1-161202589-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202589
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202589
    reference: chr 1
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.321+8A>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.548+8A>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.461+8A>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.*18+8A>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.461+8A>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.461+8A>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.548+8A>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.461+8A>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1325A>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.548+8A>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.548+8A>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.461+8A>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.548+8A>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.461+8A>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.321+8A>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.*18+8A>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.461+8A>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.*18+8A>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.323+8A>C
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.548+8A>C
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/1-161202596-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202596
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202596
    reference: chr 1
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.461+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.548+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.461+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.548+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.461+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.*18+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.323+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426292
  ensembl transcript: ENST00000511944
  gene symbol: NR1I3
  hgvsc: ENST00000511944.1:c.239-1332G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.*18+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.461+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.548+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.548+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.461+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.548+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.*18+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.461+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1332G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.548+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.321+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.548+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.548+1G>T
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.548+1G>T
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ

1-161202597-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202597
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202597
    reference: chr 1
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426292
  ensembl transcript: ENST00000511944
  gene symbol: NR1I3
  hgvsc: ENST00000511944.1:c.239-1333G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.*18G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.*18G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.461G>A
  hgvsp: ENSP00000399361.2:p.Arg154His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.461G>A
  hgvsp: ENSP00000423666.1:p.Arg154His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.321G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.461G>A
  hgvsp: ENSP00000427175.1:p.Arg154His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.548G>A
  hgvsp: ENSP00000356961.4:p.Arg183His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.461G>A
  hgvsp: ENSP00000425417.1:p.Arg154His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.323G>A
  hgvsp: ENSP00000421588.1:p.Arg108His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.548G>A
  hgvsp: ENSP00000427034.1:p.Arg183His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.321G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.548G>A
  hgvsp: ENSP00000356962.4:p.Arg183His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.461G>A
  hgvsp: ENSP00000407446.2:p.Arg154His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.548G>A
  hgvsp: ENSP00000356958.2:p.Arg183His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.548G>A
  hgvsp: ENSP00000356965.3:p.Arg183His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.461G>A
  hgvsp: ENSP00000424345.1:p.Arg154His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000488651
  gene symbol: NR1I3
  hgvsc: ENST00000488651.1:n.56G>A
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg183His
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

1-161202598-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202598
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202598
    reference: chr 1
allele count: 3
allele frequency: 2.472024918011174e-5
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.547C>T
  hgvsp: ENSP00000356965.3:p.Arg183Cys
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.460C>T
  hgvsp: ENSP00000423089.1:p.Arg154Cys
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.320C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427600
  ensembl transcript: ENST00000511748
  gene symbol: NR1I3
  hgvsc: ENST00000511748.1:c.152-1334C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426292
  ensembl transcript: ENST00000511944
  gene symbol: NR1I3
  hgvsc: ENST00000511944.1:c.239-1334C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.460C>T
  hgvsp: ENSP00000407446.2:p.Arg154Cys
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356959
  ensembl transcript: ENST00000367980
  gene symbol: NR1I3
  hgvsc: ENST00000367980.2:c.547C>T
  hgvsp: ENSP00000356959.2:p.Arg183Cys
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.547C>T
  hgvsp: ENSP00000356961.4:p.Arg183Cys
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.547C>T
  hgvsp: ENSP00000356958.2:p.Arg183Cys
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.547C>T
  hgvsp: ENSP00000427034.1:p.Arg183Cys
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.547C>T
  hgvsp: ENSP00000424934.1:p.Arg183Cys
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000488651
  gene symbol: NR1I3
  hgvsc: ENST00000488651.1:n.55C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1334C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.460C>T
  hgvsp: ENSP00000424345.1:p.Arg154Cys
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.460C>T
  hgvsp: ENSP00000427175.1:p.Arg154Cys
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.460C>T
  hgvsp: ENSP00000356960.3:p.Arg154Cys
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.*17C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.*17C>T
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg183Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum

1-161202604-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202604
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202604
    reference: chr 1
allele count: 8
allele frequency: 6.59152330103487e-5
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427600
  ensembl transcript: ENST00000511748
  gene symbol: NR1I3
  hgvsc: ENST00000511748.1:c.152-1340G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.541G>A
  hgvsp: ENSP00000427034.1:p.Val181Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.454G>A
  hgvsp: ENSP00000356960.3:p.Val152Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426016
  ensembl transcript: ENST00000502848
  gene symbol: NR1I3
  hgvsc: ENST00000502848.1:c.*11G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1340G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.454G>A
  hgvsp: ENSP00000407446.2:p.Val152Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.316G>A
  hgvsp: ENSP00000421588.1:p.Val106Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.454G>A
  hgvsp: ENSP00000399361.2:p.Val152Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.541G>A
  hgvsp: ENSP00000356963.4:p.Val181Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.454G>A
  hgvsp: ENSP00000427175.1:p.Val152Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.*11G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.*11G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.541G>A
  hgvsp: ENSP00000356961.4:p.Val181Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.454G>A
  hgvsp: ENSP00000423666.1:p.Val152Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.541G>A
  hgvsp: ENSP00000356958.2:p.Val181Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000488651
  gene symbol: NR1I3
  hgvsc: ENST00000488651.1:n.49G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1340G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.541G>A
  hgvsp: ENSP00000356962.4:p.Val181Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.541G>A
  hgvsp: ENSP00000412672.2:p.Val181Ile
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val181Ile
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

1-161202605-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202605
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202605
    reference: chr 1
allele count: 42888
allele frequency: 3.534298051883838e-1
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.453C>T
  hgvsp: ENST00000508740.1:c.453C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426292
  ensembl transcript: ENST00000511944
  gene symbol: NR1I3
  hgvsc: ENST00000511944.1:c.239-1341C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.315C>T
  hgvsp: ENST00000515621.1:c.315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1341C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.540C>T
  hgvsp: ENST00000442691.2:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.453C>T
  hgvsp: ENST00000367981.3:c.453C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.453C>T
  hgvsp: ENST00000506209.1:c.453C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.453C>T
  hgvsp: ENST00000511676.1:c.453C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.540C>T
  hgvsp: ENST00000367983.4:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.453C>T
  hgvsp: ENST00000412844.2:c.453C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.540C>T
  hgvsp: ENST00000367984.4:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.453C>T
  hgvsp: ENST00000512372.1:c.453C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.540C>T
  hgvsp: ENST00000367982.4:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.540C>T
  hgvsp: ENST00000515452.1:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.313C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.453C>T
  hgvsp: ENST00000437437.2:c.453C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.453C>T
  hgvsp: ENST00000506018.1:c.453C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.540C>T
  hgvsp: ENST00000367979.2:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1341C>T
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro180Pro
num of homozygotes: 8172
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

1-161202608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202608
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202608
    reference: chr 1
allele count: 3
allele frequency: 2.471291826614165e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.537G>A
  hgvsp: ENST00000367983.4:c.537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.537G>A
  hgvsp: ENST00000367982.4:c.537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.537G>A
  hgvsp: ENST00000442691.2:c.537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.450G>A
  hgvsp: ENST00000512372.1:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.*7G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.537G>A
  hgvsp: ENST00000428574.2:c.537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.450G>A
  hgvsp: ENST00000367981.3:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.537G>A
  hgvsp: ENST00000367979.2:c.537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1344G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.450G>A
  hgvsp: ENST00000437437.2:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.537G>A
  hgvsp: ENST00000367984.4:c.537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.450G>A
  hgvsp: ENST00000511676.1:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.537G>A
  hgvsp: ENST00000515452.1:c.537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.450G>A
  hgvsp: ENST00000412844.2:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.310G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.450G>A
  hgvsp: ENST00000508740.1:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356959
  ensembl transcript: ENST00000367980
  gene symbol: NR1I3
  hgvsc: ENST00000367980.2:c.537G>A
  hgvsp: ENST00000367980.2:c.537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.*7G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.450G>A
  hgvsp: ENST00000504010.1:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu179Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

1-161202612-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202612
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202612
    reference: chr 1
allele count: 19
allele frequency: 1.565667386324307e-4
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000488651
  gene symbol: NR1I3
  hgvsc: ENST00000488651.1:n.41A>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.533A>C
  hgvsp: ENSP00000356963.4:p.Asp178Ala
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.533A>C
  hgvsp: ENSP00000356958.2:p.Asp178Ala
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.533A>C
  hgvsp: ENSP00000356965.3:p.Asp178Ala
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.446A>C
  hgvsp: ENSP00000407446.2:p.Asp149Ala
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.446A>C
  hgvsp: ENSP00000399361.2:p.Asp149Ala
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.533A>C
  hgvsp: ENSP00000356961.4:p.Asp178Ala
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.446A>C
  hgvsp: ENSP00000356960.3:p.Asp149Ala
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.446A>C
  hgvsp: ENSP00000424345.1:p.Asp149Ala
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.533A>C
  hgvsp: ENSP00000427034.1:p.Asp178Ala
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426016
  ensembl transcript: ENST00000502848
  gene symbol: NR1I3
  hgvsc: ENST00000502848.1:c.*3A>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.*3A>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.533A>C
  hgvsp: ENSP00000412672.2:p.Asp178Ala
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.533A>C
  hgvsp: ENSP00000424934.1:p.Asp178Ala
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.308A>C
  hgvsp: ENSP00000421588.1:p.Asp103Ala
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356959
  ensembl transcript: ENST00000367980
  gene symbol: NR1I3
  hgvsc: ENST00000367980.2:c.533A>C
  hgvsp: ENSP00000356959.2:p.Asp178Ala
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.306A>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.446A>C
  hgvsp: ENSP00000427175.1:p.Asp149Ala
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.446A>C
  hgvsp: ENSP00000423089.1:p.Asp149Ala
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp178Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

1-161202613-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202613
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202613
    reference: chr 1
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.532G>A
  hgvsp: ENSP00000356961.4:p.Asp178Asn
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.445G>A
  hgvsp: ENSP00000356960.3:p.Asp149Asn
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.532G>A
  hgvsp: ENSP00000406493.2:p.Asp178Asn
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.445G>A
  hgvsp: ENSP00000423089.1:p.Asp149Asn
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.532G>A
  hgvsp: ENSP00000356965.3:p.Asp178Asn
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.532G>A
  hgvsp: ENSP00000356963.4:p.Asp178Asn
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.445G>A
  hgvsp: ENSP00000425417.1:p.Asp149Asn
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.532G>A
  hgvsp: ENSP00000412672.2:p.Asp178Asn
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.445G>A
  hgvsp: ENSP00000427175.1:p.Asp149Asn
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.532G>A
  hgvsp: ENSP00000424934.1:p.Asp178Asn
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.532G>A
  hgvsp: ENSP00000356958.2:p.Asp178Asn
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1349G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.445G>A
  hgvsp: ENSP00000424834.1:p.Asp149Asn
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.532G>A
  hgvsp: ENSP00000427034.1:p.Asp178Asn
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.445G>A
  hgvsp: ENSP00000424345.1:p.Asp149Asn
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.445G>A
  hgvsp: ENSP00000399361.2:p.Asp149Asn
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1349G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.*2G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.445G>A
  hgvsp: ENSP00000407446.2:p.Asp149Asn
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp178Asn
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

1-161202631-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202631
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202631
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426016
  ensembl transcript: ENST00000502848
  gene symbol: NR1I3
  hgvsc: ENST00000502848.1:c.344G>A
  hgvsp: ENSP00000426016.1:p.Ser115Asn
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.427G>A
  hgvsp: ENSP00000399361.2:p.Val143Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356959
  ensembl transcript: ENST00000367980
  gene symbol: NR1I3
  hgvsc: ENST00000367980.2:c.514G>A
  hgvsp: ENSP00000356959.2:p.Val172Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.514G>A
  hgvsp: ENSP00000356965.3:p.Val172Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.427G>A
  hgvsp: ENSP00000356960.3:p.Val143Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.257G>A
  hgvsp: ENSP00000423007.1:p.Ser86Asn
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427600
  ensembl transcript: ENST00000511748
  gene symbol: NR1I3
  hgvsc: ENST00000511748.1:c.152-1367G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.514G>A
  hgvsp: ENSP00000406493.2:p.Val172Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.514G>A
  hgvsp: ENSP00000424934.1:p.Val172Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.427G>A
  hgvsp: ENSP00000423666.1:p.Val143Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.514G>A
  hgvsp: ENSP00000356962.4:p.Val172Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.427G>A
  hgvsp: ENSP00000407446.2:p.Val143Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.514G>A
  hgvsp: ENSP00000427034.1:p.Val172Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.257G>A
  hgvsp: ENSP00000425607.1:p.Ser86Asn
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.427G>A
  hgvsp: ENSP00000423089.1:p.Val143Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.427G>A
  hgvsp: ENSP00000427175.1:p.Val143Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.514G>A
  hgvsp: ENSP00000356963.4:p.Val172Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.514G>A
  hgvsp: ENSP00000412672.2:p.Val172Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.427G>A
  hgvsp: ENSP00000425417.1:p.Val143Ile
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val172Ile
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

1-161202642-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202642
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202642
    reference: chr 1
allele count: 5
allele frequency: 4.118276912939626e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426016
  ensembl transcript: ENST00000502848
  gene symbol: NR1I3
  hgvsc: ENST00000502848.1:c.333T>C
  hgvsp: ENST00000502848.1:c.333T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.416T>C
  hgvsp: ENSP00000399361.2:p.Met139Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.416T>C
  hgvsp: ENSP00000424834.1:p.Met139Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.503T>C
  hgvsp: ENSP00000412672.2:p.Met168Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.416T>C
  hgvsp: ENSP00000424345.1:p.Met139Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.503T>C
  hgvsp: ENSP00000427034.1:p.Met168Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.416T>C
  hgvsp: ENSP00000427175.1:p.Met139Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.503T>C
  hgvsp: ENSP00000406493.2:p.Met168Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000488651
  gene symbol: NR1I3
  hgvsc: ENST00000488651.1:n.11T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.503T>C
  hgvsp: ENSP00000356961.4:p.Met168Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.503T>C
  hgvsp: ENSP00000356958.2:p.Met168Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.416T>C
  hgvsp: ENSP00000425417.1:p.Met139Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426292
  ensembl transcript: ENST00000511944
  gene symbol: NR1I3
  hgvsc: ENST00000511944.1:c.239-1378T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1378T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.503T>C
  hgvsp: ENSP00000424934.1:p.Met168Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.416T>C
  hgvsp: ENSP00000423089.1:p.Met139Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.278T>C
  hgvsp: ENSP00000421588.1:p.Met93Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.416T>C
  hgvsp: ENSP00000356960.3:p.Met139Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.246T>C
  hgvsp: ENST00000507215.1:c.246T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met168Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-161202646-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202646
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202646
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.499T>G
  hgvsp: ENSP00000356965.3:p.Phe167Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.412T>G
  hgvsp: ENSP00000407446.2:p.Phe138Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.412T>G
  hgvsp: ENSP00000424834.1:p.Phe138Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.499T>G
  hgvsp: ENSP00000424934.1:p.Phe167Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.499T>G
  hgvsp: ENSP00000427034.1:p.Phe167Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.412T>G
  hgvsp: ENSP00000425417.1:p.Phe138Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.272T>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.412T>G
  hgvsp: ENSP00000356960.3:p.Phe138Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.499T>G
  hgvsp: ENSP00000356961.4:p.Phe167Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1382T>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427600
  ensembl transcript: ENST00000511748
  gene symbol: NR1I3
  hgvsc: ENST00000511748.1:c.152-1382T>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.274T>G
  hgvsp: ENSP00000421588.1:p.Phe92Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.242T>G
  hgvsp: ENSP00000425900.1:p.Phe81Cys
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.499T>G
  hgvsp: ENSP00000356958.2:p.Phe167Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.412T>G
  hgvsp: ENSP00000423089.1:p.Phe138Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1382T>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.412T>G
  hgvsp: ENSP00000427175.1:p.Phe138Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000488651
  gene symbol: NR1I3
  hgvsc: ENST00000488651.1:n.7T>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.499T>G
  hgvsp: ENSP00000356963.4:p.Phe167Val
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe167Val
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

1-161202648-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202648
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202648
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.497C>T
  hgvsp: ENSP00000356958.2:p.Thr166Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.497C>T
  hgvsp: ENSP00000356962.4:p.Thr166Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.497C>T
  hgvsp: ENSP00000406493.2:p.Thr166Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.410C>T
  hgvsp: ENSP00000427175.1:p.Thr137Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.410C>T
  hgvsp: ENSP00000424834.1:p.Thr137Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427600
  ensembl transcript: ENST00000511748
  gene symbol: NR1I3
  hgvsc: ENST00000511748.1:c.152-1384C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.497C>T
  hgvsp: ENSP00000356963.4:p.Thr166Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.410C>T
  hgvsp: ENSP00000356960.3:p.Thr137Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.497C>T
  hgvsp: ENSP00000356961.4:p.Thr166Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356959
  ensembl transcript: ENST00000367980
  gene symbol: NR1I3
  hgvsc: ENST00000367980.2:c.497C>T
  hgvsp: ENSP00000356959.2:p.Thr166Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.240C>T
  hgvsp: ENST00000512340.1:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.497C>T
  hgvsp: ENSP00000424934.1:p.Thr166Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.410C>T
  hgvsp: ENSP00000407446.2:p.Thr137Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.272C>T
  hgvsp: ENSP00000421588.1:p.Thr91Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.497C>T
  hgvsp: ENSP00000356965.3:p.Thr166Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.270C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.497C>T
  hgvsp: ENSP00000412672.2:p.Thr166Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.410C>T
  hgvsp: ENSP00000399361.2:p.Thr137Ile
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.497C>T
  hgvsp: ENSP00000427034.1:p.Thr166Ile
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr166Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

1-161202656-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202656
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202656
    reference: chr 1
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.402C>T
  hgvsp: ENST00000506209.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.402C>T
  hgvsp: ENST00000504010.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.262C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.489C>T
  hgvsp: ENST00000367984.4:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.232C>T
  hgvsp: ENSP00000423007.1:p.His78Tyr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.489C>T
  hgvsp: ENST00000442691.2:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.232C>T
  hgvsp: ENSP00000425607.1:p.His78Tyr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.402C>T
  hgvsp: ENST00000508740.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1392C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.489C>T
  hgvsp: ENST00000505005.1:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426016
  ensembl transcript: ENST00000502848
  gene symbol: NR1I3
  hgvsc: ENST00000502848.1:c.319C>T
  hgvsp: ENSP00000426016.1:p.His107Tyr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.402C>T
  hgvsp: ENST00000367981.3:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.232C>T
  hgvsp: ENSP00000425900.1:p.His78Tyr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.489C>T
  hgvsp: ENST00000367983.4:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.402C>T
  hgvsp: ENST00000512372.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.489C>T
  hgvsp: ENST00000515452.1:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.264C>T
  hgvsp: ENST00000515621.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.489C>T
  hgvsp: ENST00000367982.4:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.402C>T
  hgvsp: ENST00000506018.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His78Tyr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

1-161202659-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202659
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202659
    reference: chr 1
allele count: 14
allele frequency: 1.153117535623095e-4
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427600
  ensembl transcript: ENST00000511748
  gene symbol: NR1I3
  hgvsc: ENST00000511748.1:c.152-1395A>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.486A>T
  hgvsp: ENST00000367983.4:c.486A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.486A>T
  hgvsp: ENST00000367985.3:c.486A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.229A>T
  hgvsp: ENSP00000425607.1:p.Arg77Ter
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426016
  ensembl transcript: ENST00000502848
  gene symbol: NR1I3
  hgvsc: ENST00000502848.1:c.316A>T
  hgvsp: ENSP00000426016.1:p.Arg106Ter
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1395A>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.399A>T
  hgvsp: ENST00000512372.1:c.399A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.229A>T
  hgvsp: ENSP00000423007.1:p.Arg77Ter
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.399A>T
  hgvsp: ENST00000367981.3:c.399A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.486A>T
  hgvsp: ENST00000442691.2:c.486A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.399A>T
  hgvsp: ENST00000506209.1:c.399A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.399A>T
  hgvsp: ENST00000504010.1:c.399A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.399A>T
  hgvsp: ENST00000508740.1:c.399A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.399A>T
  hgvsp: ENST00000506018.1:c.399A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.399A>T
  hgvsp: ENST00000437437.2:c.399A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.261A>T
  hgvsp: ENST00000515621.1:c.261A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.229A>T
  hgvsp: ENSP00000425900.1:p.Arg77Ter
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.486A>T
  hgvsp: ENST00000367979.2:c.486A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.399A>T
  hgvsp: ENST00000412844.2:c.399A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg77Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

1-161202659-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202659
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202659
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.399A>C
  hgvsp: ENST00000506209.1:c.399A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.259A>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.486A>C
  hgvsp: ENST00000505005.1:c.486A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.486A>C
  hgvsp: ENST00000442691.2:c.486A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1395A>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.229A>C
  hgvsp: ENST00000512340.1:c.229A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.486A>C
  hgvsp: ENST00000367984.4:c.486A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.399A>C
  hgvsp: ENST00000504010.1:c.399A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.399A>C
  hgvsp: ENST00000508740.1:c.399A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1395A>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426016
  ensembl transcript: ENST00000502848
  gene symbol: NR1I3
  hgvsc: ENST00000502848.1:c.316A>C
  hgvsp: ENST00000502848.1:c.316A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.399A>C
  hgvsp: ENST00000511676.1:c.399A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.486A>C
  hgvsp: ENST00000515452.1:c.486A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.486A>C
  hgvsp: ENST00000367983.4:c.486A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.486A>C
  hgvsp: ENST00000367985.3:c.486A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.399A>C
  hgvsp: ENST00000367981.3:c.399A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.229A>C
  hgvsp: ENST00000510951.1:c.229A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.229A>C
  hgvsp: ENST00000507215.1:c.229A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.399A>C
  hgvsp: ENST00000437437.2:c.399A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala162Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

1-161202661-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202661
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202661
    reference: chr 1
allele count: 12
allele frequency: 9.883864591055103e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426016
  ensembl transcript: ENST00000502848
  gene symbol: NR1I3
  hgvsc: ENST00000502848.1:c.314G>A
  hgvsp: ENSP00000426016.1:p.Arg105His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.227G>A
  hgvsp: ENSP00000423007.1:p.Arg76His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.227G>A
  hgvsp: ENSP00000425607.1:p.Arg76His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.397G>A
  hgvsp: ENSP00000423089.1:p.Ala133Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.397G>A
  hgvsp: ENSP00000423666.1:p.Ala133Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.484G>A
  hgvsp: ENSP00000356963.4:p.Ala162Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.397G>A
  hgvsp: ENSP00000427175.1:p.Ala133Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.257G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.397G>A
  hgvsp: ENSP00000356960.3:p.Ala133Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.484G>A
  hgvsp: ENSP00000406493.2:p.Ala162Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.397G>A
  hgvsp: ENSP00000424345.1:p.Ala133Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.227G>A
  hgvsp: ENSP00000425900.1:p.Arg76His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.397G>A
  hgvsp: ENSP00000407446.2:p.Ala133Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356959
  ensembl transcript: ENST00000367980
  gene symbol: NR1I3
  hgvsc: ENST00000367980.2:c.484G>A
  hgvsp: ENSP00000356959.2:p.Ala162Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.259G>A
  hgvsp: ENSP00000421588.1:p.Ala87Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.484G>A
  hgvsp: ENSP00000412672.2:p.Ala162Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.484G>A
  hgvsp: ENSP00000424934.1:p.Ala162Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.484G>A
  hgvsp: ENSP00000356965.3:p.Ala162Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.484G>A
  hgvsp: ENSP00000427034.1:p.Ala162Thr
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala162Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

