19-50863040-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863040
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863040
    reference: chr 19
allele count: 4
allele frequency: 3.298697014679201e-5
allele num: 121260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.721G>A
  hgvsp: ENSP00000469061.1:p.Val241Met
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11572C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1983G>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.748G>A
  hgvsp: ENSP00000253719.1:p.Val250Met
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*309G>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7177C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13088C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7177C>T
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29972
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2414
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val250Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

19-50863041-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863041
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863041
    reference: chr 19
allele count: 6
allele frequency: 4.947882306372873e-5
allele num: 121264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*308C>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.747C>T
  hgvsp: ENST00000253719.2:c.747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11571G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1982C>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7178G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.720C>T
  hgvsp: ENST00000598915.1:c.720C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13087G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7178G>A
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10016
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11439
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3392
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3095
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe249Phe
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

19-50863042-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863042
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863042
    reference: chr 19
allele count: 7
allele frequency: 5.772434153018983e-5
allele num: 121266
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11570A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13086A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*307T>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7179A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.719T>C
  hgvsp: ENSP00000469061.1:p.Phe240Ser
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7179A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1981T>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.746T>C
  hgvsp: ENSP00000253719.1:p.Phe249Ser
  variant of: http://identifiers.org/hgnc/13395
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe249Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

19-50863044-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863044
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863044
    reference: chr 19
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11568G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.717C>T
  hgvsp: ENST00000598915.1:c.717C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7181G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.744C>T
  hgvsp: ENST00000253719.2:c.744C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7181G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1979C>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*305C>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13084G>A
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3372
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr248Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

19-50863050-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863050
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863050
    reference: chr 19
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7187G>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*299C>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13078G>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.711C>G
  hgvsp: ENST00000598915.1:c.711C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11562G>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1973C>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.738C>G
  hgvsp: ENST00000253719.2:c.738C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7187G>C
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29964
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3093
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro246Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

19-50863053-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863053
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863053
    reference: chr 19
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1970A>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.708A>T
  hgvsp: ENST00000598915.1:c.708A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7190T>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13075T>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7190T>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*296A>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11559T>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.735A>T
  hgvsp: ENST00000253719.2:c.735A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11528
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro245Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD

19-50863054-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863054
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863054
    reference: chr 19
allele count: 2
allele frequency: 1.649266900862567e-5
allele num: 121266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7191G>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13074G>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11558G>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.734C>A
  hgvsp: ENSP00000253719.1:p.Pro245Gln
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.707C>A
  hgvsp: ENSP00000469061.1:p.Pro236Gln
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7191G>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1969C>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*295C>A
  variant of: http://identifiers.org/hgnc/13395
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3092
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro245Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

19-50863057-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863057
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863057
    reference: chr 19
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*292T>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13071A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1966T>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.731T>C
  hgvsp: ENSP00000253719.1:p.Ile244Thr
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.704T>C
  hgvsp: ENSP00000469061.1:p.Ile235Thr
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11555A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7194A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7194A>G
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29952
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3388
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile244Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

19-50863060-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863060
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863060
    reference: chr 19
allele count: 9
allele frequency: 7.42219070081974e-5
allele num: 121258
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.701A>G
  hgvsp: ENSP00000469061.1:p.Tyr234Cys
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7197T>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.728A>G
  hgvsp: ENSP00000253719.1:p.Tyr243Cys
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11552T>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7197T>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13068T>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*289A>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1963A>G
  variant of: http://identifiers.org/hgnc/13395
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8424
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3389
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr243Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

19-50863066-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863066
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863066
    reference: chr 19
allele count: 2
allele frequency: 1.649729444371123e-5
allele num: 121232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*283C>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1957C>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.722C>T
  hgvsp: ENSP00000253719.1:p.Ala241Val
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7203G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7203G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13062G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.695C>T
  hgvsp: ENSP00000469061.1:p.Ala232Val
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11546G>A
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3093
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29949
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala241Val
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum

