',
     u'ENSP00000313098',
     u'ENSP00000452191',
     u'ENSP00000404815',
     u'ENSP00000451857'],
    u'transcriptid': [u'ENST00000343765',
     u'ENST00000553888',
     u'ENST00000327028',
     u'ENST00000557658',
     u'ENST00000448935',
     u'ENST00000556412']},
   u'fathmm-mkl': {u'coding_group': u'AEFGBI',
    u'coding_pred': u'D',
    u'coding_rankscore': 0.7169,
    u'coding_score': 0.96959},
   u'genename': u'VIPAS39',
   u'gerp++': {u'nr': 5.17, u'rs': 4.26, u'rs_rankscore': 0.49573},
   u'gm12878': {u'confidence_value': 0,
    u'fitcons_rankscore': 0.89268,
    u'fitcons_score': 0.724815},
   u'h1-hesc': {u'confidence_value': 0,
    u'fitcons_rankscore': 0.93697,
    u'fitcons_score': 0.732669},
   u'hg18': {u'end': 76971981, u'start': 76971981},
   u'hg19': {u'end': 77902228, u'start': 77902228},
   u'hg38': {u'end': 77435885, u'start': 77435885},
   u'huvec': {u'confidence_value': 0,
    u'fitcons_rankscore': 0.83205,
    u'fitcons_score': 0.714379},
   u'integrated': {u'confidence_value': 0,
    u'fitcons_rankscore': 0.97429,
    u'fitcons_score': 0.736574},
   u'lrt': {u'converted_rankscore': 0.62918,
    u'omega': 0.150383,
    u'pred': u'D',
    u'score': 9e-06},
   u'mutationtaster': {u'AAE': [u'Q278*',
     u'Q317*',
     u'Q242*',
     u'Q291*',
     u'Q291*',
     u'Q291*'],
    u'converted_rankscore': 0.81033,
    u'model': [u'complex_aae',
     u'complex_aae',
     u'complex_aae',
     u'complex_aae',
     u'complex_aae',
     u'complex_aae'],
    u'pred': [u'A', u'A', u'A', u'A', u'A', u'A'],
    u'score': [1, 1, 1, 1, 1, 1]},
   u'phastcons': {u'20way': {u'mammalian': 0.998,
     u'mammalian_rankscore': 0.69624},
    u'7way': {u'vertebrate': 0.972, u'vertebrate_rankscore': 0.45462}},
   u'phylo': {u'p20way': {u'mammalian': 1.048,
     u'mammalian_rankscore': 0.71188},
    u'p7way': {u'vertebrate': 0.83, u'vertebrate_rankscore': 0.35896}},
   u'ref': u'G',
   u'rsid': u'rs267607171',
   u'siphy_29way': {u'logodds': 14.8639,
    u'logodds_rankscore': 0.69849,
    u'pi': {u'a': 0.0, u'c': 0.0, u'g': 0.855, u't': 0.145}}},
  u'dbsnp': {u'allele_origin': u'unspecified',
   u'alleles': [{u'allele': u'G'}, {u'allele': u'A'}],
   u'alt': u'A',
   u'chrom': u'14',
   u'class': u'SNV',
   u'dbsnp_build': 137,
   u'flags': [u'ASP', u'LSD', u'NSN', u'PM', u'REF', u'RV'],
   u'gene': {u'geneid': u'63894', u'symbol': u'VIPAS39'},
   u'hg19': {u'end': 77902229, u'start': 77902228},
   u'ref': u'G',
   u'rsid': u'rs267607171',
   u'validated': False,
   u'var_subtype': u'ts',
   u'vartype': u'snp'},
  u'query': u'RCV000000134',
  u'snpeff': {u'ann': [{u'cdna': {u'length': u'2969', u'position': u'1417'},
     u'cds': {u'length': u'1482', u'position': u'871'},
     u'effect': u'stop_gained',
     u'feature_id': u'NM_001193314.1',
     u'feature_type': u'transcript',
     u'gene_id': u'VIPAS39',
     u'gene_name': u'VIPAS39',
     u'hgvs_c': u'c.871C>T',
     u'hgvs_p': u'p.Gln291*',