1-161202662-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202662
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202662
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.396C>T
  hgvsp: ENST00000506018.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426016
  ensembl transcript: ENST00000502848
  gene symbol: NR1I3
  hgvsc: ENST00000502848.1:c.313C>T
  hgvsp: ENSP00000426016.1:p.Arg105Cys
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.256C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.483C>T
  hgvsp: ENST00000367983.4:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.483C>T
  hgvsp: ENST00000367979.2:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.483C>T
  hgvsp: ENST00000367985.3:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.483C>T
  hgvsp: ENST00000505005.1:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.396C>T
  hgvsp: ENST00000412844.2:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.396C>T
  hgvsp: ENST00000367981.3:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.396C>T
  hgvsp: ENST00000508740.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.226C>T
  hgvsp: ENSP00000425900.1:p.Arg76Cys
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.396C>T
  hgvsp: ENST00000512372.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.396C>T
  hgvsp: ENST00000506209.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.396C>T
  hgvsp: ENST00000511676.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.258C>T
  hgvsp: ENST00000515621.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.483C>T
  hgvsp: ENST00000367984.4:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.396C>T
  hgvsp: ENST00000504010.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.483C>T
  hgvsp: ENST00000442691.2:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.226C>T
  hgvsp: ENSP00000425607.1:p.Arg76Cys
  variant of: http://identifiers.org/hgnc/7969
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg76Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-161202668-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202668
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202668
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.390A>T
  hgvsp: ENST00000506018.1:c.390A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.477A>T
  hgvsp: ENST00000442691.2:c.477A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.390A>T
  hgvsp: ENST00000367981.3:c.390A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.390A>T
  hgvsp: ENST00000412844.2:c.390A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.477A>T
  hgvsp: ENST00000367979.2:c.477A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.220A>T
  hgvsp: ENSP00000425607.1:p.Thr74Ser
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.390A>T
  hgvsp: ENST00000512372.1:c.390A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.252A>T
  hgvsp: ENST00000515621.1:c.252A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.477A>T
  hgvsp: ENST00000515452.1:c.477A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427600
  ensembl transcript: ENST00000511748
  gene symbol: NR1I3
  hgvsc: ENST00000511748.1:c.152-1404A>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.390A>T
  hgvsp: ENST00000506209.1:c.390A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426016
  ensembl transcript: ENST00000502848
  gene symbol: NR1I3
  hgvsc: ENST00000502848.1:c.307A>T
  hgvsp: ENSP00000426016.1:p.Thr103Ser
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1404A>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1404A>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.220A>T
  hgvsp: ENSP00000423007.1:p.Thr74Ser
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.477A>T
  hgvsp: ENST00000505005.1:c.477A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.390A>T
  hgvsp: ENST00000504010.1:c.390A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.477A>T
  hgvsp: ENST00000367984.4:c.477A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356959
  ensembl transcript: ENST00000367980
  gene symbol: NR1I3
  hgvsc: ENST00000367980.2:c.477A>T
  hgvsp: ENST00000367980.2:c.477A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr74Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

1-161202668-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202668
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202668
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426016
  ensembl transcript: ENST00000502848
  gene symbol: NR1I3
  hgvsc: ENST00000502848.1:c.307A>G
  hgvsp: ENSP00000426016.1:p.Thr103Ala
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.390A>G
  hgvsp: ENST00000367981.3:c.390A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.252A>G
  hgvsp: ENST00000515621.1:c.252A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.220A>G
  hgvsp: ENSP00000425900.1:p.Thr74Ala
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.390A>G
  hgvsp: ENST00000506018.1:c.390A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.390A>G
  hgvsp: ENST00000511676.1:c.390A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.390A>G
  hgvsp: ENST00000506209.1:c.390A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1404A>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.477A>G
  hgvsp: ENST00000367984.4:c.477A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.477A>G
  hgvsp: ENST00000367982.4:c.477A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.220A>G
  hgvsp: ENSP00000423007.1:p.Thr74Ala
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.220A>G
  hgvsp: ENSP00000425607.1:p.Thr74Ala
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.477A>G
  hgvsp: ENST00000442691.2:c.477A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.477A>G
  hgvsp: ENST00000428574.2:c.477A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.477A>G
  hgvsp: ENST00000515452.1:c.477A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.390A>G
  hgvsp: ENST00000508740.1:c.390A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.477A>G
  hgvsp: ENST00000367983.4:c.477A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.390A>G
  hgvsp: ENST00000512372.1:c.390A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.250A>G
  variant of: http://identifiers.org/hgnc/7969
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr74Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-161202677-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202677
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202677
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.468T>C
  hgvsp: ENST00000367984.4:c.468T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.468T>C
  hgvsp: ENST00000367983.4:c.468T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.211T>C
  hgvsp: ENSP00000425607.1:p.Ser71Pro
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.381T>C
  hgvsp: ENST00000512372.1:c.381T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426016
  ensembl transcript: ENST00000502848
  gene symbol: NR1I3
  hgvsc: ENST00000502848.1:c.298T>C
  hgvsp: ENSP00000426016.1:p.Ser100Pro
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.381T>C
  hgvsp: ENST00000508740.1:c.381T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.381T>C
  hgvsp: ENST00000506018.1:c.381T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1413T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.468T>C
  hgvsp: ENST00000367985.3:c.468T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.241T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356959
  ensembl transcript: ENST00000367980
  gene symbol: NR1I3
  hgvsc: ENST00000367980.2:c.468T>C
  hgvsp: ENST00000367980.2:c.468T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.211T>C
  hgvsp: ENSP00000425900.1:p.Ser71Pro
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.468T>C
  hgvsp: ENST00000428574.2:c.468T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.381T>C
  hgvsp: ENST00000504010.1:c.381T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.243T>C
  hgvsp: ENST00000515621.1:c.243T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.211T>C
  hgvsp: ENSP00000423007.1:p.Ser71Pro
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.241T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.468T>C
  hgvsp: ENST00000505005.1:c.468T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.468T>C
  hgvsp: ENST00000367979.2:c.468T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser71Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

1-161202686-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202686
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202686
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.372T>A
  hgvsp: ENST00000504010.1:c.372T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.234T>A
  hgvsp: ENST00000515621.1:c.234T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.459T>A
  hgvsp: ENST00000367979.2:c.459T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1422T>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.459T>A
  hgvsp: ENST00000442691.2:c.459T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.372T>A
  hgvsp: ENST00000512372.1:c.372T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.459T>A
  hgvsp: ENST00000367983.4:c.459T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.202T>A
  hgvsp: ENSP00000423007.1:p.Cys68Ser
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1422T>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.372T>A
  hgvsp: ENST00000511676.1:c.372T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.202T>A
  hgvsp: ENSP00000425900.1:p.Cys68Ser
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.459T>A
  hgvsp: ENST00000515452.1:c.459T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.459T>A
  hgvsp: ENST00000505005.1:c.459T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426016
  ensembl transcript: ENST00000502848
  gene symbol: NR1I3
  hgvsc: ENST00000502848.1:c.289T>A
  hgvsp: ENSP00000426016.1:p.Cys97Ser
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.372T>A
  hgvsp: ENST00000508740.1:c.372T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.459T>A
  hgvsp: ENST00000367984.4:c.459T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.202T>A
  hgvsp: ENSP00000425607.1:p.Cys68Ser
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.372T>A
  hgvsp: ENST00000506209.1:c.372T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.459T>A
  hgvsp: ENST00000428574.2:c.459T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys68Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-161202690-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202690
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202690
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.198C>T
  hgvsp: ENST00000507215.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.198C>T
  hgvsp: ENST00000512340.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.455C>T
  hgvsp: ENSP00000412672.2:p.Ala152Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.368C>T
  hgvsp: ENSP00000425417.1:p.Ala123Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.368C>T
  hgvsp: ENSP00000424345.1:p.Ala123Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.228C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.455C>T
  hgvsp: ENSP00000356961.4:p.Ala152Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.455C>T
  hgvsp: ENSP00000427034.1:p.Ala152Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.368C>T
  hgvsp: ENSP00000423666.1:p.Ala123Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.455C>T
  hgvsp: ENSP00000356958.2:p.Ala152Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.368C>T
  hgvsp: ENSP00000356960.3:p.Ala123Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.455C>T
  hgvsp: ENSP00000424934.1:p.Ala152Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.368C>T
  hgvsp: ENSP00000424834.1:p.Ala123Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427600
  ensembl transcript: ENST00000511748
  gene symbol: NR1I3
  hgvsc: ENST00000511748.1:c.152-1426C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.228C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426292
  ensembl transcript: ENST00000511944
  gene symbol: NR1I3
  hgvsc: ENST00000511944.1:c.239-1426C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1426C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.455C>T
  hgvsp: ENSP00000356963.4:p.Ala152Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.368C>T
  hgvsp: ENSP00000423089.1:p.Ala123Val
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala152Val
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

1-161202693-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202693
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202693
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.365T>C
  hgvsp: ENSP00000423666.1:p.Leu122Pro
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.365T>C
  hgvsp: ENSP00000356960.3:p.Leu122Pro
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.365T>C
  hgvsp: ENSP00000399361.2:p.Leu122Pro
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.452T>C
  hgvsp: ENSP00000356965.3:p.Leu151Pro
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.452T>C
  hgvsp: ENSP00000356963.4:p.Leu151Pro
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.365T>C
  hgvsp: ENSP00000424345.1:p.Leu122Pro
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.452T>C
  hgvsp: ENSP00000356961.4:p.Leu151Pro
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.225T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.225T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.227T>C
  hgvsp: ENSP00000421588.1:p.Leu76Pro
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.365T>C
  hgvsp: ENSP00000424834.1:p.Leu122Pro
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.365T>C
  hgvsp: ENSP00000423089.1:p.Leu122Pro
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1429T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427600
  ensembl transcript: ENST00000511748
  gene symbol: NR1I3
  hgvsc: ENST00000511748.1:c.152-1429T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.365T>C
  hgvsp: ENSP00000425417.1:p.Leu122Pro
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.195T>C
  hgvsp: ENST00000512340.1:c.195T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.452T>C
  hgvsp: ENSP00000427034.1:p.Leu151Pro
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1429T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.365T>C
  hgvsp: ENSP00000427175.1:p.Leu122Pro
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu151Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

1-161202701-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202701
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202701
    reference: chr 1
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.444G>A
  hgvsp: ENST00000515452.1:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.357G>A
  hgvsp: ENST00000367981.3:c.357G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426016
  ensembl transcript: ENST00000502848
  gene symbol: NR1I3
  hgvsc: ENST00000502848.1:c.274G>A
  hgvsp: ENSP00000426016.1:p.Ala92Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.187G>A
  hgvsp: ENSP00000423007.1:p.Ala63Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.357G>A
  hgvsp: ENST00000437437.2:c.357G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.357G>A
  hgvsp: ENST00000504010.1:c.357G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.357G>A
  hgvsp: ENST00000511676.1:c.357G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.444G>A
  hgvsp: ENST00000428574.2:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356959
  ensembl transcript: ENST00000367980
  gene symbol: NR1I3
  hgvsc: ENST00000367980.2:c.444G>A
  hgvsp: ENST00000367980.2:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.357G>A
  hgvsp: ENST00000412844.2:c.357G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.357G>A
  hgvsp: ENST00000506018.1:c.357G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.444G>A
  hgvsp: ENST00000367984.4:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.444G>A
  hgvsp: ENST00000367982.4:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.357G>A
  hgvsp: ENST00000512372.1:c.357G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.357G>A
  hgvsp: ENST00000508740.1:c.357G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.187G>A
  hgvsp: ENSP00000425607.1:p.Ala63Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.219G>A
  hgvsp: ENST00000515621.1:c.219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.187G>A
  hgvsp: ENSP00000425900.1:p.Ala63Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.217G>A
  variant of: http://identifiers.org/hgnc/7969
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala63Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-161202705-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202705
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202705
    reference: chr 1
allele count: 3
allele frequency: 2.471169686985173e-5
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.213C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.353C>G
  hgvsp: ENSP00000399361.2:p.Pro118Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.440C>G
  hgvsp: ENSP00000356958.2:p.Pro147Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.353C>G
  hgvsp: ENSP00000424834.1:p.Pro118Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.183C>G
  hgvsp: ENST00000507215.1:c.183C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.440C>G
  hgvsp: ENSP00000356963.4:p.Pro147Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.440C>G
  hgvsp: ENSP00000356962.4:p.Pro147Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.440C>G
  hgvsp: ENSP00000424934.1:p.Pro147Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.213C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.440C>G
  hgvsp: ENSP00000356961.4:p.Pro147Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.353C>G
  hgvsp: ENSP00000425417.1:p.Pro118Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426292
  ensembl transcript: ENST00000511944
  gene symbol: NR1I3
  hgvsc: ENST00000511944.1:c.239-1441C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.353C>G
  hgvsp: ENSP00000423089.1:p.Pro118Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.353C>G
  hgvsp: ENSP00000407446.2:p.Pro118Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356959
  ensembl transcript: ENST00000367980
  gene symbol: NR1I3
  hgvsc: ENST00000367980.2:c.440C>G
  hgvsp: ENSP00000356959.2:p.Pro147Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.215C>G
  hgvsp: ENSP00000421588.1:p.Pro72Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.440C>G
  hgvsp: ENSP00000412672.2:p.Pro147Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1441C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.440C>G
  hgvsp: ENSP00000356965.3:p.Pro147Arg
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro147Arg
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ

1-161202714-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202714
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202714
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.431A>G
  hgvsp: ENSP00000356961.4:p.His144Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.206A>G
  hgvsp: ENSP00000421588.1:p.His69Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.344A>G
  hgvsp: ENSP00000356960.3:p.His115Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.344A>G
  hgvsp: ENSP00000425417.1:p.His115Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.431A>G
  hgvsp: ENSP00000424934.1:p.His144Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.174A>G
  hgvsp: ENST00000512340.1:c.174A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426292
  ensembl transcript: ENST00000511944
  gene symbol: NR1I3
  hgvsc: ENST00000511944.1:c.239-1450A>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.431A>G
  hgvsp: ENSP00000412672.2:p.His144Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.431A>G
  hgvsp: ENSP00000356963.4:p.His144Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.431A>G
  hgvsp: ENSP00000356958.2:p.His144Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.431A>G
  hgvsp: ENSP00000356962.4:p.His144Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.344A>G
  hgvsp: ENSP00000423089.1:p.His115Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427600
  ensembl transcript: ENST00000511748
  gene symbol: NR1I3
  hgvsc: ENST00000511748.1:c.152-1450A>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.344A>G
  hgvsp: ENSP00000424345.1:p.His115Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.344A>G
  hgvsp: ENSP00000407446.2:p.His115Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.431A>G
  hgvsp: ENSP00000406493.2:p.His144Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356959
  ensembl transcript: ENST00000367980
  gene symbol: NR1I3
  hgvsc: ENST00000367980.2:c.431A>G
  hgvsp: ENSP00000356959.2:p.His144Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.344A>G
  hgvsp: ENSP00000424834.1:p.His115Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.174A>G
  hgvsp: ENST00000510951.1:c.174A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His144Arg
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-161202716-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202716
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202716
    reference: chr 1
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.429C>G
  hgvsp: ENSP00000427034.1:p.Ile143Met
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.202C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.429C>G
  hgvsp: ENSP00000356961.4:p.Ile143Met
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.342C>G
  hgvsp: ENSP00000425417.1:p.Ile114Met
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.342C>G
  hgvsp: ENSP00000423666.1:p.Ile114Met
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.204C>G
  hgvsp: ENSP00000421588.1:p.Ile68Met
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426292
  ensembl transcript: ENST00000511944
  gene symbol: NR1I3
  hgvsc: ENST00000511944.1:c.239-1452C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.429C>G
  hgvsp: ENSP00000406493.2:p.Ile143Met
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.429C>G
  hgvsp: ENSP00000356962.4:p.Ile143Met
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.429C>G
  hgvsp: ENSP00000424934.1:p.Ile143Met
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.342C>G
  hgvsp: ENSP00000356960.3:p.Ile114Met
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1452C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.172C>G
  hgvsp: ENSP00000423007.1:p.Pro58Ala
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.429C>G
  hgvsp: ENSP00000412672.2:p.Ile143Met
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.342C>G
  hgvsp: ENSP00000427175.1:p.Ile114Met
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.429C>G
  hgvsp: ENSP00000356958.2:p.Ile143Met
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426016
  ensembl transcript: ENST00000502848
  gene symbol: NR1I3
  hgvsc: ENST00000502848.1:c.259C>G
  hgvsp: ENSP00000426016.1:p.Pro87Ala
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.342C>G
  hgvsp: ENSP00000407446.2:p.Ile114Met
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.342C>G
  hgvsp: ENSP00000424834.1:p.Ile114Met
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile143Met
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

1-161202719-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202719
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202719
    reference: chr 1
allele count: 4
allele frequency: 3.295164346321773e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.426C>T
  hgvsp: ENST00000367979.2:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.339C>T
  hgvsp: ENST00000512372.1:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.169C>T
  hgvsp: ENSP00000425607.1:p.His57Tyr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.199C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426292
  ensembl transcript: ENST00000511944
  gene symbol: NR1I3
  hgvsc: ENST00000511944.1:c.239-1455C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.339C>T
  hgvsp: ENST00000367981.3:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.426C>T
  hgvsp: ENST00000367984.4:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.339C>T
  hgvsp: ENST00000506018.1:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.169C>T
  hgvsp: ENSP00000423007.1:p.His57Tyr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.169C>T
  hgvsp: ENSP00000425900.1:p.His57Tyr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426016
  ensembl transcript: ENST00000502848
  gene symbol: NR1I3
  hgvsc: ENST00000502848.1:c.256C>T
  hgvsp: ENSP00000426016.1:p.His86Tyr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.339C>T
  hgvsp: ENST00000508740.1:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.426C>T
  hgvsp: ENST00000442691.2:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.339C>T
  hgvsp: ENST00000437437.2:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.426C>T
  hgvsp: ENST00000367983.4:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.201C>T
  hgvsp: ENST00000515621.1:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427600
  ensembl transcript: ENST00000511748
  gene symbol: NR1I3
  hgvsc: ENST00000511748.1:c.152-1455C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.339C>T
  hgvsp: ENST00000412844.2:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.426C>T
  hgvsp: ENST00000367985.3:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His57Tyr
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

1-161202726-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202726
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202726
    reference: chr 1
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1462A>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.332A>G
  hgvsp: ENSP00000424345.1:p.His111Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.192A>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.192A>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.419A>G
  hgvsp: ENSP00000356961.4:p.His140Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.162A>G
  hgvsp: ENST00000507215.1:c.162A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356959
  ensembl transcript: ENST00000367980
  gene symbol: NR1I3
  hgvsc: ENST00000367980.2:c.419A>G
  hgvsp: ENSP00000356959.2:p.His140Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.162A>G
  hgvsp: ENST00000512340.1:c.162A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426292
  ensembl transcript: ENST00000511944
  gene symbol: NR1I3
  hgvsc: ENST00000511944.1:c.239-1462A>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.419A>G
  hgvsp: ENSP00000356958.2:p.His140Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.332A>G
  hgvsp: ENSP00000423666.1:p.His111Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.419A>G
  hgvsp: ENSP00000424934.1:p.His140Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.332A>G
  hgvsp: ENSP00000407446.2:p.His111Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.332A>G
  hgvsp: ENSP00000425417.1:p.His111Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.194A>G
  hgvsp: ENSP00000421588.1:p.His65Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.419A>G
  hgvsp: ENSP00000406493.2:p.His140Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.332A>G
  hgvsp: ENSP00000424834.1:p.His111Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.332A>G
  hgvsp: ENSP00000356960.3:p.His111Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1462A>G
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His140Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP

1-161202767-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202767
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202767
    reference: chr 1
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.409-31G>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.322-31G>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.322-31G>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356959
  ensembl transcript: ENST00000367980
  gene symbol: NR1I3
  hgvsc: ENST00000367980.2:c.409-31G>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1503G>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426016
  ensembl transcript: ENST00000502848
  gene symbol: NR1I3
  hgvsc: ENST00000502848.1:c.239-31G>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.409-31G>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.322-31G>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.409-31G>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.322-31G>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.409-31G>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1503G>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.409-31G>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.409-31G>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.322-31G>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.152-31G>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.182-31G>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.152-31G>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.409-31G>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.184-31G>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.322-31G>C
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

1-161202775-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202775
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202775
    reference: chr 1
allele count: 1
allele frequency: 8.263506701703935e-6
allele num: 121014
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426016
  ensembl transcript: ENST00000502848
  gene symbol: NR1I3
  hgvsc: ENST00000502848.1:c.239-39T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426292
  ensembl transcript: ENST00000511944
  gene symbol: NR1I3
  hgvsc: ENST00000511944.1:c.239-1511T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.409-39T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.152-39T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.152-39T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.409-39T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.409-39T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.182-39T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1511T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.322-39T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.152-39T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.322-39T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.409-39T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.322-39T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.322-39T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1511T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356959
  ensembl transcript: ENST00000367980
  gene symbol: NR1I3
  hgvsc: ENST00000367980.2:c.409-39T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.409-39T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.322-39T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.182-39T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.409-39T>C
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-161202780-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202780
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202780
    reference: chr 1
allele count: 1
allele frequency: 8.269930532583527e-6
allele num: 120920
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.409-44G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.152-44G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.322-44G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.409-44G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.322-44G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.409-44G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.182-44G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1516G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.322-44G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.409-44G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.409-44G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.322-44G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.184-44G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.182-44G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.409-44G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.322-44G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427600
  ensembl transcript: ENST00000511748
  gene symbol: NR1I3
  hgvsc: ENST00000511748.1:c.152-1516G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.322-44G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.409-44G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356959
  ensembl transcript: ENST00000367980
  gene symbol: NR1I3
  hgvsc: ENST00000367980.2:c.409-44G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.152-44G>A
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ

1-161202912-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202912
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202912
    reference: chr 1
allele count: 1
allele frequency: 8.310065150910783e-6
allele num: 120336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.408+47C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.321+47C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.152-176C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.408+47C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.183+47C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.321+47C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.321+47C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1648C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.408+47C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.408+47C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427600
  ensembl transcript: ENST00000511748
  gene symbol: NR1I3
  hgvsc: ENST00000511748.1:c.152-1648C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.321+47C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.408+47C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356959
  ensembl transcript: ENST00000367980
  gene symbol: NR1I3
  hgvsc: ENST00000367980.2:c.408+47C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.152-176C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.321+47C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.408+47C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.182-176C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426292
  ensembl transcript: ENST00000511944
  gene symbol: NR1I3
  hgvsc: ENST00000511944.1:c.239-1648C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.408+47C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.408+47C>A
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

1-161202913-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202913
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202913
    reference: chr 1
allele count: 1
allele frequency: 8.307993951780402e-6
allele num: 120366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.321+46C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.321+46C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.152-177C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.408+46C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.321+46C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426292
  ensembl transcript: ENST00000511944
  gene symbol: NR1I3
  hgvsc: ENST00000511944.1:c.239-1649C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1649C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.408+46C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426016
  ensembl transcript: ENST00000502848
  gene symbol: NR1I3
  hgvsc: ENST00000502848.1:c.239-177C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.408+46C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.152-177C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.182-177C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1649C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.408+46C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.321+46C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.183+46C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.321+46C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.182-177C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.408+46C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.408+46C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.321+46C>G
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