19-50863066-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863066
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863066
    reference: chr 19
allele count: 2
allele frequency: 1.649729444371123e-5
allele num: 121232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1957C>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*283C>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.695C>A
  hgvsp: ENSP00000469061.1:p.Ala232Glu
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.722C>A
  hgvsp: ENSP00000253719.1:p.Ala241Glu
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13062G>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7203G>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11546G>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7203G>T
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29949
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala241Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

19-50863068-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863068
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863068
    reference: chr 19
allele count: 4
allele frequency: 3.300057751010643e-5
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.693G>A
  hgvsp: ENST00000598915.1:c.693G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1955G>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13060C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7205C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7205C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*281G>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.720G>A
  hgvsp: ENST00000253719.2:c.720G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11544C>T
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4256
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3384
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4694
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro240Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

19-50863069-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863069
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863069
    reference: chr 19
allele count: 16
allele frequency: 1.3200666633665e-4
allele num: 121206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*280C>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7206G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.692C>T
  hgvsp: ENSP00000469061.1:p.Pro231Leu
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13059G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7206G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1954C>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.719C>T
  hgvsp: ENSP00000253719.1:p.Pro240Leu
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11543G>A
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10067
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5889
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4690
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3382
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11525
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro240Leu
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

19-50863073-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863073
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863073
    reference: chr 19
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*276G>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11539C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.688G>A
  hgvsp: ENSP00000469061.1:p.Asp230Asn
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.715G>A
  hgvsp: ENSP00000253719.1:p.Asp239Asn
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7210C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1950G>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13055C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7210C>T
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11469
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3092
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3380
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp239Asn
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

19-50863074-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863074
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863074
    reference: chr 19
allele count: 256
allele frequency: 2.112176366726622e-3
allele num: 121202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13054C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1949G>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7211C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*275G>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.687G>A
  hgvsp: ENST00000598915.1:c.687G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.714G>A
  hgvsp: ENST00000253719.2:c.714G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11538C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7211C>T
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8385
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5881
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 9.75e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 6.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 3369
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser238Ser
num of homozygotes: 4
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-50863075-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863075
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863075
    reference: chr 19
allele count: 3
allele frequency: 2.475329218786098e-5
allele num: 121196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13053G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.686C>T
  hgvsp: ENSP00000469061.1:p.Ser229Leu
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*274C>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7212G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.713C>T
  hgvsp: ENSP00000253719.1:p.Ser238Leu
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11537G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1948C>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7212G>A
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4649
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5090
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3376
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser238Leu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-50863077-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863077
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863077
    reference: chr 19
allele count: 5
allele frequency: 4.12657015994586e-5
allele num: 121166
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7214G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.684C>T
  hgvsp: ENST00000598915.1:c.684C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7214G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*272C>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1946C>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11535G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.711C>T
  hgvsp: ENST00000253719.2:c.711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13051G>A
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11430
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly237Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

19-50863077-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863077
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863078
    reference: chr 19
allele count: 2
allele frequency: 1.650628063978344e-5
allele num: 121166
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11529dupC
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7220dupC
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13045dupC
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*271dupG
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.710dupG
  hgvsp: ENSP00000253719.1:p.Ser238LeufsTer57
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.683dupG
  hgvsp: ENSP00000469061.1:p.Ser229LeufsTer?
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7220dupC
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1945dupG
  variant of: http://identifiers.org/hgnc/13395
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11430
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29949
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser238LeufsTer57
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

19-50863077-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863077
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863077
    reference: chr 19
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.711C>A
  hgvsp: ENST00000253719.2:c.711C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11535G>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13051G>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1946C>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7214G>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7214G>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.684C>A
  hgvsp: ENST00000598915.1:c.684C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*272C>A
  variant of: http://identifiers.org/hgnc/13395
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3373
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly237Gly
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum

http://identifiers.org/exac.variant/19-50863078-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863078
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863078
    reference: chr 19
allele count: 6
allele frequency: 4.952619935946116e-5
allele num: 121148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7215C>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*271G>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1945G>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7215C>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11534C>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.683G>T
  hgvsp: ENSP00000469061.1:p.Gly228Val
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.710G>T
  hgvsp: ENSP00000253719.1:p.Gly237Val
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13050C>A
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5094
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10031
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11372
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3096
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4679
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly237Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-50863081-CCCAGGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863081
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863075
    reference: chr 19
allele count: 22
allele frequency: 1.815690870376178e-4
allele num: 121166
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.674_679delTCCTGG
  hgvsp: ENSP00000469061.1:p.Val225_Leu226del
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.701_706delTCCTGG
  hgvsp: ENSP00000253719.1:p.Val234_Leu235del
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1936_1941delTCCTGG
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*262_*267delTCCTGG
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4681
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29956
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val234_Leu235del
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: CCCAGGA
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/19-50863094-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863094
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863094
    reference: chr 19
allele count: 1
allele frequency: 8.26296045347127e-6
allele num: 121022
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7231C>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1929G>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*255G>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.694G>T
  hgvsp: ENSP00000253719.1:p.Glu232Ter
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.667G>T
  hgvsp: ENSP00000469061.1:p.Glu223Ter
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7231C>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13034C>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11518C>A
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5082
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3364
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu232Ter
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

19-50863097-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863097
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863097
    reference: chr 19
allele count: 2
allele frequency: 1.654177625593436e-5
allele num: 120906
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.691G>C
  hgvsp: ENSP00000253719.1:p.Gly231Arg
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*252G>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11515C>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7234C>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.664G>C
  hgvsp: ENSP00000469061.1:p.Gly222Arg
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7234C>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1926G>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13031C>G
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5082
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9823
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3354
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29941
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Gly231Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

19-50863098-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863098
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863098
    reference: chr 19
allele count: 2
allele frequency: 1.654341820106871e-5
allele num: 120894
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7235T>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*251A>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.690A>T
  hgvsp: ENST00000253719.2:c.690A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1925A>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11514T>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.663A>T
  hgvsp: ENST00000598915.1:c.663A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7235T>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13030T>A
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10991
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly230Gly
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

19-50863100-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863100
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863100
    reference: chr 19
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7237C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*249G>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.688G>A
  hgvsp: ENSP00000253719.1:p.Gly230Arg
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1923G>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13028C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.661G>A
  hgvsp: ENSP00000469061.1:p.Gly221Arg
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7237C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11512C>T
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11094
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly230Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

19-50863101-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863101
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863101
    reference: chr 19
allele count: 8
allele frequency: 6.618352692014958e-5
allele num: 120876
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7238A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7238A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.660T>C
  hgvsp: ENST00000598915.1:c.660T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.687T>C
  hgvsp: ENST00000253719.2:c.687T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*248T>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1922T>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13027A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11511A>G
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4585
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11053
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp229Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

19-50863112-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863112
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863112
    reference: chr 19
allele count: 4
allele frequency: 3.321155762205247e-5
allele num: 120440
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1911G>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.676G>A
  hgvsp: ENSP00000253719.1:p.Glu226Lys
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7249C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.649G>A
  hgvsp: ENSP00000469061.1:p.Glu217Lys
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11500C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7249C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*237G>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13016C>T
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10491
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu226Lys
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

19-50863115-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863115
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863115
    reference: chr 19
allele count: 1
allele frequency: 8.324038157390913e-6
allele num: 120134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*234C>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11497G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7252G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.646C>T
  hgvsp: ENSP00000469061.1:p.Pro216Ser
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.673C>T
  hgvsp: ENSP00000253719.1:p.Pro225Ser
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13013G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1908C>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7252G>A
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29932
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3297
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro225Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

19-50863117-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863117
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863116
    reference: chr 19
allele count: 3
allele frequency: 2.497211447217274e-5
allele num: 120134
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.670delG
  hgvsp: ENSP00000253719.1:p.Asp224ThrfsTer42
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13008delC
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*231delG
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11492delC
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1905delG
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7257delC
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.643delG
  hgvsp: ENSP00000469061.1:p.Asp215ThrfsTer42
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7257delC
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6152
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3293
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp224ThrfsTer42
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: TC
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-50863125-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863125
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863125
    reference: chr 19
allele count: 7
allele frequency: 5.859603890776983e-5
allele num: 119462
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11487G>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.642-6C>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.669-6C>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*230-6C>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1904-6C>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7262G>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13003G>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7262G>C
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8614
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29927
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
hgvs: c.669-6C>G
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