     u'protein': {u'length': u'493', u'position': u'291'},
     u'putative_impact': u'HIGH',
     u'rank': u'13',
     u'total': u'20',
     u'transcript_biotype': u'Coding'},
    {u'cdna': {u'length': u'2569', u'position': u'1017'},
     u'cds': {u'length': u'1482', u'position': u'871'},
     u'effect': u'stop_gained',
     u'feature_id': u'NM_001193315.1',
     u'feature_type': u'transcript',
     u'gene_id': u'VIPAS39',
     u'gene_name': u'VIPAS39',
     u'hgvs_c': u'c.871C>T',
     u'hgvs_p': u'p.Gln291*',
     u'protein': {u'length': u'493', u'position': u'291'},
     u'putative_impact': u'HIGH',
     u'rank': u'13',
     u'total': u'20',
     u'transcript_biotype': u'Coding'},
    {u'cdna': {u'length': u'2422', u'position': u'870'},
     u'cds': {u'length': u'1335', u'position': u'724'},
     u'effect': u'stop_gained',
     u'feature_id': u'NM_001193316.1',
     u'feature_type': u'transcript',
     u'gene_id': u'VIPAS39',
     u'gene_name': u'VIPAS39',
     u'hgvs_c': u'c.724C>T',
     u'hgvs_p': u'p.Gln242*',
     u'protein': {u'length': u'444', u'position': u'242'},
     u'putative_impact': u'HIGH',
     u'rank': u'12',
     u'total': u'19',
     u'transcript_biotype': u'Coding'},
    {u'cdna': {u'length': u'2746', u'position': u'1194'},
     u'cds': {u'length': u'1482', u'position': u'871'},
     u'effect': u'stop_gained',
     u'feature_id': u'NM_001193317.1',
     u'feature_type': u'transcript',
     u'gene_id': u'VIPAS39',
     u'gene_name': u'VIPAS39',
     u'hgvs_c': u'c.871C>T',
     u'hgvs_p': u'p.Gln291*',
     u'protein': {u'length': u'493', u'position': u'291'},
     u'putative_impact': u'HIGH',
     u'rank': u'13',
     u'total': u'20',
     u'transcript_biotype': u'Coding'},
    {u'cdna': {u'length': u'2840', u'position': u'1288'},
     u'cds': {u'length': u'1482', u'position': u'871'},
     u'effect': u'stop_gained',
     u'feature_id': u'NM_022067.3',
     u'feature_type': u'transcript',
     u'gene_id': u'VIPAS39',
     u'gene_name': u'VIPAS39',
     u'hgvs_c': u'c.871C>T',
     u'hgvs_p': u'p.Gln291*',
     u'protein': {u'length': u'493', u'position': u'291'},
     u'putative_impact': u'HIGH',
     u'rank': u'14',
     u'total': u'21',
     u'transcript_biotype': u'Coding'}],
   u'lof': {u'gene_id': u'VIPAS39',
    u'gene_name': u'VIPAS39',
    u'number_of_transcripts_in_gene': u'5',
    u'percent_of_transcripts_affected': u'1.00'},
   u'nmd': {u'gene_id': u'VIPAS39',
    u'gene_name': u'VIPAS39',
    u'number_of_transcripts_in_gene': u'5',
    u'percent_of_transcripts_affected': u'1.00'}},
  u'vcf': {u'alt': u'A', u'position': u'77902228', u'ref': u'G'}}]

Can I convert a very large list of ids?

Yes, you can. If you pass an id list (i.e., xli above) larger than 1000 ids, we will do the id mapping in-batch with 1000 ids at a time, and then concatenate the results all together for you. So, from the user-end, it's exactly the same as passing a shorter list. You don't need to worry about saturating our backend servers.