1-161202914-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202914
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202914
    reference: chr 1
allele count: 4
allele frequency: 3.321817698644698e-5
allele num: 120416
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.321+45C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427600
  ensembl transcript: ENST00000511748
  gene symbol: NR1I3
  hgvsc: ENST00000511748.1:c.152-1650C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426016
  ensembl transcript: ENST00000502848
  gene symbol: NR1I3
  hgvsc: ENST00000502848.1:c.239-178C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.182-178C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1650C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.408+45C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1650C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.321+45C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.152-178C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.321+45C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426292
  ensembl transcript: ENST00000511944
  gene symbol: NR1I3
  hgvsc: ENST00000511944.1:c.239-1650C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.408+45C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.408+45C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.408+45C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.321+45C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.321+45C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.321+45C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.182-178C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.321+45C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.152-178C>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.408+45C>G
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-161202916-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202916
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202916
    reference: chr 1
allele count: 2
allele frequency: 1.661129568106312e-5
allele num: 120400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.152-180C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1652C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.321+43C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.408+43C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1652C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.321+43C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.183+43C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.182-180C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.408+43C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426292
  ensembl transcript: ENST00000511944
  gene symbol: NR1I3
  hgvsc: ENST00000511944.1:c.239-1652C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.321+43C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.408+43C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.152-180C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.152-180C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.408+43C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427600
  ensembl transcript: ENST00000511748
  gene symbol: NR1I3
  hgvsc: ENST00000511748.1:c.152-1652C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.408+43C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.182-180C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.408+43C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.321+43C>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.408+43C>A
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

1-161202919-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202919
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202919
    reference: chr 1
allele count: 3
allele frequency: 2.4911977678868e-5
allele num: 120424
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.183+40G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.321+40G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.152-183G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.182-183G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.321+40G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.408+40G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.408+40G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.321+40G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.408+40G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.321+40G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.182-183G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.408+40G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.321+40G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.408+40G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.152-183G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356959
  ensembl transcript: ENST00000367980
  gene symbol: NR1I3
  hgvsc: ENST00000367980.2:c.408+40G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1655G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.408+40G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.408+40G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1655G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.152-183G>A
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

1-161202926-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202926
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202926
    reference: chr 1
allele count: 3
allele frequency: 2.489626556016598e-5
allele num: 120500
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.321+33A>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.152-190A>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1662A>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.182-190A>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.183+33A>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.408+33A>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.152-190A>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.321+33A>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.408+33A>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426292
  ensembl transcript: ENST00000511944
  gene symbol: NR1I3
  hgvsc: ENST00000511944.1:c.239-1662A>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.321+33A>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.321+33A>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1662A>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.408+33A>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.321+33A>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.408+33A>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.408+33A>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.408+33A>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.321+33A>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.321+33A>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.182-190A>T
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-161202934-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202934
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202933
    reference: chr 1
allele count: 6
allele frequency: 4.974381933044819e-5
allele num: 120618
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426016
  ensembl transcript: ENST00000502848
  gene symbol: NR1I3
  hgvsc: ENST00000502848.1:c.239-199delT
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.183+24delT
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.152-199delT
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.408+24delT
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.408+24delT
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.408+24delT
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426292
  ensembl transcript: ENST00000511944
  gene symbol: NR1I3
  hgvsc: ENST00000511944.1:c.239-1671delT
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.182-199delT
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.152-199delT
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1671delT
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.152-199delT
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.321+24delT
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356959
  ensembl transcript: ENST00000367980
  gene symbol: NR1I3
  hgvsc: ENST00000367980.2:c.408+24delT
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.321+24delT
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.321+24delT
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1671delT
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.321+24delT
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.321+24delT
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.408+24delT
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.408+24delT
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.321+24delT
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
reference allele: CA
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

1-161202938-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202938
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202938
    reference: chr 1
allele count: 3
allele frequency: 2.484389751064147e-5
allele num: 120754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.321+21G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.408+21G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.182-202G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1674G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.152-202G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356959
  ensembl transcript: ENST00000367980
  gene symbol: NR1I3
  hgvsc: ENST00000367980.2:c.408+21G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1674G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.408+21G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.321+21G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.408+21G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426016
  ensembl transcript: ENST00000502848
  gene symbol: NR1I3
  hgvsc: ENST00000502848.1:c.239-202G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.408+21G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.152-202G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.321+21G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.321+21G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.152-202G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.408+21G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.408+21G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427600
  ensembl transcript: ENST00000511748
  gene symbol: NR1I3
  hgvsc: ENST00000511748.1:c.152-1674G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.182-202G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.183+21G>A
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

1-161202944-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202944
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202944
    reference: chr 1
allele count: 1
allele frequency: 8.269246671628215e-6
allele num: 120930
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.321+15G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.408+15G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.152-208G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.408+15G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.152-208G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.408+15G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.152-208G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.408+15G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.408+15G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.408+15G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.321+15G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1680G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.183+15G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.182-208G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426292
  ensembl transcript: ENST00000511944
  gene symbol: NR1I3
  hgvsc: ENST00000511944.1:c.239-1680G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.408+15G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1680G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.321+15G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.408+15G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.182-208G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.321+15G>A
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

1-161202950-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202950
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202950
    reference: chr 1
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.408+9C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.152-214C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.408+9C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.321+9C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.408+9C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.182-214C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.408+9C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356959
  ensembl transcript: ENST00000367980
  gene symbol: NR1I3
  hgvsc: ENST00000367980.2:c.408+9C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426292
  ensembl transcript: ENST00000511944
  gene symbol: NR1I3
  hgvsc: ENST00000511944.1:c.239-1686C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427600
  ensembl transcript: ENST00000511748
  gene symbol: NR1I3
  hgvsc: ENST00000511748.1:c.152-1686C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.321+9C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.321+9C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.408+9C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1686C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.321+9C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.408+9C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426016
  ensembl transcript: ENST00000502848
  gene symbol: NR1I3
  hgvsc: ENST00000502848.1:c.239-214C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.182-214C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.408+9C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.408+9C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.321+9C>T
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/1-161202958-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202958
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202958
    reference: chr 1
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.182-222G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.321+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.182-222G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.408+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.152-222G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.321+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.152-222G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.321+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.408+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.408+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.408+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.321+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.408+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356959
  ensembl transcript: ENST00000367980
  gene symbol: NR1I3
  hgvsc: ENST00000367980.2:c.408+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.321+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.183+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.152-222G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.321+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1694G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.408+1G>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.408+1G>T
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.408+1G>T
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

1-161202964-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202964
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202964
    reference: chr 1
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.182-228T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.316T>C
  hgvsp: ENSP00000424834.1:p.Phe106Leu
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.403T>C
  hgvsp: ENSP00000356962.4:p.Phe135Leu
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.178T>C
  hgvsp: ENSP00000421588.1:p.Phe60Leu
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.403T>C
  hgvsp: ENSP00000356961.4:p.Phe135Leu
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.403T>C
  hgvsp: ENSP00000356965.3:p.Phe135Leu
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.316T>C
  hgvsp: ENSP00000423089.1:p.Phe106Leu
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.403T>C
  hgvsp: ENSP00000424934.1:p.Phe135Leu
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.403T>C
  hgvsp: ENSP00000406493.2:p.Phe135Leu
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.182-228T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.316T>C
  hgvsp: ENSP00000423666.1:p.Phe106Leu
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.316T>C
  hgvsp: ENSP00000356960.3:p.Phe106Leu
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1700T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356959
  ensembl transcript: ENST00000367980
  gene symbol: NR1I3
  hgvsc: ENST00000367980.2:c.403T>C
  hgvsp: ENSP00000356959.2:p.Phe135Leu
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.316T>C
  hgvsp: ENSP00000407446.2:p.Phe106Leu
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.403T>C
  hgvsp: ENSP00000427034.1:p.Phe135Leu
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.403T>C
  hgvsp: ENSP00000412672.2:p.Phe135Leu
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.316T>C
  hgvsp: ENSP00000399361.2:p.Phe106Leu
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426016
  ensembl transcript: ENST00000502848
  gene symbol: NR1I3
  hgvsc: ENST00000502848.1:c.239-228T>C
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe135Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

1-161202970-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202970
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202970
    reference: chr 1
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.152-234G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1706G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.310G>A
  hgvsp: ENSP00000423089.1:p.Val104Met
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.397G>A
  hgvsp: ENSP00000424934.1:p.Val133Met
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.310G>A
  hgvsp: ENSP00000407446.2:p.Val104Met
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.310G>A
  hgvsp: ENSP00000425417.1:p.Val104Met
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.310G>A
  hgvsp: ENSP00000424834.1:p.Val104Met
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.310G>A
  hgvsp: ENSP00000356960.3:p.Val104Met
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.310G>A
  hgvsp: ENSP00000427175.1:p.Val104Met
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.152-234G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.310G>A
  hgvsp: ENSP00000424345.1:p.Val104Met
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.397G>A
  hgvsp: ENSP00000427034.1:p.Val133Met
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.182-234G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.397G>A
  hgvsp: ENSP00000356963.4:p.Val133Met
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.397G>A
  hgvsp: ENSP00000356961.4:p.Val133Met
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.397G>A
  hgvsp: ENSP00000356965.3:p.Val133Met
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.397G>A
  hgvsp: ENSP00000356962.4:p.Val133Met
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426292
  ensembl transcript: ENST00000511944
  gene symbol: NR1I3
  hgvsc: ENST00000511944.1:c.239-1706G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.310G>A
  hgvsp: ENSP00000423666.1:p.Val104Met
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val133Met
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

1-161202984-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202984
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202984
    reference: chr 1
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.296T>C
  hgvsp: ENSP00000424834.1:p.Met99Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.383T>C
  hgvsp: ENSP00000412672.2:p.Met128Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.182-248T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.383T>C
  hgvsp: ENSP00000356958.2:p.Met128Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.383T>C
  hgvsp: ENSP00000356962.4:p.Met128Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426292
  ensembl transcript: ENST00000511944
  gene symbol: NR1I3
  hgvsc: ENST00000511944.1:c.239-1720T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.296T>C
  hgvsp: ENSP00000407446.2:p.Met99Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.158T>C
  hgvsp: ENSP00000421588.1:p.Met53Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356959
  ensembl transcript: ENST00000367980
  gene symbol: NR1I3
  hgvsc: ENST00000367980.2:c.383T>C
  hgvsp: ENSP00000356959.2:p.Met128Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.383T>C
  hgvsp: ENSP00000424934.1:p.Met128Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.383T>C
  hgvsp: ENSP00000356961.4:p.Met128Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.152-248T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.152-248T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.296T>C
  hgvsp: ENSP00000424345.1:p.Met99Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.182-248T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.296T>C
  hgvsp: ENSP00000425417.1:p.Met99Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.296T>C
  hgvsp: ENSP00000399361.2:p.Met99Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.383T>C
  hgvsp: ENSP00000356965.3:p.Met128Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.296T>C
  hgvsp: ENSP00000356960.3:p.Met99Thr
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met128Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

1-161202985-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202985
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202985
    reference: chr 1
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.382A>G
  hgvsp: ENSP00000412672.2:p.Met128Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.382A>G
  hgvsp: ENSP00000356963.4:p.Met128Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.382A>G
  hgvsp: ENSP00000406493.2:p.Met128Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.152-249A>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1721A>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.295A>G
  hgvsp: ENSP00000399361.2:p.Met99Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.295A>G
  hgvsp: ENSP00000423089.1:p.Met99Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.295A>G
  hgvsp: ENSP00000425417.1:p.Met99Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  hgvsc: ENST00000507215.1:c.152-249A>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.382A>G
  hgvsp: ENSP00000427034.1:p.Met128Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356959
  ensembl transcript: ENST00000367980
  gene symbol: NR1I3
  hgvsc: ENST00000367980.2:c.382A>G
  hgvsp: ENSP00000356959.2:p.Met128Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.157A>G
  hgvsp: ENSP00000421588.1:p.Met53Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.382A>G
  hgvsp: ENSP00000356961.4:p.Met128Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.382A>G
  hgvsp: ENSP00000356965.3:p.Met128Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.295A>G
  hgvsp: ENSP00000424345.1:p.Met99Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.295A>G
  hgvsp: ENSP00000423666.1:p.Met99Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.295A>G
  hgvsp: ENSP00000356960.3:p.Met99Val
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.182-249A>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.382A>G
  hgvsp: ENSP00000424934.1:p.Met128Val
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: missense
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met128Val
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-161202985-T-TGGTGCCCATGTGGCGGGTGTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202985
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161203006
    reference: chr 1
allele count: 3
allele frequency: 2.471699045924168e-5
allele num: 121374
alternate allele: TGGTGCCCATGTGGCGGGTGTG
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsp: ENSP00000356965.3:p.His121_Thr127dup
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsp: ENSP00000356962.4:p.His121_Thr127dup
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsp: ENSP00000424934.1:p.His121_Thr127dup
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426016
  ensembl transcript: ENST00000502848
  gene symbol: NR1I3
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsp: ENSP00000427175.1:p.His92_Thr98dup
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsp: ENSP00000407446.2:p.His92_Thr98dup
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsp: ENSP00000423666.1:p.His92_Thr98dup
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsp: ENSP00000356960.3:p.His92_Thr98dup
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsp: ENSP00000425417.1:p.His92_Thr98dup
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427600
  ensembl transcript: ENST00000511748
  gene symbol: NR1I3
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsp: ENSP00000427034.1:p.His121_Thr127dup
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsp: ENSP00000399361.2:p.His92_Thr98dup
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsp: ENSP00000356963.4:p.His121_Thr127dup
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsp: ENSP00000412672.2:p.His121_Thr127dup
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsp: ENSP00000356961.4:p.His121_Thr127dup
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsp: ENSP00000356958.2:p.His121_Thr127dup
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425900
  ensembl transcript: ENST00000507215
  gene symbol: NR1I3
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426292
  ensembl transcript: ENST00000511944
  gene symbol: NR1I3
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His121_Thr127dup
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-161202993-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202993
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202993
    reference: chr 1
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.374T>G
  hgvsp: ENSP00000356961.4:p.Met125Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.287T>G
  hgvsp: ENSP00000407446.2:p.Met96Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.287T>G
  hgvsp: ENSP00000356960.3:p.Met96Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.287T>G
  hgvsp: ENSP00000424834.1:p.Met96Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1729T>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.152-257T>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356959
  ensembl transcript: ENST00000367980
  gene symbol: NR1I3
  hgvsc: ENST00000367980.2:c.374T>G
  hgvsp: ENSP00000356959.2:p.Met125Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.374T>G
  hgvsp: ENSP00000356958.2:p.Met125Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.374T>G
  hgvsp: ENSP00000424934.1:p.Met125Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.287T>G
  hgvsp: ENSP00000425417.1:p.Met96Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426016
  ensembl transcript: ENST00000502848
  gene symbol: NR1I3
  hgvsc: ENST00000502848.1:c.239-257T>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.374T>G
  hgvsp: ENSP00000406493.2:p.Met125Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.374T>G
  hgvsp: ENSP00000356962.4:p.Met125Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.374T>G
  hgvsp: ENSP00000412672.2:p.Met125Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.287T>G
  hgvsp: ENSP00000424345.1:p.Met96Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.287T>G
  hgvsp: ENSP00000423089.1:p.Met96Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.287T>G
  hgvsp: ENSP00000427175.1:p.Met96Arg
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.152-257T>G
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.182-257T>G
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met125Arg
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

1-161202993-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202993
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202993
    reference: chr 1
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427600
  ensembl transcript: ENST00000511748
  gene symbol: NR1I3
  hgvsc: ENST00000511748.1:c.152-1729T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.182-257T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1729T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.152-257T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1729T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.149T>C
  hgvsp: ENSP00000421588.1:p.Met50Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.287T>C
  hgvsp: ENSP00000423666.1:p.Met96Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.287T>C
  hgvsp: ENSP00000424345.1:p.Met96Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.374T>C
  hgvsp: ENSP00000356965.3:p.Met125Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356959
  ensembl transcript: ENST00000367980
  gene symbol: NR1I3
  hgvsc: ENST00000367980.2:c.374T>C
  hgvsp: ENSP00000356959.2:p.Met125Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.152-257T>C
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.374T>C
  hgvsp: ENSP00000427034.1:p.Met125Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.287T>C
  hgvsp: ENSP00000424834.1:p.Met96Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.287T>C
  hgvsp: ENSP00000356960.3:p.Met96Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.374T>C
  hgvsp: ENSP00000356958.2:p.Met125Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.374T>C
  hgvsp: ENSP00000424934.1:p.Met125Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.374T>C
  hgvsp: ENSP00000356962.4:p.Met125Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.374T>C
  hgvsp: ENSP00000412672.2:p.Met125Thr
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426292
  ensembl transcript: ENST00000511944
  gene symbol: NR1I3
  hgvsc: ENST00000511944.1:c.239-1729T>C
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met125Thr
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

1-161202995-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202995
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202995
    reference: chr 1
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.285C>T
  hgvsp: ENST00000506018.1:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.285C>T
  hgvsp: ENST00000506209.1:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356959
  ensembl transcript: ENST00000367980
  gene symbol: NR1I3
  hgvsc: ENST00000367980.2:c.372C>T
  hgvsp: ENST00000367980.2:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.285C>T
  hgvsp: ENST00000412844.2:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426292
  ensembl transcript: ENST00000511944
  gene symbol: NR1I3
  hgvsc: ENST00000511944.1:c.239-1731C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427600
  ensembl transcript: ENST00000511748
  gene symbol: NR1I3
  hgvsc: ENST00000511748.1:c.152-1731C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.372C>T
  hgvsp: ENST00000515452.1:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.152-259C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.147C>T
  hgvsp: ENST00000515621.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000505944
  gene symbol: NR1I3
  hgvsc: ENST00000505944.1:n.182-259C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.152-259C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.372C>T
  hgvsp: ENST00000367984.4:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356962
  ensembl transcript: ENST00000367983
  gene symbol: NR1I3
  hgvsc: ENST00000367983.4:c.372C>T
  hgvsp: ENST00000367983.4:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426016
  ensembl transcript: ENST00000502848
  gene symbol: NR1I3
  hgvsc: ENST00000502848.1:c.239-259C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.285C>T
  hgvsp: ENST00000437437.2:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.285C>T
  hgvsp: ENST00000367981.3:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.372C>T
  hgvsp: ENST00000367982.4:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.372C>T
  hgvsp: ENST00000367985.3:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.372C>T
  hgvsp: ENST00000505005.1:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His124His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-161202999-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161202999
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161202999
    reference: chr 1
allele count: 73
allele frequency: 6.016847172081829e-4
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421374
  ensembl transcript: ENST00000502985
  gene symbol: NR1I3
  hgvsc: ENST00000502985.1:c.239-1735G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.281G>A
  hgvsp: ENSP00000407446.2:p.Arg94His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.368G>A
  hgvsp: ENSP00000406493.2:p.Arg123His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425417
  ensembl transcript: ENST00000512372
  gene symbol: NR1I3
  hgvsc: ENST00000512372.1:c.281G>A
  hgvsp: ENSP00000425417.1:p.Arg94His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.368G>A
  hgvsp: ENSP00000356958.2:p.Arg123His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.281G>A
  hgvsp: ENSP00000423089.1:p.Arg94His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.152-263G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.281G>A
  hgvsp: ENSP00000424834.1:p.Arg94His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl transcript: ENST00000503547
  gene symbol: NR1I3
  hgvsc: ENST00000503547.1:n.182-263G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427175
  ensembl transcript: ENST00000511676
  gene symbol: NR1I3
  hgvsc: ENST00000511676.1:c.281G>A
  hgvsp: ENSP00000427175.1:p.Arg94His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356959
  ensembl transcript: ENST00000367980
  gene symbol: NR1I3
  hgvsc: ENST00000367980.2:c.368G>A
  hgvsp: ENSP00000356959.2:p.Arg123His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.368G>A
  hgvsp: ENSP00000356965.3:p.Arg123His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424345
  ensembl transcript: ENST00000504010
  gene symbol: NR1I3
  hgvsc: ENST00000504010.1:c.281G>A
  hgvsp: ENSP00000424345.1:p.Arg94His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.143G>A
  hgvsp: ENSP00000421588.1:p.Arg48His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426016
  ensembl transcript: ENST00000502848
  gene symbol: NR1I3
  hgvsc: ENST00000502848.1:c.239-263G>A
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427034
  ensembl transcript: ENST00000515452
  gene symbol: NR1I3
  hgvsc: ENST00000515452.1:c.368G>A
  hgvsp: ENSP00000427034.1:p.Arg123His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424934
  ensembl transcript: ENST00000505005
  gene symbol: NR1I3
  hgvsc: ENST00000505005.1:c.368G>A
  hgvsp: ENSP00000424934.1:p.Arg123His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.368G>A
  hgvsp: ENSP00000412672.2:p.Arg123His
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.281G>A
  hgvsp: ENSP00000423666.1:p.Arg94His
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg123His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

1-161203000-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161203000
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161203000
    reference: chr 1
allele count: 3
allele frequency: 2.472269378471478e-5
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000426292
  ensembl transcript: ENST00000511944
  gene symbol: NR1I3
  hgvsc: ENST00000511944.1:c.239-1736C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000406493
  ensembl transcript: ENST00000442691
  gene symbol: NR1I3
  hgvsc: ENST00000442691.2:c.367C>T
  hgvsp: ENSP00000406493.2:p.Arg123Cys
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423666
  ensembl transcript: ENST00000508740
  gene symbol: NR1I3
  hgvsc: ENST00000508740.1:c.280C>T
  hgvsp: ENSP00000423666.1:p.Arg94Cys
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356960
  ensembl transcript: ENST00000367981
  gene symbol: NR1I3
  hgvsc: ENST00000367981.3:c.280C>T
  hgvsp: ENSP00000356960.3:p.Arg94Cys
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356965
  ensembl transcript: ENST00000367985
  gene symbol: NR1I3
  hgvsc: ENST00000367985.3:c.367C>T
  hgvsp: ENSP00000356965.3:p.Arg123Cys
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000424834
  ensembl transcript: ENST00000506018
  gene symbol: NR1I3
  hgvsc: ENST00000506018.1:c.280C>T
  hgvsp: ENSP00000424834.1:p.Arg94Cys
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000425607
  ensembl transcript: ENST00000510951
  gene symbol: NR1I3
  hgvsc: ENST00000510951.1:c.152-264C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000422982
  ensembl transcript: ENST00000508387
  gene symbol: NR1I3
  hgvsc: ENST00000508387.1:c.152-1736C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356961
  ensembl transcript: ENST00000367982
  gene symbol: NR1I3
  hgvsc: ENST00000367982.4:c.367C>T
  hgvsp: ENSP00000356961.4:p.Arg123Cys
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356958
  ensembl transcript: ENST00000367979
  gene symbol: NR1I3
  hgvsc: ENST00000367979.2:c.367C>T
  hgvsp: ENSP00000356958.2:p.Arg123Cys
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000427600
  ensembl transcript: ENST00000511748
  gene symbol: NR1I3
  hgvsc: ENST00000511748.1:c.152-1736C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356963
  ensembl transcript: ENST00000367984
  gene symbol: NR1I3
  hgvsc: ENST00000367984.4:c.367C>T
  hgvsp: ENSP00000356963.4:p.Arg123Cys
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000399361
  ensembl transcript: ENST00000412844
  gene symbol: NR1I3
  hgvsc: ENST00000412844.2:c.280C>T
  hgvsp: ENSP00000399361.2:p.Arg94Cys
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423007
  ensembl transcript: ENST00000512340
  gene symbol: NR1I3
  hgvsc: ENST00000512340.1:c.152-264C>T
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000421588
  ensembl transcript: ENST00000515621
  gene symbol: NR1I3
  hgvsc: ENST00000515621.1:c.142C>T
  hgvsp: ENSP00000421588.1:p.Arg48Cys
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000407446
  ensembl transcript: ENST00000437437
  gene symbol: NR1I3
  hgvsc: ENST00000437437.2:c.280C>T
  hgvsp: ENSP00000407446.2:p.Arg94Cys
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000356959
  ensembl transcript: ENST00000367980
  gene symbol: NR1I3
  hgvsc: ENST00000367980.2:c.367C>T
  hgvsp: ENSP00000356959.2:p.Arg123Cys
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000412672
  ensembl transcript: ENST00000428574
  gene symbol: NR1I3
  hgvsc: ENST00000428574.2:c.367C>T
  hgvsp: ENSP00000412672.2:p.Arg123Cys
  variant of: http://identifiers.org/hgnc/7969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143257
  ensembl protein: ENSP00000423089
  ensembl transcript: ENST00000506209
  gene symbol: NR1I3
  hgvsc: ENST00000506209.1:c.280C>T
  hgvsp: ENSP00000423089.1:p.Arg94Cys
  variant of: http://identifiers.org/hgnc/7969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg123Cys
num of homozygotes: 0
reference allele: G