19-50863126-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863126
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863126
    reference: chr 19
allele count: 1
allele frequency: 8.371142995864656e-6
allele num: 119458
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*230-7C>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-13002G>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11486G>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.669-7C>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.642-7C>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1904-7C>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7263G>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7263G>C
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5781
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1915
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29927
  bin: 9.75e1
  variant carriers: 1
hgvs: c.669-7C>G
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/19-50863132-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863132
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863132
    reference: chr 19
allele count: 31
allele frequency: 2.609383680409421e-4
allele num: 118802
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*230-13T>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7269A>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1904-13T>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-12996A>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.642-13T>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7269A>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11480A>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.669-13T>G
  variant of: http://identifiers.org/hgnc/13395
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7829
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7259
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8005
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29935
  bin: 9.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

19-50863135-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863135
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863135
    reference: chr 19
allele count: 4
allele frequency: 3.367853835143555e-5
allele num: 118770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1904-16C>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*230-16C>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.669-16C>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-12993G>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11477G>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7272G>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.642-16C>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7272G>T
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29918
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8267
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-50863136-TAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863136
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863134
    reference: chr 19
allele count: 1
allele frequency: 8.420768984623676e-6
allele num: 118754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7278_-585+7279delAG
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7278_-1133+7279delAG
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1904-19_1904-18delCT
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.669-19_669-18delCT
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*230-19_*230-18delCT
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-12987_-242-12986delAG
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.642-19_642-18delCT
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11471_150-11470delAG
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29915
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8324
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2716
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: TAG
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-50863138-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863138
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863138
    reference: chr 19
allele count: 1
allele frequency: 8.4199181583955e-6
allele num: 118766
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.669-19C>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7275G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-12990G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7275G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1904-19C>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.642-19C>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11474G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*230-19C>T
  variant of: http://identifiers.org/hgnc/13395
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7211
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3720
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2742
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3280
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

19-50863139-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863139
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863139
    reference: chr 19
allele count: 1
allele frequency: 8.419634587858886e-6
allele num: 118770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7276A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.642-20T>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1904-20T>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11473A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*230-20T>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7276A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-12989A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.669-20T>C
  variant of: http://identifiers.org/hgnc/13395
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2755
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8556
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-50863144-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863144
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863144
    reference: chr 19
allele count: 32
allele frequency: 2.702520099993244e-4
allele num: 118408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11468G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-12984G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1904-25C>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.642-25C>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*230-25C>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.669-25C>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7281G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7281G>A
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7134
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5321
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7334
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7594
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29936
  bin: 9.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 2885
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

19-50863146-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863146
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863146
    reference: chr 19
allele count: 1
allele frequency: 8.445517963616709e-6
allele num: 118406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.642-27T>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.669-27T>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7283A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7283A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-12982A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11466A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*230-27T>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1904-27T>C
  variant of: http://identifiers.org/hgnc/13395
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3282
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-50863153-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863153
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863153
    reference: chr 19
allele count: 1
allele frequency: 8.484066922319883e-6
allele num: 117868
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.669-34T>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1904-34T>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11459A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.642-34T>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-12975A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7290A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7290A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*230-34T>C
  variant of: http://identifiers.org/hgnc/13395
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4291
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3581
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3079
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3274
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

19-50863154-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863154
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863154
    reference: chr 19
allele count: 7
allele frequency: 5.941669778969884e-5
allele num: 117812
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-12974G>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7291G>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.642-35C>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7291G>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.669-35C>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*230-35C>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11458G>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1904-35C>A
  variant of: http://identifiers.org/hgnc/13395
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6970
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2088
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3583
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