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356965
ensembl transcript: ENST00000367985
gene symbol: NR1I3
hgvsc: ENST00000367985.3:c.548+8A>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426016
ensembl transcript: ENST00000502848
gene symbol: NR1I3
hgvsc: ENST00000502848.1:c.*18+8A>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000407446
ensembl transcript: ENST00000437437
gene symbol: NR1I3
hgvsc: ENST00000437437.2:c.461+8A>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356961
ensembl transcript: ENST00000367982
gene symbol: NR1I3
hgvsc: ENST00000367982.4:c.548+8A>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: true
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356959
ensembl transcript: ENST00000367980
gene symbol: NR1I3
hgvsc: ENST00000367980.2:c.548+8A>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421374
ensembl transcript: ENST00000502985
gene symbol: NR1I3
hgvsc: ENST00000502985.1:c.239-1325A>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000412672
ensembl transcript: ENST00000428574
gene symbol: NR1I3
hgvsc: ENST00000428574.2:c.548+8A>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1325A>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000488651
gene symbol: NR1I3
hgvsc: ENST00000488651.1:n.56+8A>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356962
ensembl transcript: ENST00000367983
gene symbol: NR1I3
hgvsc: ENST00000367983.4:c.548+8A>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424834
ensembl transcript: ENST00000506018
gene symbol: NR1I3
hgvsc: ENST00000506018.1:c.461+8A>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426292
ensembl transcript: ENST00000511944
gene symbol: NR1I3
hgvsc: ENST00000511944.1:c.239-1325A>C
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 42
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4537
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3528
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4534
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5455
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6246
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3496
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3379
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3657
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6276
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3539
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2566
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1213
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1781
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3805
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5592
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 893
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1617
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2041
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5406
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1630
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1573
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46160
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.43e0

FS
type: SiteQuality
SIO_000300: 4.329e0

VQSLOD
type: SiteQuality
SIO_000300: -1.612e0

MQRankSum
type: SiteQuality
SIO_000300: -1.063e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-3

QD
type: SiteQuality
SIO_000300: 6.29e0

DP
type: SiteQuality
SIO_000300: 3.418161e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

Annotation
canonical: false
consequence: splice_donor_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000399361
ensembl transcript: ENST00000412844
gene symbol: NR1I3
hgvsc: ENST00000412844.2:c.461+1G>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: splice_donor_variant
consequence: non_coding_transcript_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000505944
gene symbol: NR1I3
hgvsc: ENST00000505944.1:n.321+1G>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: true
consequence: splice_donor_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356959
ensembl transcript: ENST00000367980
gene symbol: NR1I3
hgvsc: ENST00000367980.2:c.548+1G>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: splice_donor_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000406493
ensembl transcript: ENST00000442691
gene symbol: NR1I3
hgvsc: ENST00000442691.2:c.548+1G>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1332G>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: splice_donor_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423666
ensembl transcript: ENST00000508740
gene symbol: NR1I3
hgvsc: ENST00000508740.1:c.461+1G>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: splice_donor_variant
consequence: non_coding_transcript_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000488651
gene symbol: NR1I3
hgvsc: ENST00000488651.1:n.56+1G>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: splice_donor_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426016
ensembl transcript: ENST00000502848
gene symbol: NR1I3
hgvsc: ENST00000502848.1:c.*18+1G>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: splice_donor_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424345
ensembl transcript: ENST00000504010
gene symbol: NR1I3
hgvsc: ENST00000504010.1:c.461+1G>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421374
ensembl transcript: ENST00000502985
gene symbol: NR1I3
hgvsc: ENST00000502985.1:c.239-1332G>T
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 3495
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1213
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6248
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3551
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4538
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3801
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2566
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3528
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4537
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5460
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3692
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 893
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1782
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3404
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5592
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6276
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46168
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1635
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1632
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5456
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1588
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2054
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.049e0

QD
type: SiteQuality
SIO_000300: 8.31e0

VQSLOD
type: SiteQuality
SIO_000300: -7.373e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

DP
type: SiteQuality
SIO_000300: 3.41967e6

FS
type: SiteQuality
SIO_000300: 2.869e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424834
ensembl transcript: ENST00000506018
gene symbol: NR1I3
hgvsc: ENST00000506018.1:c.461G>A
hgvsp: ENSP00000424834.1:p.Arg154His
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425607
ensembl transcript: ENST00000510951
gene symbol: NR1I3
hgvsc: ENST00000510951.1:c.*18G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356960
ensembl transcript: ENST00000367981
gene symbol: NR1I3
hgvsc: ENST00000367981.3:c.461G>A
hgvsp: ENSP00000356960.3:p.Arg154His
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421374
ensembl transcript: ENST00000502985
gene symbol: NR1I3
hgvsc: ENST00000502985.1:c.239-1333G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426016
ensembl transcript: ENST00000502848
gene symbol: NR1I3
hgvsc: ENST00000502848.1:c.*18G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356963
ensembl transcript: ENST00000367984
gene symbol: NR1I3
hgvsc: ENST00000367984.4:c.548G>A
hgvsp: ENSP00000356963.4:p.Arg183His
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000406493
ensembl transcript: ENST00000442691
gene symbol: NR1I3
hgvsc: ENST00000442691.2:c.548G>A
hgvsp: ENSP00000406493.2:p.Arg183His
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1333G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000412672
ensembl transcript: ENST00000428574
gene symbol: NR1I3
hgvsc: ENST00000428574.2:c.548G>A
hgvsp: ENSP00000412672.2:p.Arg183His
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: true
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356959
ensembl transcript: ENST00000367980
gene symbol: NR1I3
hgvsc: ENST00000367980.2:c.548G>A
hgvsp: ENSP00000356959.2:p.Arg183His
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000422982
ensembl transcript: ENST00000508387
gene symbol: NR1I3
hgvsc: ENST00000508387.1:c.152-1333G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424934
ensembl transcript: ENST00000505005
gene symbol: NR1I3
hgvsc: ENST00000505005.1:c.548G>A
hgvsp: ENSP00000424934.1:p.Arg183His
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423089
ensembl transcript: ENST00000506209
gene symbol: NR1I3
hgvsc: ENST00000506209.1:c.461G>A
hgvsp: ENSP00000423089.1:p.Arg154His
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 3496
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3698
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2566
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3789
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 893
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5591
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6250
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6278
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3405
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1782
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5460
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1213
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3528
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3554
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4543
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4538
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1631
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1589
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1637
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2050
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5439
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1010
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46172
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.420224e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.535e0

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

FS
type: SiteQuality
SIO_000300: 7.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

QD
type: SiteQuality
SIO_000300: 1.203e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.72e-1

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000399361
ensembl transcript: ENST00000412844
gene symbol: NR1I3
hgvsc: ENST00000412844.2:c.460C>T
hgvsp: ENSP00000399361.2:p.Arg154Cys
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423666
ensembl transcript: ENST00000508740
gene symbol: NR1I3
hgvsc: ENST00000508740.1:c.460C>T
hgvsp: ENSP00000423666.1:p.Arg154Cys
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421588
ensembl transcript: ENST00000515621
gene symbol: NR1I3
hgvsc: ENST00000515621.1:c.322C>T
hgvsp: ENSP00000421588.1:p.Arg108Cys
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425607
ensembl transcript: ENST00000510951
gene symbol: NR1I3
hgvsc: ENST00000510951.1:c.*17C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425417
ensembl transcript: ENST00000512372
gene symbol: NR1I3
hgvsc: ENST00000512372.1:c.460C>T
hgvsp: ENSP00000425417.1:p.Arg154Cys
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000505944
gene symbol: NR1I3
hgvsc: ENST00000505944.1:n.320C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000406493
ensembl transcript: ENST00000442691
gene symbol: NR1I3
hgvsc: ENST00000442691.2:c.547C>T
hgvsp: ENSP00000406493.2:p.Arg183Cys
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356963
ensembl transcript: ENST00000367984
gene symbol: NR1I3
hgvsc: ENST00000367984.4:c.547C>T
hgvsp: ENSP00000356963.4:p.Arg183Cys
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424834
ensembl transcript: ENST00000506018
gene symbol: NR1I3
hgvsc: ENST00000506018.1:c.460C>T
hgvsp: ENSP00000424834.1:p.Arg154Cys
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356962
ensembl transcript: ENST00000367983
gene symbol: NR1I3
hgvsc: ENST00000367983.4:c.547C>T
hgvsp: ENSP00000356962.4:p.Arg183Cys
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421374
ensembl transcript: ENST00000502985
gene symbol: NR1I3
hgvsc: ENST00000502985.1:c.239-1334C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426016
ensembl transcript: ENST00000502848
gene symbol: NR1I3
hgvsc: ENST00000502848.1:c.*17C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000412672
ensembl transcript: ENST00000428574
gene symbol: NR1I3
hgvsc: ENST00000428574.2:c.547C>T
hgvsp: ENSP00000412672.2:p.Arg183Cys
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 1214
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6276
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2566
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3552
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5459
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4539
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6250
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1784
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 5592
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 893
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3707
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3790
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4538
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3528
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3497
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3408
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46178
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2054
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5453
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1639
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1595
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 962
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.498155756139982e-5
allele num: 66694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.420485e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 1.309e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.66e-1

FS
type: SiteQuality
SIO_000300: 3.8e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356959
ensembl transcript: ENST00000367980
gene symbol: NR1I3
hgvsc: ENST00000367980.2:c.541G>A
hgvsp: ENSP00000356959.2:p.Val181Ile
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424345
ensembl transcript: ENST00000504010
gene symbol: NR1I3
hgvsc: ENST00000504010.1:c.454G>A
hgvsp: ENSP00000424345.1:p.Val152Ile
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423007
ensembl transcript: ENST00000512340
gene symbol: NR1I3
hgvsc: ENST00000512340.1:c.*11G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426292
ensembl transcript: ENST00000511944
gene symbol: NR1I3
hgvsc: ENST00000511944.1:c.239-1340G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356965
ensembl transcript: ENST00000367985
gene symbol: NR1I3
hgvsc: ENST00000367985.3:c.541G>A
hgvsp: ENSP00000356965.3:p.Val181Ile
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424834
ensembl transcript: ENST00000506018
gene symbol: NR1I3
hgvsc: ENST00000506018.1:c.454G>A
hgvsp: ENSP00000424834.1:p.Val152Ile
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425417
ensembl transcript: ENST00000512372
gene symbol: NR1I3
hgvsc: ENST00000512372.1:c.454G>A
hgvsp: ENSP00000425417.1:p.Val152Ile
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424934
ensembl transcript: ENST00000505005
gene symbol: NR1I3
hgvsc: ENST00000505005.1:c.541G>A
hgvsp: ENSP00000424934.1:p.Val181Ile
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000503547
gene symbol: NR1I3
hgvsc: ENST00000503547.1:n.314G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000406493
ensembl transcript: ENST00000442691
gene symbol: NR1I3
hgvsc: ENST00000442691.2:c.541G>A
hgvsp: ENSP00000406493.2:p.Val181Ile
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000505944
gene symbol: NR1I3
hgvsc: ENST00000505944.1:n.314G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423089
ensembl transcript: ENST00000506209
gene symbol: NR1I3
hgvsc: ENST00000506209.1:c.454G>A
hgvsp: ENSP00000423089.1:p.Val152Ile
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 3558
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2567
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3732
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6276
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3776
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4544
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5459
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 893
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3416
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6250
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3500
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 1215
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3529
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 5592
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4538
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1782
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5470
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2063
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46185
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1595
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1639
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1642
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.767012687427913e-4
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

FS
type: SiteQuality
SIO_000300: 3.641e0

QD
type: SiteQuality
SIO_000300: 1.171e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

DP
type: SiteQuality
SIO_000300: 3.421625e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.41e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000412672
ensembl transcript: ENST00000428574
gene symbol: NR1I3
hgvsc: ENST00000428574.2:c.540C>T
hgvsp: ENST00000428574.2:c.540C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1341C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000503547
gene symbol: NR1I3
hgvsc: ENST00000503547.1:n.313C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356965
ensembl transcript: ENST00000367985
gene symbol: NR1I3
hgvsc: ENST00000367985.3:c.540C>T
hgvsp: ENST00000367985.3:c.540C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426016
ensembl transcript: ENST00000502848
gene symbol: NR1I3
hgvsc: ENST00000502848.1:c.*10C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356959
ensembl transcript: ENST00000367980
gene symbol: NR1I3
hgvsc: ENST00000367980.2:c.540C>T
hgvsp: ENST00000367980.2:c.540C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425900
ensembl transcript: ENST00000507215
gene symbol: NR1I3
hgvsc: ENST00000507215.1:c.*10C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424345
ensembl transcript: ENST00000504010
gene symbol: NR1I3
hgvsc: ENST00000504010.1:c.453C>T
hgvsp: ENST00000504010.1:c.453C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423007
ensembl transcript: ENST00000512340
gene symbol: NR1I3
hgvsc: ENST00000512340.1:c.*10C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424934
ensembl transcript: ENST00000505005
gene symbol: NR1I3
hgvsc: ENST00000505005.1:c.540C>T
hgvsp: ENST00000505005.1:c.540C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000488651
gene symbol: NR1I3
hgvsc: ENST00000488651.1:n.48C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425607
ensembl transcript: ENST00000510951
gene symbol: NR1I3
hgvsc: ENST00000510951.1:c.*10C>T
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 1505
bin: 8.75e1
variant carriers: 1108

GenotypeDepth
all individuals: 3315
bin: 5.25e1
variant carriers: 638

GenotypeDepth
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2252
bin: 2.75e1
variant carriers: 162

GenotypeDepth
all individuals: 18
bin: 1.25e1
variant carriers: 8

GenotypeDepth
all individuals: 2217
bin: 3.75e1
variant carriers: 320

GenotypeDepth
all individuals: 1821
bin: 2.25e1
variant carriers: 69

GenotypeDepth
all individuals: 2991
bin: 4.75e1
variant carriers: 511

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3216
bin: 5.75e1
variant carriers: 704

GenotypeDepth
all individuals: 1755
bin: 7.75e1
variant carriers: 870

GenotypeDepth
all individuals: 1558
bin: 8.25e1
variant carriers: 983

GenotypeDepth
all individuals: 2878
bin: 6.25e1
variant carriers: 743

GenotypeDepth
all individuals: 2442
bin: 6.75e1
variant carriers: 760

GenotypeDepth
all individuals: 41
bin: 1.75e1
variant carriers: 30

GenotypeDepth
all individuals: 2172
bin: 3.25e1
variant carriers: 234

GenotypeDepth
all individuals: 26220
bin: 9.75e1
variant carriers: 25136

GenotypeDepth
all individuals: 1494
bin: 9.25e1
variant carriers: 1210

GenotypeDepth
all individuals: 2707
bin: 4.25e1
variant carriers: 398

GenotypeDepth
all individuals: 2094
bin: 7.25e1
variant carriers: 836

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1248
bin: 6.75e1
variant carriers: 5

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 4

GenotypeQuality
all individuals: 998
bin: 8.25e1
variant carriers: 22

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3595
bin: 6.25e1
variant carriers: 4

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 5

GenotypeQuality
all individuals: 892
bin: 7.75e1
variant carriers: 17

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 5

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 512
bin: 7.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1052
bin: 9.25e1
variant carriers: 16

GenotypeQuality
all individuals: 563
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 51713
bin: 9.75e1
variant carriers: 34620

Latino
type: Population
allele count: 4572
allele frequency: 3.950233281493001e-1
allele num: 11574
num of homozygotes: 903

Other
type: Population
allele count: 307
allele frequency: 3.381057268722467e-1
allele num: 908
num of homozygotes: 47

East Asian
type: Population
allele count: 4630
allele frequency: 5.362520268705119e-1
allele num: 8634
num of homozygotes: 1262

South Asian
type: Population
allele count: 6588
allele frequency: 3.989825581395349e-1
allele num: 16512
num of homozygotes: 1356

European (Non-Finnish)
type: Population
allele count: 23219
allele frequency: 3.480796330165202e-1
allele num: 66706
num of homozygotes: 4143

European (Finnish)
type: Population
allele count: 2101
allele frequency: 3.176595101300272e-1
allele num: 6614
num of homozygotes: 346

African
type: Population
allele count: 1471
allele frequency: 1.414423076923077e-1
allele num: 10400
num of homozygotes: 115

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.38e-2

FS
type: SiteQuality
SIO_000300: 5.659999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.795e1

VQSLOD
type: SiteQuality
SIO_000300: 4.88e0

DP
type: SiteQuality
SIO_000300: 5.596083e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423089
ensembl transcript: ENST00000506209
gene symbol: NR1I3
hgvsc: ENST00000506209.1:c.450G>A
hgvsp: ENST00000506209.1:c.450G>A(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426292
ensembl transcript: ENST00000511944
gene symbol: NR1I3
hgvsc: ENST00000511944.1:c.239-1344G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356965
ensembl transcript: ENST00000367985
gene symbol: NR1I3
hgvsc: ENST00000367985.3:c.537G>A
hgvsp: ENST00000367985.3:c.537G>A(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424834
ensembl transcript: ENST00000506018
gene symbol: NR1I3
hgvsc: ENST00000506018.1:c.450G>A
hgvsp: ENST00000506018.1:c.450G>A(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000488651
gene symbol: NR1I3
hgvsc: ENST00000488651.1:n.45G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426016
ensembl transcript: ENST00000502848
gene symbol: NR1I3
hgvsc: ENST00000502848.1:c.*7G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1344G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421588
ensembl transcript: ENST00000515621
gene symbol: NR1I3
hgvsc: ENST00000515621.1:c.312G>A
hgvsp: ENST00000515621.1:c.312G>A(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000505944
gene symbol: NR1I3
hgvsc: ENST00000505944.1:n.310G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000422982
ensembl transcript: ENST00000508387
gene symbol: NR1I3
hgvsc: ENST00000508387.1:c.152-1344G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424934
ensembl transcript: ENST00000505005
gene symbol: NR1I3
hgvsc: ENST00000505005.1:c.537G>A
hgvsp: ENST00000505005.1:c.537G>A(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423007
ensembl transcript: ENST00000512340
gene symbol: NR1I3
hgvsc: ENST00000512340.1:c.*7G>A
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 5851
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6107
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5209
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1123
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4698
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5833
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2420
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5029
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2327
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5166
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2824
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 776
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4384
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1526
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4169
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3211
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2885
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1269
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40819
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7788
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2391
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2190
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49599856128046e-5
allele num: 66726
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.079e1

MQRankSum
type: SiteQuality
SIO_000300: -1.975e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.054e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

DP
type: SiteQuality
SIO_000300: 3.302887e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.678e0

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425900
ensembl transcript: ENST00000507215
gene symbol: NR1I3
hgvsc: ENST00000507215.1:c.*3A>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000422982
ensembl transcript: ENST00000508387
gene symbol: NR1I3
hgvsc: ENST00000508387.1:c.152-1348A>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356962
ensembl transcript: ENST00000367983
gene symbol: NR1I3
hgvsc: ENST00000367983.4:c.533A>C
hgvsp: ENSP00000356962.4:p.Asp178Ala
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425607
ensembl transcript: ENST00000510951
gene symbol: NR1I3
hgvsc: ENST00000510951.1:c.*3A>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421374
ensembl transcript: ENST00000502985
gene symbol: NR1I3
hgvsc: ENST00000502985.1:c.239-1348A>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1348A>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425417
ensembl transcript: ENST00000512372
gene symbol: NR1I3
hgvsc: ENST00000512372.1:c.446A>C
hgvsp: ENSP00000425417.1:p.Asp149Ala
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000503547
gene symbol: NR1I3
hgvsc: ENST00000503547.1:n.306A>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426292
ensembl transcript: ENST00000511944
gene symbol: NR1I3
hgvsc: ENST00000511944.1:c.239-1348A>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423666
ensembl transcript: ENST00000508740
gene symbol: NR1I3
hgvsc: ENST00000508740.1:c.446A>C
hgvsp: ENSP00000423666.1:p.Asp149Ala
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424834
ensembl transcript: ENST00000506018
gene symbol: NR1I3
hgvsc: ENST00000506018.1:c.446A>C
hgvsp: ENSP00000424834.1:p.Asp149Ala
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000406493
ensembl transcript: ENST00000442691
gene symbol: NR1I3
hgvsc: ENST00000442691.2:c.533A>C
hgvsp: ENSP00000406493.2:p.Asp178Ala
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 2422
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4382
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5851
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 3213
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1125
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4170
bin: 6.75e1
variant carriers: 3

GenotypeDepth
all individuals: 4695
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5831
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5041
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5210
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6108
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2326
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 778
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 5166
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1527
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2816
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 17
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7807
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1275
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 2897
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40687
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 5

GenotypeQuality
all individuals: 2031
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2397
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2193
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.349487194865951e-4
allele num: 66692
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.053268765133172e-4
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.177e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

QD
type: SiteQuality
SIO_000300: 5.0e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

DP
type: SiteQuality
SIO_000300: 3.300812e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e-1

FS
type: SiteQuality
SIO_000300: 1.33247e2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.109e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000503547
gene symbol: NR1I3
hgvsc: ENST00000503547.1:n.305G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425900
ensembl transcript: ENST00000507215
gene symbol: NR1I3
hgvsc: ENST00000507215.1:c.*2G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356959
ensembl transcript: ENST00000367980
gene symbol: NR1I3
hgvsc: ENST00000367980.2:c.532G>A
hgvsp: ENSP00000356959.2:p.Asp178Asn
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000488651
gene symbol: NR1I3
hgvsc: ENST00000488651.1:n.40G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426292
ensembl transcript: ENST00000511944
gene symbol: NR1I3
hgvsc: ENST00000511944.1:c.239-1349G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423666
ensembl transcript: ENST00000508740
gene symbol: NR1I3
hgvsc: ENST00000508740.1:c.445G>A
hgvsp: ENSP00000423666.1:p.Asp149Asn
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426016
ensembl transcript: ENST00000502848
gene symbol: NR1I3
hgvsc: ENST00000502848.1:c.*2G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421588
ensembl transcript: ENST00000515621
gene symbol: NR1I3
hgvsc: ENST00000515621.1:c.307G>A
hgvsp: ENSP00000421588.1:p.Asp103Asn
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423007
ensembl transcript: ENST00000512340
gene symbol: NR1I3
hgvsc: ENST00000512340.1:c.*2G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356962
ensembl transcript: ENST00000367983
gene symbol: NR1I3
hgvsc: ENST00000367983.4:c.532G>A
hgvsp: ENSP00000356962.4:p.Asp178Asn
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1349G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000505944
gene symbol: NR1I3
hgvsc: ENST00000505944.1:n.305G>A
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 777
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5851
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5050
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4701
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2739
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2417
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1536
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2327
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6115
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3214
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5846
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5224
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4174
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5169
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4394
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2023
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7817
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1274
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2196
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40783
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2889
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.114e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.29181e6

QD
type: SiteQuality
SIO_000300: 1.145e1

MQ
type: SiteQuality
SIO_000300: 5.944e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.73e-1

FS
type: SiteQuality
SIO_000300: 1.359e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.2e-2

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425900
ensembl transcript: ENST00000507215
gene symbol: NR1I3
hgvsc: ENST00000507215.1:c.257G>A
hgvsp: ENSP00000425900.1:p.Ser86Asn
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424834
ensembl transcript: ENST00000506018
gene symbol: NR1I3
hgvsc: ENST00000506018.1:c.427G>A
hgvsp: ENSP00000424834.1:p.Val143Ile
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421374
ensembl transcript: ENST00000502985
gene symbol: NR1I3
hgvsc: ENST00000502985.1:c.239-1367G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356961
ensembl transcript: ENST00000367982
gene symbol: NR1I3
hgvsc: ENST00000367982.4:c.514G>A
hgvsp: ENSP00000356961.4:p.Val172Ile
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424345
ensembl transcript: ENST00000504010
gene symbol: NR1I3
hgvsc: ENST00000504010.1:c.427G>A
hgvsp: ENSP00000424345.1:p.Val143Ile
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000505944
gene symbol: NR1I3
hgvsc: ENST00000505944.1:n.287G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000422982
ensembl transcript: ENST00000508387
gene symbol: NR1I3
hgvsc: ENST00000508387.1:c.152-1367G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426292
ensembl transcript: ENST00000511944
gene symbol: NR1I3
hgvsc: ENST00000511944.1:c.239-1367G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000503547
gene symbol: NR1I3
hgvsc: ENST00000503547.1:n.287G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000488651
gene symbol: NR1I3
hgvsc: ENST00000488651.1:n.22G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421588
ensembl transcript: ENST00000515621
gene symbol: NR1I3
hgvsc: ENST00000515621.1:c.289G>A
hgvsp: ENSP00000421588.1:p.Val97Ile
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356958
ensembl transcript: ENST00000367979
gene symbol: NR1I3
hgvsc: ENST00000367979.2:c.514G>A
hgvsp: ENSP00000356958.2:p.Val172Ile
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 5224
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2327
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 777
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1536
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5169
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2738
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3214
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5846
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4174
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6114
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4711
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5851
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2422
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5055
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4393
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1274
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2889
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1259
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2023
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7851
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2198
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40781
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2397
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.766e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.41e-1

QD
type: SiteQuality
SIO_000300: 1.259e1

DP
type: SiteQuality
SIO_000300: 3.29196e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423666
ensembl transcript: ENST00000508740
gene symbol: NR1I3
hgvsc: ENST00000508740.1:c.416T>C
hgvsp: ENSP00000423666.1:p.Met139Thr
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356959
ensembl transcript: ENST00000367980
gene symbol: NR1I3
hgvsc: ENST00000367980.2:c.503T>C
hgvsp: ENSP00000356959.2:p.Met168Thr
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000503547
gene symbol: NR1I3
hgvsc: ENST00000503547.1:n.276T>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356963
ensembl transcript: ENST00000367984
gene symbol: NR1I3
hgvsc: ENST00000367984.4:c.503T>C
hgvsp: ENSP00000356963.4:p.Met168Thr
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000407446
ensembl transcript: ENST00000437437
gene symbol: NR1I3
hgvsc: ENST00000437437.2:c.416T>C
hgvsp: ENSP00000407446.2:p.Met139Thr
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1378T>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423007
ensembl transcript: ENST00000512340
gene symbol: NR1I3
hgvsc: ENST00000512340.1:c.246T>C
hgvsp: ENST00000512340.1:c.246T>C(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356962
ensembl transcript: ENST00000367983
gene symbol: NR1I3
hgvsc: ENST00000367983.4:c.503T>C
hgvsp: ENSP00000356962.4:p.Met168Thr
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000505944
gene symbol: NR1I3
hgvsc: ENST00000505944.1:n.276T>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425607
ensembl transcript: ENST00000510951
gene symbol: NR1I3
hgvsc: ENST00000510951.1:c.246T>C
hgvsp: ENST00000510951.1:c.246T>C(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356965
ensembl transcript: ENST00000367985
gene symbol: NR1I3
hgvsc: ENST00000367985.3:c.503T>C
hgvsp: ENSP00000356965.3:p.Met168Thr
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000422982
ensembl transcript: ENST00000508387
gene symbol: NR1I3
hgvsc: ENST00000508387.1:c.152-1378T>C
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2327
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4175
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4394
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5850
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1129
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5225
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2738
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 4713
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6114
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5052
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5844
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5169
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 777
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1536
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2426
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3215
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2896
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1258
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2398
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40779
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7855
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2198
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993586862057598e-5
allele num: 66738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.227e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.152e0

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-1

DP
type: SiteQuality
SIO_000300: 3.292178e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.096e0

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426016
ensembl transcript: ENST00000502848
gene symbol: NR1I3
hgvsc: ENST00000502848.1:c.329T>G
hgvsp: ENSP00000426016.1:p.Phe110Cys
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424345
ensembl transcript: ENST00000504010
gene symbol: NR1I3
hgvsc: ENST00000504010.1:c.412T>G
hgvsp: ENSP00000424345.1:p.Phe138Val
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426292
ensembl transcript: ENST00000511944
gene symbol: NR1I3
hgvsc: ENST00000511944.1:c.239-1382T>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000412672
ensembl transcript: ENST00000428574
gene symbol: NR1I3
hgvsc: ENST00000428574.2:c.499T>G
hgvsp: ENSP00000412672.2:p.Phe167Val
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000399361
ensembl transcript: ENST00000412844
gene symbol: NR1I3
hgvsc: ENST00000412844.2:c.412T>G
hgvsp: ENSP00000399361.2:p.Phe138Val
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356962
ensembl transcript: ENST00000367983
gene symbol: NR1I3
hgvsc: ENST00000367983.4:c.499T>G
hgvsp: ENSP00000356962.4:p.Phe167Val
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000503547
gene symbol: NR1I3
hgvsc: ENST00000503547.1:n.272T>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356959
ensembl transcript: ENST00000367980
gene symbol: NR1I3
hgvsc: ENST00000367980.2:c.499T>G
hgvsp: ENSP00000356959.2:p.Phe167Val
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423666
ensembl transcript: ENST00000508740
gene symbol: NR1I3
hgvsc: ENST00000508740.1:c.412T>G
hgvsp: ENSP00000423666.1:p.Phe138Val
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000406493
ensembl transcript: ENST00000442691
gene symbol: NR1I3
hgvsc: ENST00000442691.2:c.499T>G
hgvsp: ENSP00000406493.2:p.Phe167Val
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423007
ensembl transcript: ENST00000512340
gene symbol: NR1I3
hgvsc: ENST00000512340.1:c.242T>G
hgvsp: ENSP00000423007.1:p.Phe81Cys
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425607
ensembl transcript: ENST00000510951
gene symbol: NR1I3
hgvsc: ENST00000510951.1:c.242T>G
hgvsp: ENSP00000425607.1:p.Phe81Cys
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 5056
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4174
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2428
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1129
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5226
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3214
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6114
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5844
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4394
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2326
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1536
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 777
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5853
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2735
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5169
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4712
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7860
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2897
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2196
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1274
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2021
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40776
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e0

VQSLOD
type: SiteQuality
SIO_000300: 9.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

FS
type: SiteQuality
SIO_000300: 8.75e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

MQRankSum
type: SiteQuality
SIO_000300: 5.07e-1

DP
type: SiteQuality
SIO_000300: 3.291793e6

QD
type: SiteQuality
SIO_000300: 1.32e1

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426016
ensembl transcript: ENST00000502848
gene symbol: NR1I3
hgvsc: ENST00000502848.1:c.327C>T
hgvsp: ENST00000502848.1:c.327C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424345
ensembl transcript: ENST00000504010
gene symbol: NR1I3
hgvsc: ENST00000504010.1:c.410C>T
hgvsp: ENSP00000424345.1:p.Thr137Ile
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000422982
ensembl transcript: ENST00000508387
gene symbol: NR1I3
hgvsc: ENST00000508387.1:c.152-1384C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425607
ensembl transcript: ENST00000510951
gene symbol: NR1I3
hgvsc: ENST00000510951.1:c.240C>T
hgvsp: ENST00000510951.1:c.240C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000488651
gene symbol: NR1I3
hgvsc: ENST00000488651.1:n.5C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425900
ensembl transcript: ENST00000507215
gene symbol: NR1I3
hgvsc: ENST00000507215.1:c.240C>T
hgvsp: ENST00000507215.1:c.240C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421374
ensembl transcript: ENST00000502985
gene symbol: NR1I3
hgvsc: ENST00000502985.1:c.239-1384C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426292
ensembl transcript: ENST00000511944
gene symbol: NR1I3
hgvsc: ENST00000511944.1:c.239-1384C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423666
ensembl transcript: ENST00000508740
gene symbol: NR1I3
hgvsc: ENST00000508740.1:c.410C>T
hgvsp: ENSP00000423666.1:p.Thr137Ile
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000505944
gene symbol: NR1I3
hgvsc: ENST00000505944.1:n.270C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425417
ensembl transcript: ENST00000512372
gene symbol: NR1I3
hgvsc: ENST00000512372.1:c.410C>T
hgvsp: ENSP00000425417.1:p.Thr137Ile
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423089
ensembl transcript: ENST00000506209
gene symbol: NR1I3
hgvsc: ENST00000506209.1:c.410C>T
hgvsp: ENSP00000423089.1:p.Thr137Ile
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 1129
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1535
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 777
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2428
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5226
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5169
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5844
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6114
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4713
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3214
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2735
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5056
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2326
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5853
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4394
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4175
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7858
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40776
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2898
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1274
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2196
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2021
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.29175e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.175e1

VQSLOD
type: SiteQuality
SIO_000300: 8.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

FS
type: SiteQuality
SIO_000300: 7.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000505944
gene symbol: NR1I3
hgvsc: ENST00000505944.1:n.262C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421374
ensembl transcript: ENST00000502985
gene symbol: NR1I3
hgvsc: ENST00000502985.1:c.239-1392C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427175
ensembl transcript: ENST00000511676
gene symbol: NR1I3
hgvsc: ENST00000511676.1:c.402C>T
hgvsp: ENST00000511676.1:c.402C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000407446
ensembl transcript: ENST00000437437
gene symbol: NR1I3
hgvsc: ENST00000437437.2:c.402C>T
hgvsp: ENST00000437437.2:c.402C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000399361
ensembl transcript: ENST00000412844
gene symbol: NR1I3
hgvsc: ENST00000412844.2:c.402C>T
hgvsp: ENST00000412844.2:c.402C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356958
ensembl transcript: ENST00000367979
gene symbol: NR1I3
hgvsc: ENST00000367979.2:c.489C>T
hgvsp: ENST00000367979.2:c.489C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000412672
ensembl transcript: ENST00000428574
gene symbol: NR1I3
hgvsc: ENST00000428574.2:c.489C>T
hgvsp: ENST00000428574.2:c.489C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356959
ensembl transcript: ENST00000367980
gene symbol: NR1I3
hgvsc: ENST00000367980.2:c.489C>T
hgvsp: ENST00000367980.2:c.489C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426292
ensembl transcript: ENST00000511944
gene symbol: NR1I3
hgvsc: ENST00000511944.1:c.239-1392C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1392C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356965
ensembl transcript: ENST00000367985
gene symbol: NR1I3
hgvsc: ENST00000367985.3:c.489C>T
hgvsp: ENST00000367985.3:c.489C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 4394
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4713
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3214
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6115
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2418
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4175
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5226
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2325
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5169
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5853
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5844
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 777
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2735
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1535
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5061
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7853
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2897
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40776
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2194
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.291757e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.092e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

QD
type: SiteQuality
SIO_000300: 1.192e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000422982
ensembl transcript: ENST00000508387
gene symbol: NR1I3
hgvsc: ENST00000508387.1:c.152-1395A>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356959
ensembl transcript: ENST00000367980
gene symbol: NR1I3
hgvsc: ENST00000367980.2:c.486A>T
hgvsp: ENST00000367980.2:c.486A>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356961
ensembl transcript: ENST00000367982
gene symbol: NR1I3
hgvsc: ENST00000367982.4:c.486A>T
hgvsp: ENST00000367982.4:c.486A>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000412672
ensembl transcript: ENST00000428574
gene symbol: NR1I3
hgvsc: ENST00000428574.2:c.486A>T
hgvsp: ENST00000428574.2:c.486A>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000505944
gene symbol: NR1I3
hgvsc: ENST00000505944.1:n.259A>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426292
ensembl transcript: ENST00000511944
gene symbol: NR1I3
hgvsc: ENST00000511944.1:c.239-1395A>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424934
ensembl transcript: ENST00000505005
gene symbol: NR1I3
hgvsc: ENST00000505005.1:c.486A>T
hgvsp: ENST00000505005.1:c.486A>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000503547
gene symbol: NR1I3
hgvsc: ENST00000503547.1:n.259A>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427034
ensembl transcript: ENST00000515452
gene symbol: NR1I3
hgvsc: ENST00000515452.1:c.486A>T
hgvsp: ENST00000515452.1:c.486A>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356963
ensembl transcript: ENST00000367984
gene symbol: NR1I3
hgvsc: ENST00000367984.4:c.486A>T
hgvsp: ENST00000367984.4:c.486A>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427175
ensembl transcript: ENST00000511676
gene symbol: NR1I3
hgvsc: ENST00000511676.1:c.399A>T
hgvsp: ENST00000511676.1:c.399A>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 3214
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5168
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4712
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1535
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2418
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4395
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2323
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5845
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6115
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5226
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5061
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2735
bin: 9.75e1
variant carriers: 12

GenotypeDepth
all individuals: 4175
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1129
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5853
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 778
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1275
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7852
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2193
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2898
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40775
bin: 9.75e1
variant carriers: 14

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993586862057598e-5
allele num: 66738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.559721802237678e-4
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.622140050843541e-4
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.255e1

DP
type: SiteQuality
SIO_000300: 3.292158e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.47e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000503547
gene symbol: NR1I3
hgvsc: ENST00000503547.1:n.259A>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356958
ensembl transcript: ENST00000367979
gene symbol: NR1I3
hgvsc: ENST00000367979.2:c.486A>C
hgvsp: ENST00000367979.2:c.486A>C(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1395A>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356959
ensembl transcript: ENST00000367980
gene symbol: NR1I3
hgvsc: ENST00000367980.2:c.486A>C
hgvsp: ENST00000367980.2:c.486A>C(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000412672
ensembl transcript: ENST00000428574
gene symbol: NR1I3
hgvsc: ENST00000428574.2:c.486A>C
hgvsp: ENST00000428574.2:c.486A>C(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425417
ensembl transcript: ENST00000512372
gene symbol: NR1I3
hgvsc: ENST00000512372.1:c.399A>C
hgvsp: ENST00000512372.1:c.399A>C(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000399361
ensembl transcript: ENST00000412844
gene symbol: NR1I3
hgvsc: ENST00000412844.2:c.399A>C
hgvsp: ENST00000412844.2:c.399A>C(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424834
ensembl transcript: ENST00000506018
gene symbol: NR1I3
hgvsc: ENST00000506018.1:c.399A>C
hgvsp: ENST00000506018.1:c.399A>C(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356961
ensembl transcript: ENST00000367982
gene symbol: NR1I3
hgvsc: ENST00000367982.4:c.486A>C
hgvsp: ENST00000367982.4:c.486A>C(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426292
ensembl transcript: ENST00000511944
gene symbol: NR1I3
hgvsc: ENST00000511944.1:c.239-1395A>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421588
ensembl transcript: ENST00000515621
gene symbol: NR1I3
hgvsc: ENST00000515621.1:c.261A>C
hgvsp: ENST00000515621.1:c.261A>C(p.%3D)
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2418
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 778
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5853
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4712
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5061
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1129
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2323
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4395
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5845
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3214
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2735
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5168
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5226
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6115
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4175
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1535
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40775
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7852
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2193
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2898
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1275
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

FS
type: SiteQuality
SIO_000300: 5.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.47e-1

DP
type: SiteQuality
SIO_000300: 3.292158e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.255e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356962
ensembl transcript: ENST00000367983
gene symbol: NR1I3
hgvsc: ENST00000367983.4:c.484G>A
hgvsp: ENSP00000356962.4:p.Ala162Thr
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421374
ensembl transcript: ENST00000502985
gene symbol: NR1I3
hgvsc: ENST00000502985.1:c.239-1397G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000422982
ensembl transcript: ENST00000508387
gene symbol: NR1I3
hgvsc: ENST00000508387.1:c.152-1397G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425417
ensembl transcript: ENST00000512372
gene symbol: NR1I3
hgvsc: ENST00000512372.1:c.397G>A
hgvsp: ENSP00000425417.1:p.Ala133Thr
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426292
ensembl transcript: ENST00000511944
gene symbol: NR1I3
hgvsc: ENST00000511944.1:c.239-1397G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356961
ensembl transcript: ENST00000367982
gene symbol: NR1I3
hgvsc: ENST00000367982.4:c.484G>A
hgvsp: ENSP00000356961.4:p.Ala162Thr
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1397G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424834
ensembl transcript: ENST00000506018
gene symbol: NR1I3
hgvsc: ENST00000506018.1:c.397G>A
hgvsp: ENSP00000424834.1:p.Ala133Thr
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356958
ensembl transcript: ENST00000367979
gene symbol: NR1I3
hgvsc: ENST00000367979.2:c.484G>A
hgvsp: ENSP00000356958.2:p.Ala162Thr
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000399361
ensembl transcript: ENST00000412844
gene symbol: NR1I3
hgvsc: ENST00000412844.2:c.397G>A
hgvsp: ENSP00000399361.2:p.Ala133Thr
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000505944
gene symbol: NR1I3
hgvsc: ENST00000505944.1:n.257G>A
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 3214
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1129
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2729
bin: 9.75e1
variant carriers: 12

GenotypeDepth
all individuals: 4715
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 776
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5057
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1534
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5854
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2420
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5845
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5169
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4398
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5225
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4177
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2324
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6116
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2899
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2195
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7861
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40771
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 2399
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.34855704396296e-4
allele num: 66738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

DP
type: SiteQuality
SIO_000300: 3.291373e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-2

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.28e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000422982
ensembl transcript: ENST00000508387
gene symbol: NR1I3
hgvsc: ENST00000508387.1:c.152-1398C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356959
ensembl transcript: ENST00000367980
gene symbol: NR1I3
hgvsc: ENST00000367980.2:c.483C>T
hgvsp: ENST00000367980.2:c.483C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427034
ensembl transcript: ENST00000515452
gene symbol: NR1I3
hgvsc: ENST00000515452.1:c.483C>T
hgvsp: ENST00000515452.1:c.483C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000503547
gene symbol: NR1I3
hgvsc: ENST00000503547.1:n.256C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426292
ensembl transcript: ENST00000511944
gene symbol: NR1I3
hgvsc: ENST00000511944.1:c.239-1398C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356961
ensembl transcript: ENST00000367982
gene symbol: NR1I3
hgvsc: ENST00000367982.4:c.483C>T
hgvsp: ENST00000367982.4:c.483C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000407446
ensembl transcript: ENST00000437437
gene symbol: NR1I3
hgvsc: ENST00000437437.2:c.396C>T
hgvsp: ENST00000437437.2:c.396C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423007
ensembl transcript: ENST00000512340
gene symbol: NR1I3
hgvsc: ENST00000512340.1:c.226C>T
hgvsp: ENSP00000423007.1:p.Arg76Cys
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421374
ensembl transcript: ENST00000502985
gene symbol: NR1I3
hgvsc: ENST00000502985.1:c.239-1398C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000412672
ensembl transcript: ENST00000428574
gene symbol: NR1I3
hgvsc: ENST00000428574.2:c.483C>T
hgvsp: ENST00000428574.2:c.483C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1398C>T
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3214
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5171
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5057
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5846
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2717
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5855
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2422
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4177
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6117
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4399
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1130
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4717
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 776
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1534
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2325
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5226
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7864
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1270
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2197
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2900
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40765
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2021
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2401
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.564e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.331e0

DP
type: SiteQuality
SIO_000300: 3.290165e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

QD
type: SiteQuality
SIO_000300: 9.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426292
ensembl transcript: ENST00000511944
gene symbol: NR1I3
hgvsc: ENST00000511944.1:c.239-1404A>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000407446
ensembl transcript: ENST00000437437
gene symbol: NR1I3
hgvsc: ENST00000437437.2:c.390A>T
hgvsp: ENST00000437437.2:c.390A>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425900
ensembl transcript: ENST00000507215
gene symbol: NR1I3
hgvsc: ENST00000507215.1:c.220A>T
hgvsp: ENSP00000425900.1:p.Thr74Ser
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356961
ensembl transcript: ENST00000367982
gene symbol: NR1I3
hgvsc: ENST00000367982.4:c.477A>T
hgvsp: ENST00000367982.4:c.477A>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356965
ensembl transcript: ENST00000367985
gene symbol: NR1I3
hgvsc: ENST00000367985.3:c.477A>T
hgvsp: ENST00000367985.3:c.477A>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423666
ensembl transcript: ENST00000508740
gene symbol: NR1I3
hgvsc: ENST00000508740.1:c.390A>T
hgvsp: ENST00000508740.1:c.390A>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356962
ensembl transcript: ENST00000367983
gene symbol: NR1I3
hgvsc: ENST00000367983.4:c.477A>T
hgvsp: ENST00000367983.4:c.477A>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427175
ensembl transcript: ENST00000511676
gene symbol: NR1I3
hgvsc: ENST00000511676.1:c.390A>T
hgvsp: ENST00000511676.1:c.390A>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000412672
ensembl transcript: ENST00000428574
gene symbol: NR1I3
hgvsc: ENST00000428574.2:c.477A>T
hgvsp: ENST00000428574.2:c.477A>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000503547
gene symbol: NR1I3
hgvsc: ENST00000503547.1:n.250A>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000505944
gene symbol: NR1I3
hgvsc: ENST00000505944.1:n.250A>T
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 4177
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5226
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5846
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5171
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5854
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3214
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4716
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1130
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5059
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6117
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2717
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1534
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2325
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2423
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4399
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 777
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2021
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40765
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1270
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7864
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2198
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2899
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e0

FS
type: SiteQuality
SIO_000300: 4.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.09e-1

QD
type: SiteQuality
SIO_000300: 1.252e1

VQSLOD
type: SiteQuality
SIO_000300: 6.05e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.06e-1