19-50863170-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50863170
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50863170
    reference: chr 19
allele count: 1
allele frequency: 8.6071852782703e-6
allele num: 116182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*230-51G>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1904-51G>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+7307C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+7307C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-12958C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.642-51G>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.669-51G>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-11442C>T
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3133
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-50864147-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864147
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864147
    reference: chr 19
allele count: 1
allele frequency: 1.141682840506907e-5
allele num: 87590
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-11981C>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+8284C>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+8284C>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.641+51G>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-10465C>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*229+51G>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.668+51G>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1903+51G>T
  variant of: http://identifiers.org/hgnc/13395
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19350
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13995
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6091
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9313
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4202
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2940
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

19-50864154-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864154
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864154
    reference: chr 19
allele count: 1
allele frequency: 1.129407512818775e-5
allele num: 88542
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-10458T>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.641+44A>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+8291T>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1903+44A>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-11974T>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+8291T>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*229+44A>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.668+44A>G
  variant of: http://identifiers.org/hgnc/13395
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19205
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14016
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8676
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3627
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5040
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2707
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

19-50864156-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864156
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864157
    reference: chr 19
allele count: 3
allele frequency: 3.386998441980717e-5
allele num: 88574
alternate allele: CT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.668+41dupA
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+8295dupT
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1903+41dupA
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+8295dupT
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.641+41dupA
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-10454dupT
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-11970dupT
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*229+41dupA
  variant of: http://identifiers.org/hgnc/13395
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7398
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14096
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18932
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11285
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11795
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

19-50864162-GATAGGACTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864162
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864153
    reference: chr 19
allele count: 1
allele frequency: 1.114852059131753e-5
allele num: 89698
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  variant of: http://identifiers.org/hgnc/13395
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16830
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4780
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14069
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7501
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13441
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4749
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16214
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5565
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: GATAGGACTC
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-50864167-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864167
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864167
    reference: chr 19
allele count: 13
allele frequency: 1.42169728783902e-4
allele num: 91440
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-10445G>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*229+31C>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-11961G>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1903+31C>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+8304G>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+8304G>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.641+31C>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.668+31C>A
  variant of: http://identifiers.org/hgnc/13395
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14123
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20019
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 20292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13445
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 9.75e1
  variant carriers: 12
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

19-50864176-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864176
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864176
    reference: chr 19
allele count: 1
allele frequency: 1.034019232757729e-5
allele num: 96710
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+8313A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1903+22T>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+8313A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-11952A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*229+22T>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.641+22T>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-10436A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.668+22T>C
  variant of: http://identifiers.org/hgnc/13395
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11822
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11744
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28518
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

19-50864178-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864178
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864177
    reference: chr 19
allele count: 1
allele frequency: 1.01644609786343e-5
allele num: 98382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-11948delG
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.668+19delC
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+8317delG
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.641+19delC
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-10432delG
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*229+19delC
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1903+19delC
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+8317delG
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11031
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6780
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6934
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10998
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30807
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4001
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: AG
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/19-50864184-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864184
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864184
    reference: chr 19
allele count: 1
allele frequency: 9.667066238737867e-6
allele num: 103444
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-10428A>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*229+14T>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+8321A>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-11944A>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.641+14T>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+8321A>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.668+14T>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1903+14T>G
  variant of: http://identifiers.org/hgnc/13395
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4824
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ

19-50864187-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864187
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864187
    reference: chr 19
allele count: 1
allele frequency: 9.42684766214178e-6
allele num: 106080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-10425C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*229+11G>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.641+11G>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.668+11G>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-11941C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1903+11G>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+8324C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+8324C>T
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5071
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35818
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-50864190-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864190
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864190
    reference: chr 19
allele count: 1
allele frequency: 9.213702618534283e-6
allele num: 108534
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+8327C>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1903+8G>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.641+8G>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+8327C>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.668+8G>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*229+8G>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-11938C>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-10422C>A
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5254
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
hgvs: c.668+8G>T
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: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-50864190-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864190
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864190
    reference: chr 19
allele count: 1
allele frequency: 9.213702618534283e-6
allele num: 108534
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+8327C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1903+8G>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-10422C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.641+8G>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*229+8G>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.668+8G>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+8327C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-11938C>T
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5254
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1698
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 3.25e1
  variant carriers: 0
hgvs: c.668+8G>A
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-50864193-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864193
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864193
    reference: chr 19
allele count: 1
allele frequency: 8.997012991686761e-6
allele num: 111148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1903+5T>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+8330A>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-11935A>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*229+5T>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.668+5T>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.641+5T>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+8330A>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-10419A>C
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5081
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
hgvs: c.668+5T>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/19-50864196-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864196
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864195
    reference: chr 19
allele count: 37
allele frequency: 3.26791612937415e-4
allele num: 113222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+8335delC
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.668+1delG
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+8335delC
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*229+1delG
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-11930delC
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1903+1delG
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.641+1delG
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-10414delC
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39833
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9972
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5738
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4072
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
hgvs: c.668+1delG
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: AC
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