DP
type: SiteQuality
SIO_000300: 3.290105e6

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000399361
ensembl transcript: ENST00000412844
gene symbol: NR1I3
hgvsc: ENST00000412844.2:c.390A>G
hgvsp: ENST00000412844.2:c.390A>G(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424934
ensembl transcript: ENST00000505005
gene symbol: NR1I3
hgvsc: ENST00000505005.1:c.477A>G
hgvsp: ENST00000505005.1:c.477A>G(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356959
ensembl transcript: ENST00000367980
gene symbol: NR1I3
hgvsc: ENST00000367980.2:c.477A>G
hgvsp: ENST00000367980.2:c.477A>G(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000407446
ensembl transcript: ENST00000437437
gene symbol: NR1I3
hgvsc: ENST00000437437.2:c.390A>G
hgvsp: ENST00000437437.2:c.390A>G(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356965
ensembl transcript: ENST00000367985
gene symbol: NR1I3
hgvsc: ENST00000367985.3:c.477A>G
hgvsp: ENST00000367985.3:c.477A>G(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421374
ensembl transcript: ENST00000502985
gene symbol: NR1I3
hgvsc: ENST00000502985.1:c.239-1404A>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1404A>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356958
ensembl transcript: ENST00000367979
gene symbol: NR1I3
hgvsc: ENST00000367979.2:c.477A>G
hgvsp: ENST00000367979.2:c.477A>G(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426292
ensembl transcript: ENST00000511944
gene symbol: NR1I3
hgvsc: ENST00000511944.1:c.239-1404A>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424345
ensembl transcript: ENST00000504010
gene symbol: NR1I3
hgvsc: ENST00000504010.1:c.390A>G
hgvsp: ENST00000504010.1:c.390A>G(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000503547
gene symbol: NR1I3
hgvsc: ENST00000503547.1:n.250A>G
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 6117
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5171
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3214
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1130
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4716
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5854
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4177
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2423
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5059
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2717
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4399
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5846
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2325
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5226
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1534
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 777
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2899
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2198
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7864
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1270
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2021
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40765
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.252e1

DP
type: SiteQuality
SIO_000300: 3.290105e6

MQRankSum
type: SiteQuality
SIO_000300: 6.06e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 6.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

FS
type: SiteQuality
SIO_000300: 4.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423089
ensembl transcript: ENST00000506209
gene symbol: NR1I3
hgvsc: ENST00000506209.1:c.381T>C
hgvsp: ENST00000506209.1:c.381T>C(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427034
ensembl transcript: ENST00000515452
gene symbol: NR1I3
hgvsc: ENST00000515452.1:c.468T>C
hgvsp: ENST00000515452.1:c.468T>C(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000407446
ensembl transcript: ENST00000437437
gene symbol: NR1I3
hgvsc: ENST00000437437.2:c.381T>C
hgvsp: ENST00000437437.2:c.381T>C(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426292
ensembl transcript: ENST00000511944
gene symbol: NR1I3
hgvsc: ENST00000511944.1:c.239-1413T>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000422982
ensembl transcript: ENST00000508387
gene symbol: NR1I3
hgvsc: ENST00000508387.1:c.152-1413T>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356961
ensembl transcript: ENST00000367982
gene symbol: NR1I3
hgvsc: ENST00000367982.4:c.468T>C
hgvsp: ENST00000367982.4:c.468T>C(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356960
ensembl transcript: ENST00000367981
gene symbol: NR1I3
hgvsc: ENST00000367981.3:c.381T>C
hgvsp: ENST00000367981.3:c.381T>C(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427175
ensembl transcript: ENST00000511676
gene symbol: NR1I3
hgvsc: ENST00000511676.1:c.381T>C
hgvsp: ENST00000511676.1:c.381T>C(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1413T>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000399361
ensembl transcript: ENST00000412844
gene symbol: NR1I3
hgvsc: ENST00000412844.2:c.381T>C
hgvsp: ENST00000412844.2:c.381T>C(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000406493
ensembl transcript: ENST00000442691
gene symbol: NR1I3
hgvsc: ENST00000442691.2:c.468T>C
hgvsp: ENST00000442691.2:c.468T>C(p.%3D)
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 5225
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2325
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4719
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1535
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 776
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4177
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5846
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1130
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4400
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5058
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3214
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5172
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5855
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2716
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2425
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6116
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2199
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2899
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40764
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1273
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7866
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2022
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.290034e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.99e-1

QD
type: SiteQuality
SIO_000300: 1.063e1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

VQSLOD
type: SiteQuality
SIO_000300: -3.502e-1

FS
type: SiteQuality
SIO_000300: 8.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.993e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356965
ensembl transcript: ENST00000367985
gene symbol: NR1I3
hgvsc: ENST00000367985.3:c.459T>A
hgvsp: ENST00000367985.3:c.459T>A(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426292
ensembl transcript: ENST00000511944
gene symbol: NR1I3
hgvsc: ENST00000511944.1:c.239-1422T>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000503547
gene symbol: NR1I3
hgvsc: ENST00000503547.1:n.232T>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1422T>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000399361
ensembl transcript: ENST00000412844
gene symbol: NR1I3
hgvsc: ENST00000412844.2:c.372T>A
hgvsp: ENST00000412844.2:c.372T>A(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356959
ensembl transcript: ENST00000367980
gene symbol: NR1I3
hgvsc: ENST00000367980.2:c.459T>A
hgvsp: ENST00000367980.2:c.459T>A(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000505944
gene symbol: NR1I3
hgvsc: ENST00000505944.1:n.232T>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424834
ensembl transcript: ENST00000506018
gene symbol: NR1I3
hgvsc: ENST00000506018.1:c.372T>A
hgvsp: ENST00000506018.1:c.372T>A(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000407446
ensembl transcript: ENST00000437437
gene symbol: NR1I3
hgvsc: ENST00000437437.2:c.372T>A
hgvsp: ENST00000437437.2:c.372T>A(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356960
ensembl transcript: ENST00000367981
gene symbol: NR1I3
hgvsc: ENST00000367981.3:c.372T>A
hgvsp: ENST00000367981.3:c.372T>A(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356961
ensembl transcript: ENST00000367982
gene symbol: NR1I3
hgvsc: ENST00000367982.4:c.459T>A
hgvsp: ENST00000367982.4:c.459T>A(p.%3D)
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2418
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3214
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4177
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5855
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5846
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5067
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4401
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 776
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5171
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1130
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4718
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5224
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1534
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2325
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6116
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2716
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2198
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1271
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7862
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40763
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2022
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2899
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.334e1

FS
type: SiteQuality
SIO_000300: 1.327e0

DP
type: SiteQuality
SIO_000300: 3.290059e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356959
ensembl transcript: ENST00000367980
gene symbol: NR1I3
hgvsc: ENST00000367980.2:c.455C>T
hgvsp: ENSP00000356959.2:p.Ala152Val
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000406493
ensembl transcript: ENST00000442691
gene symbol: NR1I3
hgvsc: ENST00000442691.2:c.455C>T
hgvsp: ENSP00000406493.2:p.Ala152Val
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356962
ensembl transcript: ENST00000367983
gene symbol: NR1I3
hgvsc: ENST00000367983.4:c.455C>T
hgvsp: ENSP00000356962.4:p.Ala152Val
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356965
ensembl transcript: ENST00000367985
gene symbol: NR1I3
hgvsc: ENST00000367985.3:c.455C>T
hgvsp: ENSP00000356965.3:p.Ala152Val
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427175
ensembl transcript: ENST00000511676
gene symbol: NR1I3
hgvsc: ENST00000511676.1:c.368C>T
hgvsp: ENSP00000427175.1:p.Ala123Val
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000407446
ensembl transcript: ENST00000437437
gene symbol: NR1I3
hgvsc: ENST00000437437.2:c.368C>T
hgvsp: ENSP00000407446.2:p.Ala123Val
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421588
ensembl transcript: ENST00000515621
gene symbol: NR1I3
hgvsc: ENST00000515621.1:c.230C>T
hgvsp: ENSP00000421588.1:p.Ala77Val
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426016
ensembl transcript: ENST00000502848
gene symbol: NR1I3
hgvsc: ENST00000502848.1:c.285C>T
hgvsp: ENST00000502848.1:c.285C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421374
ensembl transcript: ENST00000502985
gene symbol: NR1I3
hgvsc: ENST00000502985.1:c.239-1426C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000399361
ensembl transcript: ENST00000412844
gene symbol: NR1I3
hgvsc: ENST00000412844.2:c.368C>T
hgvsp: ENSP00000399361.2:p.Ala123Val
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425607
ensembl transcript: ENST00000510951
gene symbol: NR1I3
hgvsc: ENST00000510951.1:c.198C>T
hgvsp: ENST00000510951.1:c.198C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 2716
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2411
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 776
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5069
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3214
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2325
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5846
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4401
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6116
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1534
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4718
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1130
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5854
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5172
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4177
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5224
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2899
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2021
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2197
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40763
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1270
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7852
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

QD
type: SiteQuality
SIO_000300: 1.538e1

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.161e0

FS
type: SiteQuality
SIO_000300: 1.309e0

DP
type: SiteQuality
SIO_000300: 3.289839e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000406493
ensembl transcript: ENST00000442691
gene symbol: NR1I3
hgvsc: ENST00000442691.2:c.452T>C
hgvsp: ENSP00000406493.2:p.Leu151Pro
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356959
ensembl transcript: ENST00000367980
gene symbol: NR1I3
hgvsc: ENST00000367980.2:c.452T>C
hgvsp: ENSP00000356959.2:p.Leu151Pro
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426292
ensembl transcript: ENST00000511944
gene symbol: NR1I3
hgvsc: ENST00000511944.1:c.239-1429T>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356962
ensembl transcript: ENST00000367983
gene symbol: NR1I3
hgvsc: ENST00000367983.4:c.452T>C
hgvsp: ENSP00000356962.4:p.Leu151Pro
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000412672
ensembl transcript: ENST00000428574
gene symbol: NR1I3
hgvsc: ENST00000428574.2:c.452T>C
hgvsp: ENSP00000412672.2:p.Leu151Pro
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425900
ensembl transcript: ENST00000507215
gene symbol: NR1I3
hgvsc: ENST00000507215.1:c.195T>C
hgvsp: ENST00000507215.1:c.195T>C(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356958
ensembl transcript: ENST00000367979
gene symbol: NR1I3
hgvsc: ENST00000367979.2:c.452T>C
hgvsp: ENSP00000356958.2:p.Leu151Pro
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426016
ensembl transcript: ENST00000502848
gene symbol: NR1I3
hgvsc: ENST00000502848.1:c.282T>C
hgvsp: ENST00000502848.1:c.282T>C(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424934
ensembl transcript: ENST00000505005
gene symbol: NR1I3
hgvsc: ENST00000505005.1:c.452T>C
hgvsp: ENSP00000424934.1:p.Leu151Pro
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000407446
ensembl transcript: ENST00000437437
gene symbol: NR1I3
hgvsc: ENST00000437437.2:c.365T>C
hgvsp: ENSP00000407446.2:p.Leu122Pro
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425607
ensembl transcript: ENST00000510951
gene symbol: NR1I3
hgvsc: ENST00000510951.1:c.195T>C
hgvsp: ENST00000510951.1:c.195T>C(p.%3D)
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 1131
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4400
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5846
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2408
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5224
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5067
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6116
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4177
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4720
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5854
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2325
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2716
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5171
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3214
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1534
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 776
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1270
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40763
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2021
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7844
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2199
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2895
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 3.289851e6

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 1.894e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e-1

QD
type: SiteQuality
SIO_000300: 1.379e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000503547
gene symbol: NR1I3
hgvsc: ENST00000503547.1:n.217G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426292
ensembl transcript: ENST00000511944
gene symbol: NR1I3
hgvsc: ENST00000511944.1:c.239-1437G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356958
ensembl transcript: ENST00000367979
gene symbol: NR1I3
hgvsc: ENST00000367979.2:c.444G>A
hgvsp: ENST00000367979.2:c.444G>A(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424934
ensembl transcript: ENST00000505005
gene symbol: NR1I3
hgvsc: ENST00000505005.1:c.444G>A
hgvsp: ENST00000505005.1:c.444G>A(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423089
ensembl transcript: ENST00000506209
gene symbol: NR1I3
hgvsc: ENST00000506209.1:c.357G>A
hgvsp: ENST00000506209.1:c.357G>A(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356965
ensembl transcript: ENST00000367985
gene symbol: NR1I3
hgvsc: ENST00000367985.3:c.444G>A
hgvsp: ENST00000367985.3:c.444G>A(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421374
ensembl transcript: ENST00000502985
gene symbol: NR1I3
hgvsc: ENST00000502985.1:c.239-1437G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000422982
ensembl transcript: ENST00000508387
gene symbol: NR1I3
hgvsc: ENST00000508387.1:c.152-1437G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000406493
ensembl transcript: ENST00000442691
gene symbol: NR1I3
hgvsc: ENST00000442691.2:c.444G>A
hgvsp: ENST00000442691.2:c.444G>A(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356962
ensembl transcript: ENST00000367983
gene symbol: NR1I3
hgvsc: ENST00000367983.4:c.444G>A
hgvsp: ENST00000367983.4:c.444G>A(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1437G>A
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4401
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4714
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2325
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3214
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6116
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1534
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5846
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5068
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4177
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2415
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5225
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5171
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 776
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2716
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1130
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5854
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40762
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7860
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1271
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2898
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2200
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.289794e6

FS
type: SiteQuality
SIO_000300: 9.353999999999999e0

QD
type: SiteQuality
SIO_000300: 1.117e1

VQSLOD
type: SiteQuality
SIO_000300: -1.417e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: -9.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.175e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427034
ensembl transcript: ENST00000515452
gene symbol: NR1I3
hgvsc: ENST00000515452.1:c.440C>G
hgvsp: ENSP00000427034.1:p.Pro147Arg
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423666
ensembl transcript: ENST00000508740
gene symbol: NR1I3
hgvsc: ENST00000508740.1:c.353C>G
hgvsp: ENSP00000423666.1:p.Pro118Arg
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000406493
ensembl transcript: ENST00000442691
gene symbol: NR1I3
hgvsc: ENST00000442691.2:c.440C>G
hgvsp: ENSP00000406493.2:p.Pro147Arg
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421374
ensembl transcript: ENST00000502985
gene symbol: NR1I3
hgvsc: ENST00000502985.1:c.239-1441C>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426016
ensembl transcript: ENST00000502848
gene symbol: NR1I3
hgvsc: ENST00000502848.1:c.270C>G
hgvsp: ENST00000502848.1:c.270C>G(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1441C>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423007
ensembl transcript: ENST00000512340
gene symbol: NR1I3
hgvsc: ENST00000512340.1:c.183C>G
hgvsp: ENST00000512340.1:c.183C>G(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424345
ensembl transcript: ENST00000504010
gene symbol: NR1I3
hgvsc: ENST00000504010.1:c.353C>G
hgvsp: ENSP00000424345.1:p.Pro118Arg
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356960
ensembl transcript: ENST00000367981
gene symbol: NR1I3
hgvsc: ENST00000367981.3:c.353C>G
hgvsp: ENSP00000356960.3:p.Pro118Arg
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425607
ensembl transcript: ENST00000510951
gene symbol: NR1I3
hgvsc: ENST00000510951.1:c.183C>G
hgvsp: ENST00000510951.1:c.183C>G(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427175
ensembl transcript: ENST00000511676
gene symbol: NR1I3
hgvsc: ENST00000511676.1:c.353C>G
hgvsp: ENSP00000427175.1:p.Pro118Arg
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 4402
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2324
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2414
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1130
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 776
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5847
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5225
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4177
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5061
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4711
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5853
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5171
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6117
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1534
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2716
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 3214
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40762
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2201
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2896
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1271
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2018
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7850
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.882952142994427e-4
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.659999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

MQRankSum
type: SiteQuality
SIO_000300: 6.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.628e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.98e-1

DP
type: SiteQuality
SIO_000300: 3.289607e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-2

QD
type: SiteQuality
SIO_000300: 1.277e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421374
ensembl transcript: ENST00000502985
gene symbol: NR1I3
hgvsc: ENST00000502985.1:c.239-1450A>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000505944
gene symbol: NR1I3
hgvsc: ENST00000505944.1:n.204A>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423666
ensembl transcript: ENST00000508740
gene symbol: NR1I3
hgvsc: ENST00000508740.1:c.344A>G
hgvsp: ENSP00000423666.1:p.His115Arg
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000399361
ensembl transcript: ENST00000412844
gene symbol: NR1I3
hgvsc: ENST00000412844.2:c.344A>G
hgvsp: ENSP00000399361.2:p.His115Arg
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000422982
ensembl transcript: ENST00000508387
gene symbol: NR1I3
hgvsc: ENST00000508387.1:c.152-1450A>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356965
ensembl transcript: ENST00000367985
gene symbol: NR1I3
hgvsc: ENST00000367985.3:c.431A>G
hgvsp: ENSP00000356965.3:p.His144Arg
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426016
ensembl transcript: ENST00000502848
gene symbol: NR1I3
hgvsc: ENST00000502848.1:c.261A>G
hgvsp: ENST00000502848.1:c.261A>G(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000503547
gene symbol: NR1I3
hgvsc: ENST00000503547.1:n.204A>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427175
ensembl transcript: ENST00000511676
gene symbol: NR1I3
hgvsc: ENST00000511676.1:c.344A>G
hgvsp: ENSP00000427175.1:p.His115Arg
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425900
ensembl transcript: ENST00000507215
gene symbol: NR1I3
hgvsc: ENST00000507215.1:c.174A>G
hgvsp: ENST00000507215.1:c.174A>G(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427034
ensembl transcript: ENST00000515452
gene symbol: NR1I3
hgvsc: ENST00000515452.1:c.431A>G
hgvsp: ENSP00000427034.1:p.His144Arg
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 1534
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5172
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5854
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2411
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4399
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5061
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1130
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5847
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4177
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5224
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4713
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2714
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 776
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3214
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6116
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2324
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7845
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2014
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40761
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2888
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2203
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.82e-1

DP
type: SiteQuality
SIO_000300: 3.289235e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

FS
type: SiteQuality
SIO_000300: 7.259e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.721e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.44e-1

QD
type: SiteQuality
SIO_000300: 1.172e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423089
ensembl transcript: ENST00000506209
gene symbol: NR1I3
hgvsc: ENST00000506209.1:c.342C>G
hgvsp: ENSP00000423089.1:p.Ile114Met
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1452C>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424345
ensembl transcript: ENST00000504010
gene symbol: NR1I3
hgvsc: ENST00000504010.1:c.342C>G
hgvsp: ENSP00000424345.1:p.Ile114Met
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000422982
ensembl transcript: ENST00000508387
gene symbol: NR1I3
hgvsc: ENST00000508387.1:c.152-1452C>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356963
ensembl transcript: ENST00000367984
gene symbol: NR1I3
hgvsc: ENST00000367984.4:c.429C>G
hgvsp: ENSP00000356963.4:p.Ile143Met
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425607
ensembl transcript: ENST00000510951
gene symbol: NR1I3
hgvsc: ENST00000510951.1:c.172C>G
hgvsp: ENSP00000425607.1:p.Pro58Ala
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356959
ensembl transcript: ENST00000367980
gene symbol: NR1I3
hgvsc: ENST00000367980.2:c.429C>G
hgvsp: ENSP00000356959.2:p.Ile143Met
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425900
ensembl transcript: ENST00000507215
gene symbol: NR1I3
hgvsc: ENST00000507215.1:c.172C>G
hgvsp: ENSP00000425900.1:p.Pro58Ala
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000399361
ensembl transcript: ENST00000412844
gene symbol: NR1I3
hgvsc: ENST00000412844.2:c.342C>G
hgvsp: ENSP00000399361.2:p.Ile114Met
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356965
ensembl transcript: ENST00000367985
gene symbol: NR1I3
hgvsc: ENST00000367985.3:c.429C>G
hgvsp: ENSP00000356965.3:p.Ile143Met
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000503547
gene symbol: NR1I3
hgvsc: ENST00000503547.1:n.202C>G
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 5847
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5064
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4711
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 776
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3214
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2401
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1534
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2714
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4400
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5223
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5853
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6116
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2324
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4177
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5172
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40760
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2886
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2012
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2202
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1275
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7820
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.64e-1

DP
type: SiteQuality
SIO_000300: 3.289079e6

VQSLOD
type: SiteQuality
SIO_000300: -1.076e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 5.875e1

QD
type: SiteQuality
SIO_000300: 1.539e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.794e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356961
ensembl transcript: ENST00000367982
gene symbol: NR1I3
hgvsc: ENST00000367982.4:c.426C>T
hgvsp: ENST00000367982.4:c.426C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423089
ensembl transcript: ENST00000506209
gene symbol: NR1I3
hgvsc: ENST00000506209.1:c.339C>T
hgvsp: ENST00000506209.1:c.339C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424345
ensembl transcript: ENST00000504010
gene symbol: NR1I3
hgvsc: ENST00000504010.1:c.339C>T
hgvsp: ENST00000504010.1:c.339C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424934
ensembl transcript: ENST00000505005
gene symbol: NR1I3
hgvsc: ENST00000505005.1:c.426C>T
hgvsp: ENST00000505005.1:c.426C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421374
ensembl transcript: ENST00000502985
gene symbol: NR1I3
hgvsc: ENST00000502985.1:c.239-1455C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427034
ensembl transcript: ENST00000515452
gene symbol: NR1I3
hgvsc: ENST00000515452.1:c.426C>T
hgvsp: ENST00000515452.1:c.426C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000422982
ensembl transcript: ENST00000508387
gene symbol: NR1I3
hgvsc: ENST00000508387.1:c.152-1455C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000412672
ensembl transcript: ENST00000428574
gene symbol: NR1I3
hgvsc: ENST00000428574.2:c.426C>T
hgvsp: ENST00000428574.2:c.426C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000505944
gene symbol: NR1I3
hgvsc: ENST00000505944.1:n.199C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356959
ensembl transcript: ENST00000367980
gene symbol: NR1I3
hgvsc: ENST00000367980.2:c.426C>T
hgvsp: ENST00000367980.2:c.426C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427175
ensembl transcript: ENST00000511676
gene symbol: NR1I3
hgvsc: ENST00000511676.1:c.339C>T
hgvsp: ENST00000511676.1:c.339C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4397
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5224
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2399
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5846
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2714
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 4177
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4713
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 776
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5854
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1534
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5066
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5172
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3213
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2324
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1131
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6116
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2886
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40760
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7835
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2202
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1275
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2012
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.843936190659235e-4
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.026e0

VQSLOD
type: SiteQuality
SIO_000300: 4.44e0

MQRankSum
type: SiteQuality
SIO_000300: 5.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 3.28926e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.6e-1

QD
type: SiteQuality
SIO_000300: 1.16e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000412672
ensembl transcript: ENST00000428574
gene symbol: NR1I3
hgvsc: ENST00000428574.2:c.419A>G
hgvsp: ENSP00000412672.2:p.His140Arg
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423089
ensembl transcript: ENST00000506209
gene symbol: NR1I3
hgvsc: ENST00000506209.1:c.332A>G
hgvsp: ENSP00000423089.1:p.His111Arg
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000399361
ensembl transcript: ENST00000412844
gene symbol: NR1I3
hgvsc: ENST00000412844.2:c.332A>G
hgvsp: ENSP00000399361.2:p.His111Arg
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356962
ensembl transcript: ENST00000367983
gene symbol: NR1I3
hgvsc: ENST00000367983.4:c.419A>G
hgvsp: ENSP00000356962.4:p.His140Arg
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426016
ensembl transcript: ENST00000502848
gene symbol: NR1I3
hgvsc: ENST00000502848.1:c.249A>G
hgvsp: ENST00000502848.1:c.249A>G(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425607
ensembl transcript: ENST00000510951
gene symbol: NR1I3
hgvsc: ENST00000510951.1:c.162A>G
hgvsp: ENST00000510951.1:c.162A>G(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356965
ensembl transcript: ENST00000367985
gene symbol: NR1I3
hgvsc: ENST00000367985.3:c.419A>G
hgvsp: ENSP00000356965.3:p.His140Arg
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427034
ensembl transcript: ENST00000515452
gene symbol: NR1I3
hgvsc: ENST00000515452.1:c.419A>G
hgvsp: ENSP00000427034.1:p.His140Arg
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1462A>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427175
ensembl transcript: ENST00000511676
gene symbol: NR1I3
hgvsc: ENST00000511676.1:c.332A>G
hgvsp: ENSP00000427175.1:p.His111Arg
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356963
ensembl transcript: ENST00000367984
gene symbol: NR1I3
hgvsc: ENST00000367984.4:c.419A>G
hgvsp: ENSP00000356963.4:p.His140Arg
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 5056
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5855
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5848
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6116
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1130
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5223
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3213
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4177
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5172
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2712
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2323
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 776
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1534
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4397
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4710
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2398
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7813
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2206
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40759
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2011
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2885
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.231e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.343e0

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

VQSLOD
type: SiteQuality
SIO_000300: -5.875e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.41e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 3.47e0

DP
type: SiteQuality
SIO_000300: 3.28863e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000407446
ensembl transcript: ENST00000437437
gene symbol: NR1I3
hgvsc: ENST00000437437.2:c.322-31G>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427175
ensembl transcript: ENST00000511676
gene symbol: NR1I3
hgvsc: ENST00000511676.1:c.322-31G>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356963
ensembl transcript: ENST00000367984
gene symbol: NR1I3
hgvsc: ENST00000367984.4:c.409-31G>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426292
ensembl transcript: ENST00000511944
gene symbol: NR1I3
hgvsc: ENST00000511944.1:c.239-1503G>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424934
ensembl transcript: ENST00000505005
gene symbol: NR1I3
hgvsc: ENST00000505005.1:c.409-31G>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423007
ensembl transcript: ENST00000512340
gene symbol: NR1I3
hgvsc: ENST00000512340.1:c.152-31G>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424834
ensembl transcript: ENST00000506018
gene symbol: NR1I3
hgvsc: ENST00000506018.1:c.322-31G>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1503G>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000503547
gene symbol: NR1I3
hgvsc: ENST00000503547.1:n.182-31G>C
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 5171
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1069
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6106
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3213
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1130
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 858
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2088
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4281
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4138
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2323
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5851
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4206
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5129
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 777
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1534
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2711
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4176
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5815
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6141
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1941
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1239
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2171
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2576
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40734
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2370
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.082725060827251e-5
allele num: 16440
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

QD
type: SiteQuality
SIO_000300: 1.442e1

DP
type: SiteQuality
SIO_000300: 3.257778e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423089
ensembl transcript: ENST00000506209
gene symbol: NR1I3
hgvsc: ENST00000506209.1:c.322-39T>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000412672
ensembl transcript: ENST00000428574
gene symbol: NR1I3
hgvsc: ENST00000428574.2:c.409-39T>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000407446
ensembl transcript: ENST00000437437
gene symbol: NR1I3
hgvsc: ENST00000437437.2:c.322-39T>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427175
ensembl transcript: ENST00000511676
gene symbol: NR1I3
hgvsc: ENST00000511676.1:c.322-39T>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424934
ensembl transcript: ENST00000505005
gene symbol: NR1I3
hgvsc: ENST00000505005.1:c.409-39T>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1511T>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427034
ensembl transcript: ENST00000515452
gene symbol: NR1I3
hgvsc: ENST00000515452.1:c.409-39T>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000399361
ensembl transcript: ENST00000412844
gene symbol: NR1I3
hgvsc: ENST00000412844.2:c.322-39T>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421588
ensembl transcript: ENST00000515621
gene symbol: NR1I3
hgvsc: ENST00000515621.1:c.184-39T>C
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 2260
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5796
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2323
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3213
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 946
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5078
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1533
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1852
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3890
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4029
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3709
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5849
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1130
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6102
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5169
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4175
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 777
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2711
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1237
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2149
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2228
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2367
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1885
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40723
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5477
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503759398496241e-5
allele num: 66500
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.347e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.235e0

QD
type: SiteQuality
SIO_000300: 1.783e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.379e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.82e0

DP
type: SiteQuality
SIO_000300: 3.241982e6

MQRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423089
ensembl transcript: ENST00000506209
gene symbol: NR1I3
hgvsc: ENST00000506209.1:c.322-44G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425607
ensembl transcript: ENST00000510951
gene symbol: NR1I3
hgvsc: ENST00000510951.1:c.152-44G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000399361
ensembl transcript: ENST00000412844
gene symbol: NR1I3
hgvsc: ENST00000412844.2:c.322-44G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000406493
ensembl transcript: ENST00000442691
gene symbol: NR1I3
hgvsc: ENST00000442691.2:c.409-44G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000407446
ensembl transcript: ENST00000437437
gene symbol: NR1I3
hgvsc: ENST00000437437.2:c.322-44G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427034
ensembl transcript: ENST00000515452
gene symbol: NR1I3
hgvsc: ENST00000515452.1:c.409-44G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426292
ensembl transcript: ENST00000511944
gene symbol: NR1I3
hgvsc: ENST00000511944.1:c.239-1516G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421374
ensembl transcript: ENST00000502985
gene symbol: NR1I3
hgvsc: ENST00000502985.1:c.239-1516G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426016
ensembl transcript: ENST00000502848
gene symbol: NR1I3
hgvsc: ENST00000502848.1:c.239-44G>A
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 1533
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3333
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2135
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3213
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 196
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5069
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 5170
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2323
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2711
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2728
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 941
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3510
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5792
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4174
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 777
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1130
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5849
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6100
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4011
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40721
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 94
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1858
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4476
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1081
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2363
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2146
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1239
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2138
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16378
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.163e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.348e0

QD
type: SiteQuality
SIO_000300: 1.364e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.361e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

DP
type: SiteQuality
SIO_000300: 3.234467e6

FS
type: SiteQuality
SIO_000300: 3.119e0

MQRankSum
type: SiteQuality
SIO_000300: -1.859e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000422982
ensembl transcript: ENST00000508387
gene symbol: NR1I3
hgvsc: ENST00000508387.1:c.152-1648C>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425900
ensembl transcript: ENST00000507215
gene symbol: NR1I3
hgvsc: ENST00000507215.1:c.152-176C>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423089
ensembl transcript: ENST00000506209
gene symbol: NR1I3
hgvsc: ENST00000506209.1:c.321+47C>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427175
ensembl transcript: ENST00000511676
gene symbol: NR1I3
hgvsc: ENST00000511676.1:c.321+47C>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424934
ensembl transcript: ENST00000505005
gene symbol: NR1I3
hgvsc: ENST00000505005.1:c.408+47C>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000407446
ensembl transcript: ENST00000437437
gene symbol: NR1I3
hgvsc: ENST00000437437.2:c.321+47C>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426016
ensembl transcript: ENST00000502848
gene symbol: NR1I3
hgvsc: ENST00000502848.1:c.239-176C>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000503547
gene symbol: NR1I3
hgvsc: ENST00000503547.1:n.182-176C>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424345
ensembl transcript: ENST00000504010
gene symbol: NR1I3
hgvsc: ENST00000504010.1:c.321+47C>A
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 2109
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8095
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1513
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6372
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1492
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7708
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3348
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6032
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4871
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 717
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8263
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 446
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1090
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3357
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 454
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 307
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 557
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1720
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27467
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3798
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9152
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2063
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3794
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4522
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3768
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2146
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66350
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15868
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.159999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.803e0

DP
type: SiteQuality
SIO_000300: 2.864483e6

QD
type: SiteQuality
SIO_000300: 1.245e1

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: -4.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

FS
type: SiteQuality
SIO_000300: 9.208e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425900
ensembl transcript: ENST00000507215
gene symbol: NR1I3
hgvsc: ENST00000507215.1:c.152-177C>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356965
ensembl transcript: ENST00000367985
gene symbol: NR1I3
hgvsc: ENST00000367985.3:c.408+46C>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1649C>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423666
ensembl transcript: ENST00000508740
gene symbol: NR1I3
hgvsc: ENST00000508740.1:c.321+46C>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000412672
ensembl transcript: ENST00000428574
gene symbol: NR1I3
hgvsc: ENST00000428574.2:c.408+46C>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356959
ensembl transcript: ENST00000367980
gene symbol: NR1I3
hgvsc: ENST00000367980.2:c.408+46C>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423089
ensembl transcript: ENST00000506209
gene symbol: NR1I3
hgvsc: ENST00000506209.1:c.321+46C>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424345
ensembl transcript: ENST00000504010
gene symbol: NR1I3
hgvsc: ENST00000504010.1:c.321+46C>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356961
ensembl transcript: ENST00000367982
gene symbol: NR1I3
hgvsc: ENST00000367982.4:c.408+46C>G
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 7710
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8259
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3347
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 446
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2152
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8096
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1491
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1659
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6372
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 307
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4871
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1090
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 454
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3357
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 557
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6056
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 717
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1513
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27466
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3766
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3798
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9251
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3794
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4532
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2063
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2151
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66360
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.297229219143577e-5
allele num: 15880
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

DP
type: SiteQuality
SIO_000300: 2.864793e6

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.294e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

QD
type: SiteQuality
SIO_000300: 1.452e1

FS
type: SiteQuality
SIO_000300: 2.305e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421588
ensembl transcript: ENST00000515621
gene symbol: NR1I3
hgvsc: ENST00000515621.1:c.183+45C>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000412672
ensembl transcript: ENST00000428574
gene symbol: NR1I3
hgvsc: ENST00000428574.2:c.408+45C>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000407446
ensembl transcript: ENST00000437437
gene symbol: NR1I3
hgvsc: ENST00000437437.2:c.321+45C>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425607
ensembl transcript: ENST00000510951
gene symbol: NR1I3
hgvsc: ENST00000510951.1:c.152-178C>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427175
ensembl transcript: ENST00000511676
gene symbol: NR1I3
hgvsc: ENST00000511676.1:c.321+45C>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356962
ensembl transcript: ENST00000367983
gene symbol: NR1I3
hgvsc: ENST00000367983.4:c.408+45C>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000406493
ensembl transcript: ENST00000442691
gene symbol: NR1I3
hgvsc: ENST00000442691.2:c.408+45C>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427034
ensembl transcript: ENST00000515452
gene symbol: NR1I3
hgvsc: ENST00000515452.1:c.408+45C>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356959
ensembl transcript: ENST00000367980
gene symbol: NR1I3
hgvsc: ENST00000367980.2:c.408+45C>G
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 1491
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1090
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4871
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1571
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8096
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6372
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6067
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1513
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2232
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3358
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 557
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8257
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7711
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3347
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 717
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 454
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2147
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3795
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9342
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2063
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3765
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27466
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4533
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3799
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66370
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.885725278953444e-4
allele num: 10396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15918
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

QD
type: SiteQuality
SIO_000300: 1.539e1

FS
type: SiteQuality
SIO_000300: 1.485e0

DP
type: SiteQuality
SIO_000300: 2.86509e6

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

MQ
type: SiteQuality
SIO_000300: 5.926e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356961
ensembl transcript: ENST00000367982
gene symbol: NR1I3
hgvsc: ENST00000367982.4:c.408+43C>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427034
ensembl transcript: ENST00000515452
gene symbol: NR1I3
hgvsc: ENST00000515452.1:c.408+43C>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000407446
ensembl transcript: ENST00000437437
gene symbol: NR1I3
hgvsc: ENST00000437437.2:c.321+43C>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356960
ensembl transcript: ENST00000367981
gene symbol: NR1I3
hgvsc: ENST00000367981.3:c.321+43C>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424834
ensembl transcript: ENST00000506018
gene symbol: NR1I3
hgvsc: ENST00000506018.1:c.321+43C>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424345
ensembl transcript: ENST00000504010
gene symbol: NR1I3
hgvsc: ENST00000504010.1:c.321+43C>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426016
ensembl transcript: ENST00000502848
gene symbol: NR1I3
hgvsc: ENST00000502848.1:c.239-180C>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423666
ensembl transcript: ENST00000508740
gene symbol: NR1I3
hgvsc: ENST00000508740.1:c.321+43C>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356959
ensembl transcript: ENST00000367980
gene symbol: NR1I3
hgvsc: ENST00000367980.2:c.408+43C>A
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 2227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1091
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2360
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1424
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6096
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 454
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 439
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4872
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 717
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6373
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8265
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 557
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7709
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3343
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 8096
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1480
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3358
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1514
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27464
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 647
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4540
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3795
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3796
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9515
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2148
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3764
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2063
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.312138728323699e-4
allele num: 8650
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.128e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

DP
type: SiteQuality
SIO_000300: 2.865629e6

QD
type: SiteQuality
SIO_000300: 1.128e1

VQSLOD
type: SiteQuality
SIO_000300: 4.85e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424345
ensembl transcript: ENST00000504010
gene symbol: NR1I3
hgvsc: ENST00000504010.1:c.321+40G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426292
ensembl transcript: ENST00000511944
gene symbol: NR1I3
hgvsc: ENST00000511944.1:c.239-1655G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426016
ensembl transcript: ENST00000502848
gene symbol: NR1I3
hgvsc: ENST00000502848.1:c.239-183G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000412672
ensembl transcript: ENST00000428574
gene symbol: NR1I3
hgvsc: ENST00000428574.2:c.408+40G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000399361
ensembl transcript: ENST00000412844
gene symbol: NR1I3
hgvsc: ENST00000412844.2:c.321+40G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000407446
ensembl transcript: ENST00000437437
gene symbol: NR1I3
hgvsc: ENST00000437437.2:c.321+40G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1655G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427034
ensembl transcript: ENST00000515452
gene symbol: NR1I3
hgvsc: ENST00000515452.1:c.408+40G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425417
ensembl transcript: ENST00000512372
gene symbol: NR1I3
hgvsc: ENST00000512372.1:c.321+40G>A
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 557
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6164
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8096
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1408
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1152
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 422
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7710
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6373
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 717
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4872
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2644
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1091
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3358
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3341
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 454
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8277
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1514
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4552
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3765
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9833
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3797
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2065
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3798
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27463
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 320
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2148
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.923816852635629e-4
allele num: 10396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.279829188646068e-5
allele num: 15924
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.143e0

QD
type: SiteQuality
SIO_000300: 1.135e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.08e-1

FS
type: SiteQuality
SIO_000300: 2.028e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

DP
type: SiteQuality
SIO_000300: 2.868131e6

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356959
ensembl transcript: ENST00000367980
gene symbol: NR1I3
hgvsc: ENST00000367980.2:c.408+33A>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424934
ensembl transcript: ENST00000505005
gene symbol: NR1I3
hgvsc: ENST00000505005.1:c.408+33A>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424834
ensembl transcript: ENST00000506018
gene symbol: NR1I3
hgvsc: ENST00000506018.1:c.321+33A>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425900
ensembl transcript: ENST00000507215
gene symbol: NR1I3
hgvsc: ENST00000507215.1:c.152-190A>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427034
ensembl transcript: ENST00000515452
gene symbol: NR1I3
hgvsc: ENST00000515452.1:c.408+33A>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000412672
ensembl transcript: ENST00000428574
gene symbol: NR1I3
hgvsc: ENST00000428574.2:c.408+33A>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424345
ensembl transcript: ENST00000504010
gene symbol: NR1I3
hgvsc: ENST00000504010.1:c.321+33A>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1662A>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426016
ensembl transcript: ENST00000502848
gene symbol: NR1I3
hgvsc: ENST00000502848.1:c.239-190A>T
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 8299
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1170
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 414
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6374
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 557
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8096
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4872
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 717
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3312
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6245
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1091
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 634
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1514
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7710
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3359
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 454
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3339
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 161
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10581
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27461
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2170
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3766
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4632
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3795
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3803
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2065
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.878051834230625e-4
allele num: 15974
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.276e0

DP
type: SiteQuality
SIO_000300: 2.873528e6

FS
type: SiteQuality
SIO_000300: 1.227e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.91e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.14e-1

QD
type: SiteQuality
SIO_000300: 1.392e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000505944
gene symbol: NR1I3
hgvsc: ENST00000505944.1:n.182-199delT
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000399361
ensembl transcript: ENST00000412844
gene symbol: NR1I3
hgvsc: ENST00000412844.2:c.321+24delT
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424345
ensembl transcript: ENST00000504010
gene symbol: NR1I3
hgvsc: ENST00000504010.1:c.321+24delT
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356958
ensembl transcript: ENST00000367979
gene symbol: NR1I3
hgvsc: ENST00000367979.2:c.408+24delT
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427034
ensembl transcript: ENST00000515452
gene symbol: NR1I3
hgvsc: ENST00000515452.1:c.408+24delT
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1671delT
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424934
ensembl transcript: ENST00000505005
gene symbol: NR1I3
hgvsc: ENST00000505005.1:c.408+24delT
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423089
ensembl transcript: ENST00000506209
gene symbol: NR1I3
hgvsc: ENST00000506209.1:c.321+24delT
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356961
ensembl transcript: ENST00000367982
gene symbol: NR1I3
hgvsc: ENST00000367982.4:c.408+24delT
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 7714
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3359
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 345
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8101
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1514
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4872
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 453
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 557
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3812
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 344
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8358
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6462
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 717
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 752
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6374
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3337
bin: 9.75e1
variant carriers: 6

GenotypeDepth
all individuals: 1091
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4670
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11143
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2203
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2069
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3766
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3820
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27459
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3806
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.526946468356717e-5
allele num: 66428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16052
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.6e0

MQ
type: SiteQuality
SIO_000300: 6.003e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.311e1

DP
type: SiteQuality
SIO_000300: 2.881797e6

FS
type: SiteQuality
SIO_000300: 1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.32e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425417
ensembl transcript: ENST00000512372
gene symbol: NR1I3
hgvsc: ENST00000512372.1:c.321+21G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000406493
ensembl transcript: ENST00000442691
gene symbol: NR1I3
hgvsc: ENST00000442691.2:c.408+21G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426292
ensembl transcript: ENST00000511944
gene symbol: NR1I3
hgvsc: ENST00000511944.1:c.239-1674G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423666
ensembl transcript: ENST00000508740
gene symbol: NR1I3
hgvsc: ENST00000508740.1:c.321+21G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000412672
ensembl transcript: ENST00000428574
gene symbol: NR1I3
hgvsc: ENST00000428574.2:c.408+21G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423089
ensembl transcript: ENST00000506209
gene symbol: NR1I3
hgvsc: ENST00000506209.1:c.321+21G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424345
ensembl transcript: ENST00000504010
gene symbol: NR1I3
hgvsc: ENST00000504010.1:c.321+21G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427034
ensembl transcript: ENST00000515452
gene symbol: NR1I3
hgvsc: ENST00000515452.1:c.408+21G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000407446
ensembl transcript: ENST00000437437
gene symbol: NR1I3
hgvsc: ENST00000437437.2:c.321+21G>A
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 3331
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 306
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4053
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7716
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 240
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6374
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6582
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 522
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4873
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 557
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 453
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8385
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1514
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 298
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 717
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1091
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3359
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8101
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4717
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2207
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27455
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 249
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2074
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3827
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11555
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3768
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3821
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16146
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.949e1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.651e0

FS
type: SiteQuality
SIO_000300: 1.876e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.48e-1

DP
type: SiteQuality
SIO_000300: 2.885395e6

QD
type: SiteQuality
SIO_000300: 1.101e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e-1

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356959
ensembl transcript: ENST00000367980
gene symbol: NR1I3
hgvsc: ENST00000367980.2:c.408+15G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427175
ensembl transcript: ENST00000511676
gene symbol: NR1I3
hgvsc: ENST00000511676.1:c.321+15G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424834
ensembl transcript: ENST00000506018
gene symbol: NR1I3
hgvsc: ENST00000506018.1:c.321+15G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423089
ensembl transcript: ENST00000506209
gene symbol: NR1I3
hgvsc: ENST00000506209.1:c.321+15G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1680G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000407446
ensembl transcript: ENST00000437437
gene symbol: NR1I3
hgvsc: ENST00000437437.2:c.321+15G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356960
ensembl transcript: ENST00000367981
gene symbol: NR1I3
hgvsc: ENST00000367981.3:c.321+15G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426016
ensembl transcript: ENST00000502848
gene symbol: NR1I3
hgvsc: ENST00000502848.1:c.239-208G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000412672
ensembl transcript: ENST00000428574
gene symbol: NR1I3
hgvsc: ENST00000428574.2:c.408+15G>A
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 3328
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7720
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1091
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8425
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4253
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1514
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6375
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3359
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8103
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4873
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 323
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 453
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 717
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 557
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6722
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11869
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3772
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2210
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3854
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4746
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27455
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2077
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3829
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503533303262667e-5
allele num: 66510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e0

FS
type: SiteQuality
SIO_000300: 3.52e0

MQRankSum
type: SiteQuality
SIO_000300: -7.52e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.391e0

QD
type: SiteQuality
SIO_000300: 1.205e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.247e0

DP
type: SiteQuality
SIO_000300: 2.889891e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.339e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.86e-2

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000422982
ensembl transcript: ENST00000508387
gene symbol: NR1I3
hgvsc: ENST00000508387.1:c.152-1686C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427175
ensembl transcript: ENST00000511676
gene symbol: NR1I3
hgvsc: ENST00000511676.1:c.321+9C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423007
ensembl transcript: ENST00000512340
gene symbol: NR1I3
hgvsc: ENST00000512340.1:c.152-214C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427034
ensembl transcript: ENST00000515452
gene symbol: NR1I3
hgvsc: ENST00000515452.1:c.408+9C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425900
ensembl transcript: ENST00000507215
gene symbol: NR1I3
hgvsc: ENST00000507215.1:c.152-214C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423089
ensembl transcript: ENST00000506209
gene symbol: NR1I3
hgvsc: ENST00000506209.1:c.321+9C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421588
ensembl transcript: ENST00000515621
gene symbol: NR1I3
hgvsc: ENST00000515621.1:c.183+9C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423666
ensembl transcript: ENST00000508740
gene symbol: NR1I3
hgvsc: ENST00000508740.1:c.321+9C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424345
ensembl transcript: ENST00000504010
gene symbol: NR1I3
hgvsc: ENST00000504010.1:c.321+9C>T
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 1091
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 717
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 453
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1514
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3359
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 557
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4314
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7719
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6884
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6375
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 187
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3328
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4873
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8457
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8106
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3885
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3780
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27457
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 81
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3841
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4818
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12079
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2237
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.10798924993892e-5
allele num: 16372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.58e0

DP
type: SiteQuality
SIO_000300: 2.893873e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

FS
type: SiteQuality
SIO_000300: 2.488e0

MQRankSum
type: SiteQuality
SIO_000300: -9.28e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.385e1

VQSLOD
type: SiteQuality
SIO_000300: 5.34e-1

Annotation
canonical: false
consequence: splice_donor_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356962
ensembl transcript: ENST00000367983
gene symbol: NR1I3
hgvsc: ENST00000367983.4:c.408+1G>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426016
ensembl transcript: ENST00000502848
gene symbol: NR1I3
hgvsc: ENST00000502848.1:c.239-222G>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: splice_donor_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423666
ensembl transcript: ENST00000508740
gene symbol: NR1I3
hgvsc: ENST00000508740.1:c.321+1G>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: splice_donor_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356963
ensembl transcript: ENST00000367984
gene symbol: NR1I3
hgvsc: ENST00000367984.4:c.408+1G>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421374
ensembl transcript: ENST00000502985
gene symbol: NR1I3
hgvsc: ENST00000502985.1:c.239-1694G>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426292
ensembl transcript: ENST00000511944
gene symbol: NR1I3
hgvsc: ENST00000511944.1:c.239-1694G>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1694G>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: splice_donor_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424345
ensembl transcript: ENST00000504010
gene symbol: NR1I3
hgvsc: ENST00000504010.1:c.321+1G>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: splice_donor_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000399361
ensembl transcript: ENST00000412844
gene symbol: NR1I3
hgvsc: ENST00000412844.2:c.321+1G>T
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 8505
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4296
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 717
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7049
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7719
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3359
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3327
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8115
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1091
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6375
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 453
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4873
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1514
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 557
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3882
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27460
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 115
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4848
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2247
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3860
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12211
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2086
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3782
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.105e0

VQSLOD
type: SiteQuality
SIO_000300: -5.861e-1

FS
type: SiteQuality
SIO_000300: 2.475e0

DP
type: SiteQuality
SIO_000300: 2.897414e6

MQ
type: SiteQuality
SIO_000300: 5.868e1

MQRankSum
type: SiteQuality
SIO_000300: -9.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.14e-1

QD
type: SiteQuality
SIO_000300: 1.278e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1700T>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425417
ensembl transcript: ENST00000512372
gene symbol: NR1I3
hgvsc: ENST00000512372.1:c.316T>C
hgvsp: ENSP00000425417.1:p.Phe106Leu
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426292
ensembl transcript: ENST00000511944
gene symbol: NR1I3
hgvsc: ENST00000511944.1:c.239-1700T>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424345
ensembl transcript: ENST00000504010
gene symbol: NR1I3
hgvsc: ENST00000504010.1:c.316T>C
hgvsp: ENSP00000424345.1:p.Phe106Leu
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000422982
ensembl transcript: ENST00000508387
gene symbol: NR1I3
hgvsc: ENST00000508387.1:c.152-1700T>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356958
ensembl transcript: ENST00000367979
gene symbol: NR1I3
hgvsc: ENST00000367979.2:c.403T>C
hgvsp: ENSP00000356958.2:p.Phe135Leu
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425607
ensembl transcript: ENST00000510951
gene symbol: NR1I3
hgvsc: ENST00000510951.1:c.152-228T>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427175
ensembl transcript: ENST00000511676
gene symbol: NR1I3
hgvsc: ENST00000511676.1:c.316T>C
hgvsp: ENSP00000427175.1:p.Phe106Leu
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356963
ensembl transcript: ENST00000367984
gene symbol: NR1I3
hgvsc: ENST00000367984.4:c.403T>C
hgvsp: ENSP00000356963.4:p.Phe135Leu
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425900
ensembl transcript: ENST00000507215
gene symbol: NR1I3
hgvsc: ENST00000507215.1:c.152-228T>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423007
ensembl transcript: ENST00000512340
gene symbol: NR1I3
hgvsc: ENST00000512340.1:c.152-228T>C
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 1514
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4291
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8118
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1091
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6376
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7120
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4873
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7719
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 557
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8520
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 453
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3326
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 717
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3359
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3894
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3783
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2092
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27461
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3867
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12287
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4880
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2249
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.89882e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.28e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e0

QD
type: SiteQuality
SIO_000300: 1.35e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000399361
ensembl transcript: ENST00000412844
gene symbol: NR1I3
hgvsc: ENST00000412844.2:c.310G>A
hgvsp: ENSP00000399361.2:p.Val104Met
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000412672
ensembl transcript: ENST00000428574
gene symbol: NR1I3
hgvsc: ENST00000428574.2:c.397G>A
hgvsp: ENSP00000412672.2:p.Val133Met
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000422982
ensembl transcript: ENST00000508387
gene symbol: NR1I3
hgvsc: ENST00000508387.1:c.152-1706G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356959
ensembl transcript: ENST00000367980
gene symbol: NR1I3
hgvsc: ENST00000367980.2:c.397G>A
hgvsp: ENSP00000356959.2:p.Val133Met
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000406493
ensembl transcript: ENST00000442691
gene symbol: NR1I3
hgvsc: ENST00000442691.2:c.397G>A
hgvsp: ENSP00000406493.2:p.Val133Met
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1706G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426016
ensembl transcript: ENST00000502848
gene symbol: NR1I3
hgvsc: ENST00000502848.1:c.239-234G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356958
ensembl transcript: ENST00000367979
gene symbol: NR1I3
hgvsc: ENST00000367979.2:c.397G>A
hgvsp: ENSP00000356958.2:p.Val133Met
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421588
ensembl transcript: ENST00000515621
gene symbol: NR1I3
hgvsc: ENST00000515621.1:c.172G>A
hgvsp: ENSP00000421588.1:p.Val58Met
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423007
ensembl transcript: ENST00000512340
gene symbol: NR1I3
hgvsc: ENST00000512340.1:c.152-234G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000505944
gene symbol: NR1I3
hgvsc: ENST00000505944.1:n.182-234G>A
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 3359
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1091
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 453
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4271
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4873
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8122
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 557
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6376
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7155
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 717
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8554
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1514
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3326
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 306
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7722
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3875
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2246
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3896
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27462
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12319
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2093
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3784
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4892
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.293e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.353e0

MQRankSum
type: SiteQuality
SIO_000300: -2.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -9.087e-1

QD
type: SiteQuality
SIO_000300: 1.027e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e0

MQ
type: SiteQuality
SIO_000300: 5.909e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e0

DP
type: SiteQuality
SIO_000300: 2.900227e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427034
ensembl transcript: ENST00000515452
gene symbol: NR1I3
hgvsc: ENST00000515452.1:c.383T>C
hgvsp: ENSP00000427034.1:p.Met128Thr
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423089
ensembl transcript: ENST00000506209
gene symbol: NR1I3
hgvsc: ENST00000506209.1:c.296T>C
hgvsp: ENSP00000423089.1:p.Met99Thr
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000406493
ensembl transcript: ENST00000442691
gene symbol: NR1I3
hgvsc: ENST00000442691.2:c.383T>C
hgvsp: ENSP00000406493.2:p.Met128Thr
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356963
ensembl transcript: ENST00000367984
gene symbol: NR1I3
hgvsc: ENST00000367984.4:c.383T>C
hgvsp: ENSP00000356963.4:p.Met128Thr
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427175
ensembl transcript: ENST00000511676
gene symbol: NR1I3
hgvsc: ENST00000511676.1:c.296T>C
hgvsp: ENSP00000427175.1:p.Met99Thr
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000422982
ensembl transcript: ENST00000508387
gene symbol: NR1I3
hgvsc: ENST00000508387.1:c.152-1720T>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425900
ensembl transcript: ENST00000507215
gene symbol: NR1I3
hgvsc: ENST00000507215.1:c.152-248T>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421374
ensembl transcript: ENST00000502985
gene symbol: NR1I3
hgvsc: ENST00000502985.1:c.239-1720T>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1720T>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423666
ensembl transcript: ENST00000508740
gene symbol: NR1I3
hgvsc: ENST00000508740.1:c.296T>C
hgvsp: ENSP00000423666.1:p.Met99Thr
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426016
ensembl transcript: ENST00000502848
gene symbol: NR1I3
hgvsc: ENST00000502848.1:c.239-248T>C
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8565
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8122
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7722
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4873
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 453
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3359
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 557
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7172
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6376
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1514
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 717
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4287
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3325
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1091
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3878
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27464
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12359
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2254
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4903
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3785
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3903
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.900924e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.915e0

VQSLOD
type: SiteQuality
SIO_000300: -3.97e-1

FS
type: SiteQuality
SIO_000300: 2.854e0

MQ
type: SiteQuality
SIO_000300: 5.935e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.28e-2

QD
type: SiteQuality
SIO_000300: 1.527e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426292
ensembl transcript: ENST00000511944
gene symbol: NR1I3
hgvsc: ENST00000511944.1:c.239-1721A>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427175
ensembl transcript: ENST00000511676
gene symbol: NR1I3
hgvsc: ENST00000511676.1:c.295A>G
hgvsp: ENSP00000427175.1:p.Met99Val
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000407446
ensembl transcript: ENST00000437437
gene symbol: NR1I3
hgvsc: ENST00000437437.2:c.295A>G
hgvsp: ENSP00000407446.2:p.Met99Val
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356958
ensembl transcript: ENST00000367979
gene symbol: NR1I3
hgvsc: ENST00000367979.2:c.382A>G
hgvsp: ENSP00000356958.2:p.Met128Val
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423007
ensembl transcript: ENST00000512340
gene symbol: NR1I3
hgvsc: ENST00000512340.1:c.152-249A>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426016
ensembl transcript: ENST00000502848
gene symbol: NR1I3
hgvsc: ENST00000502848.1:c.239-249A>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1721A>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424834
ensembl transcript: ENST00000506018
gene symbol: NR1I3
hgvsc: ENST00000506018.1:c.295A>G
hgvsp: ENSP00000424834.1:p.Met99Val
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000503547
gene symbol: NR1I3
hgvsc: ENST00000503547.1:n.182-249A>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356962
ensembl transcript: ENST00000367983
gene symbol: NR1I3
hgvsc: ENST00000367983.4:c.382A>G
hgvsp: ENSP00000356962.4:p.Met128Val
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421374
ensembl transcript: ENST00000502985
gene symbol: NR1I3
hgvsc: ENST00000502985.1:c.239-1721A>G
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 4873
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4291
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3323
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6376
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7173
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8123
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7722
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8565
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1091
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 558
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1514
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3359
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 717
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 453
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3786
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3903
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12365
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2254
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3878
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27465
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4903
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.64e-1

DP
type: SiteQuality
SIO_000300: 2.900545e6

MQRankSum
type: SiteQuality
SIO_000300: -7.179e0

FS
type: SiteQuality
SIO_000300: 5.425e0

QD
type: SiteQuality
SIO_000300: 3.61e0

MQ
type: SiteQuality
SIO_000300: 5.396e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.29e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.597e0

Annotation
canonical: true
consequence: inframe_insertion
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356959
ensembl transcript: ENST00000367980
gene symbol: NR1I3
hgvsp: ENSP00000356959.2:p.His121_Thr127dup
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421374
ensembl transcript: ENST00000502985
gene symbol: NR1I3
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: inframe_insertion
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421588
ensembl transcript: ENST00000515621
gene symbol: NR1I3
hgvsp: ENSP00000421588.1:p.His46_Thr52dup
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: inframe_insertion
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423089
ensembl transcript: ENST00000506209
gene symbol: NR1I3
hgvsp: ENSP00000423089.1:p.His92_Thr98dup
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: inframe_insertion
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424834
ensembl transcript: ENST00000506018
gene symbol: NR1I3
hgvsp: ENSP00000424834.1:p.His92_Thr98dup
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423007
ensembl transcript: ENST00000512340
gene symbol: NR1I3
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: inframe_insertion
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000406493
ensembl transcript: ENST00000442691
gene symbol: NR1I3
hgvsp: ENSP00000406493.2:p.His121_Thr127dup
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: inframe_insertion
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424345
ensembl transcript: ENST00000504010
gene symbol: NR1I3
hgvsp: ENSP00000424345.1:p.His92_Thr98dup
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 7173
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4873
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 558
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 306
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8123
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4291
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1091
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8565
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7722
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6376
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3323
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 453
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 717
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1514
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3359
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2254
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12365
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27465
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3903
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3786
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4903
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3878
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.29e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.64e-1

QD
type: SiteQuality
SIO_000300: 3.61e0

MQ
type: SiteQuality
SIO_000300: 5.396e1

MQRankSum
type: SiteQuality
SIO_000300: -7.179e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

FS
type: SiteQuality
SIO_000300: 5.425e0

DP
type: SiteQuality
SIO_000300: 2.900545e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.597e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356965
ensembl transcript: ENST00000367985
gene symbol: NR1I3
hgvsc: ENST00000367985.3:c.374T>G
hgvsp: ENSP00000356965.3:p.Met125Arg
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425900
ensembl transcript: ENST00000507215
gene symbol: NR1I3
hgvsc: ENST00000507215.1:c.152-257T>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000399361
ensembl transcript: ENST00000412844
gene symbol: NR1I3
hgvsc: ENST00000412844.2:c.287T>G
hgvsp: ENSP00000399361.2:p.Met96Arg
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000422982
ensembl transcript: ENST00000508387
gene symbol: NR1I3
hgvsc: ENST00000508387.1:c.152-1729T>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1729T>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426292
ensembl transcript: ENST00000511944
gene symbol: NR1I3
hgvsc: ENST00000511944.1:c.239-1729T>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000505944
gene symbol: NR1I3
hgvsc: ENST00000505944.1:n.182-257T>G
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427034
ensembl transcript: ENST00000515452
gene symbol: NR1I3
hgvsc: ENST00000515452.1:c.374T>G
hgvsp: ENSP00000427034.1:p.Met125Arg
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356963
ensembl transcript: ENST00000367984
gene symbol: NR1I3
hgvsc: ENST00000367984.4:c.374T>G
hgvsp: ENSP00000356963.4:p.Met125Arg
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423666
ensembl transcript: ENST00000508740
gene symbol: NR1I3
hgvsc: ENST00000508740.1:c.287T>G
hgvsp: ENSP00000423666.1:p.Met96Arg
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421588
ensembl transcript: ENST00000515621
gene symbol: NR1I3
hgvsc: ENST00000515621.1:c.149T>G
hgvsp: ENSP00000421588.1:p.Met50Arg
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6396
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1517
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 453
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4891
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7129
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8555
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3371
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4252
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3323
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 560
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7742
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 717
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8135
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 308
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1093
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2234
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2091
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27459
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4840
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12245
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3875
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3781
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3859
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.76e0

FS
type: SiteQuality
SIO_000300: 2.447e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.37e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

VQSLOD
type: SiteQuality
SIO_000300: -1.353e0

MQRankSum
type: SiteQuality
SIO_000300: 2.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.28e-2

QD
type: SiteQuality
SIO_000300: 1.33e1

DP
type: SiteQuality
SIO_000300: 2.902944e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.43e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425417
ensembl transcript: ENST00000512372
gene symbol: NR1I3
hgvsc: ENST00000512372.1:c.287T>C
hgvsp: ENSP00000425417.1:p.Met96Thr
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000505944
gene symbol: NR1I3
hgvsc: ENST00000505944.1:n.182-257T>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427175
ensembl transcript: ENST00000511676
gene symbol: NR1I3
hgvsc: ENST00000511676.1:c.287T>C
hgvsp: ENSP00000427175.1:p.Met96Thr
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423089
ensembl transcript: ENST00000506209
gene symbol: NR1I3
hgvsc: ENST00000506209.1:c.287T>C
hgvsp: ENSP00000423089.1:p.Met96Thr
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356961
ensembl transcript: ENST00000367982
gene symbol: NR1I3
hgvsc: ENST00000367982.4:c.374T>C
hgvsp: ENSP00000356961.4:p.Met125Thr
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426016
ensembl transcript: ENST00000502848
gene symbol: NR1I3
hgvsc: ENST00000502848.1:c.239-257T>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000399361
ensembl transcript: ENST00000412844
gene symbol: NR1I3
hgvsc: ENST00000412844.2:c.287T>C
hgvsp: ENSP00000399361.2:p.Met96Thr
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425900
ensembl transcript: ENST00000507215
gene symbol: NR1I3
hgvsc: ENST00000507215.1:c.152-257T>C
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000406493
ensembl transcript: ENST00000442691
gene symbol: NR1I3
hgvsc: ENST00000442691.2:c.374T>C
hgvsp: ENSP00000406493.2:p.Met125Thr
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000407446
ensembl transcript: ENST00000437437
gene symbol: NR1I3
hgvsc: ENST00000437437.2:c.287T>C
hgvsp: ENSP00000407446.2:p.Met96Thr
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356963
ensembl transcript: ENST00000367984
gene symbol: NR1I3
hgvsc: ENST00000367984.4:c.374T>C
hgvsp: ENSP00000356963.4:p.Met125Thr
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 6396
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 717
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1093
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3323
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8135
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8555
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7129
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4891
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3371
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7742
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 308
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4252
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1517
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 453
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2227
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3781
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3859
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2091
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3875
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27459
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4840
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2234
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12245
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.902944e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.28e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.37e-1

QD
type: SiteQuality
SIO_000300: 1.33e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.43e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

MQRankSum
type: SiteQuality
SIO_000300: 2.46e0

FS
type: SiteQuality
SIO_000300: 2.447e0

VQSLOD
type: SiteQuality
SIO_000300: -1.353e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.76e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427175
ensembl transcript: ENST00000511676
gene symbol: NR1I3
hgvsc: ENST00000511676.1:c.285C>T
hgvsp: ENST00000511676.1:c.285C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424345
ensembl transcript: ENST00000504010
gene symbol: NR1I3
hgvsc: ENST00000504010.1:c.285C>T
hgvsp: ENST00000504010.1:c.285C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000412672
ensembl transcript: ENST00000428574
gene symbol: NR1I3
hgvsc: ENST00000428574.2:c.372C>T
hgvsp: ENST00000428574.2:c.372C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425417
ensembl transcript: ENST00000512372
gene symbol: NR1I3
hgvsc: ENST00000512372.1:c.285C>T
hgvsp: ENST00000512372.1:c.285C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425900
ensembl transcript: ENST00000507215
gene symbol: NR1I3
hgvsc: ENST00000507215.1:c.152-259C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000503547
gene symbol: NR1I3
hgvsc: ENST00000503547.1:n.182-259C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000422982
ensembl transcript: ENST00000508387
gene symbol: NR1I3
hgvsc: ENST00000508387.1:c.152-1731C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423666
ensembl transcript: ENST00000508740
gene symbol: NR1I3
hgvsc: ENST00000508740.1:c.285C>T
hgvsp: ENST00000508740.1:c.285C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356958
ensembl transcript: ENST00000367979
gene symbol: NR1I3
hgvsc: ENST00000367979.2:c.372C>T
hgvsp: ENST00000367979.2:c.372C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000406493
ensembl transcript: ENST00000442691
gene symbol: NR1I3
hgvsc: ENST00000442691.2:c.372C>T
hgvsp: ENST00000442691.2:c.372C>T(p.%3D)
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421374
ensembl transcript: ENST00000502985
gene symbol: NR1I3
hgvsc: ENST00000502985.1:c.239-1731C>T
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 8120
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 721
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 455
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3359
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1097
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 566
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7111
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2231
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4890
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 313
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4238
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6391
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1523
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8539
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7744
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3370
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3776
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2228
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2090
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3861
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3852
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12274
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4831
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27453
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.546e1

FS
type: SiteQuality
SIO_000300: 1.682e0

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.174e-1

MQ
type: SiteQuality
SIO_000300: 5.887e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.865e0

DP
type: SiteQuality
SIO_000300: 2.906982e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.53e-2

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356961
ensembl transcript: ENST00000367982
gene symbol: NR1I3
hgvsc: ENST00000367982.4:c.368G>A
hgvsp: ENSP00000356961.4:p.Arg123His
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356960
ensembl transcript: ENST00000367981
gene symbol: NR1I3
hgvsc: ENST00000367981.3:c.281G>A
hgvsp: ENSP00000356960.3:p.Arg94His
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356962
ensembl transcript: ENST00000367983
gene symbol: NR1I3
hgvsc: ENST00000367983.4:c.368G>A
hgvsp: ENSP00000356962.4:p.Arg123His
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425900
ensembl transcript: ENST00000507215
gene symbol: NR1I3
hgvsc: ENST00000507215.1:c.152-263G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000399361
ensembl transcript: ENST00000412844
gene symbol: NR1I3
hgvsc: ENST00000412844.2:c.281G>A
hgvsp: ENSP00000399361.2:p.Arg94His
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427600
ensembl transcript: ENST00000511748
gene symbol: NR1I3
hgvsc: ENST00000511748.1:c.152-1735G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000423007
ensembl transcript: ENST00000512340
gene symbol: NR1I3
hgvsc: ENST00000512340.1:c.152-263G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000422982
ensembl transcript: ENST00000508387
gene symbol: NR1I3
hgvsc: ENST00000508387.1:c.152-1735G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426292
ensembl transcript: ENST00000511944
gene symbol: NR1I3
hgvsc: ENST00000511944.1:c.239-1735G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000505944
gene symbol: NR1I3
hgvsc: ENST00000505944.1:n.182-263G>A
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356963
ensembl transcript: ENST00000367984
gene symbol: NR1I3
hgvsc: ENST00000367984.4:c.368G>A
hgvsp: ENSP00000356963.4:p.Arg123His
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 7102
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4214
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2232
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3345
bin: 9.75e1
variant carriers: 50

GenotypeDepth
all individuals: 6408
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 728
bin: 7.75e1
variant carriers: 5

GenotypeDepth
all individuals: 8113
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3374
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 465
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 567
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8531
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7747
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4895
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1531
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 317
bin: 9.25e1
variant carriers: 3

GenotypeDepth
all individuals: 1104
bin: 7.25e1
variant carriers: 5

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3862
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2088
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3852
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4862
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12411
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27455
bin: 9.75e1
variant carriers: 73

GenotypeQuality
all individuals: 3777
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 69
allele frequency: 4.178779069767441e-3
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.846893633391037e-4
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e0

FS
type: SiteQuality
SIO_000300: 3.172e0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

DP
type: SiteQuality
SIO_000300: 2.911948e6

QD
type: SiteQuality
SIO_000300: 1.353e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.281e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000505944
gene symbol: NR1I3
hgvsc: ENST00000505944.1:n.182-264C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424934
ensembl transcript: ENST00000505005
gene symbol: NR1I3
hgvsc: ENST00000505005.1:c.367C>T
hgvsp: ENSP00000424934.1:p.Arg123Cys
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427175
ensembl transcript: ENST00000511676
gene symbol: NR1I3
hgvsc: ENST00000511676.1:c.280C>T
hgvsp: ENSP00000427175.1:p.Arg94Cys
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000426016
ensembl transcript: ENST00000502848
gene symbol: NR1I3
hgvsc: ENST00000502848.1:c.239-264C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425417
ensembl transcript: ENST00000512372
gene symbol: NR1I3
hgvsc: ENST00000512372.1:c.280C>T
hgvsp: ENSP00000425417.1:p.Arg94Cys
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000421374
ensembl transcript: ENST00000502985
gene symbol: NR1I3
hgvsc: ENST00000502985.1:c.239-1736C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl transcript: ENST00000503547
gene symbol: NR1I3
hgvsc: ENST00000503547.1:n.182-264C>T
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000427034
ensembl transcript: ENST00000515452
gene symbol: NR1I3
hgvsc: ENST00000515452.1:c.367C>T
hgvsp: ENSP00000427034.1:p.Arg123Cys
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000356962
ensembl transcript: ENST00000367983
gene symbol: NR1I3
hgvsc: ENST00000367983.4:c.367C>T
hgvsp: ENSP00000356962.4:p.Arg123Cys
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000424345
ensembl transcript: ENST00000504010
gene symbol: NR1I3
hgvsc: ENST00000504010.1:c.280C>T
hgvsp: ENSP00000424345.1:p.Arg94Cys
variant of: http://identifiers.org/hgnc/7969

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000143257
ensembl protein: ENSP00000425900
ensembl transcript: ENST00000507215
gene symbol: NR1I3
hgvsc: ENST00000507215.1:c.152-264C>T
variant of: http://identifiers.org/hgnc/7969

GenotypeDepth
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4216
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 463
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1096
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3290
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 7110
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 315
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4899
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8541
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6422
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7759
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 567
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2237
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1533
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3377
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8127
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 725
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0