19-50864206-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864206
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864206
    reference: chr 19
allele count: 2
allele frequency: 1.698917789368173e-5
allele num: 117722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.633C>T
  hgvsp: ENST00000598915.1:c.633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-10406G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1895C>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+8343G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-11922G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+8343G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*221C>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.660C>T
  hgvsp: ENST00000253719.2:c.660C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000596653
  gene symbol: NAPSA
  hgvsc: ENST00000596653.1:n.1092C>T
  variant of: http://identifiers.org/hgnc/13395
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr220Tyr
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

19-50864223-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864223
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864223
    reference: chr 19
allele count: 1
allele frequency: 8.286239870071759e-6
allele num: 120682
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-11905G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+8360G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1878C>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-10389G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.616C>T
  hgvsp: ENSP00000469061.1:p.Pro206Ser
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000596653
  gene symbol: NAPSA
  hgvsc: ENST00000596653.1:n.1075C>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+8360G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.643C>T
  hgvsp: ENSP00000253719.1:p.Pro215Ser
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*204C>T
  variant of: http://identifiers.org/hgnc/13395
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6586
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro215Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

19-50864223-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864223
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864223
    reference: chr 19
allele count: 1
allele frequency: 8.286239870071759e-6
allele num: 120682
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.643C>G
  hgvsp: ENSP00000253719.1:p.Pro215Ala
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+8360G>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-10389G>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-11905G>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.616C>G
  hgvsp: ENSP00000469061.1:p.Pro206Ala
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000596653
  gene symbol: NAPSA
  hgvsc: ENST00000596653.1:n.1075C>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*204C>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1878C>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+8360G>C
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44610
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro215Ala
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

19-50864226-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864226
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864226
    reference: chr 19
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-10386T>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+8363T>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1875A>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.640A>G
  hgvsp: ENSP00000253719.1:p.Lys214Glu
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*201A>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.613A>G
  hgvsp: ENSP00000469061.1:p.Lys205Glu
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000596653
  gene symbol: NAPSA
  hgvsc: ENST00000596653.1:n.1072A>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-11902T>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+8363T>C
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys214Glu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/19-50864229-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864229
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864229
    reference: chr 19
allele count: 1
allele frequency: 8.263643275047103e-6
allele num: 121012
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-11899C>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1872G>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.610G>T
  hgvsp: ENSP00000469061.1:p.Asp204Tyr
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000596653
  gene symbol: NAPSA
  hgvsc: ENST00000596653.1:n.1069G>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+8366C>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.637G>T
  hgvsp: ENSP00000253719.1:p.Asp213Tyr
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+8366C>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*198G>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-10383C>A
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6634
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp213Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

19-50864229-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864229
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864229
    reference: chr 19
allele count: 1
allele frequency: 8.263643275047103e-6
allele num: 121012
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*198G>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000596653
  gene symbol: NAPSA
  hgvsc: ENST00000596653.1:n.1069G>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.610G>C
  hgvsp: ENSP00000469061.1:p.Asp204His
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-11899C>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+8366C>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-10383C>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+8366C>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1872G>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.637G>C
  hgvsp: ENSP00000253719.1:p.Asp213His
  variant of: http://identifiers.org/hgnc/13395
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44828
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp213His
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

19-50864232-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864232
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864232
    reference: chr 19
allele count: 1
allele frequency: 8.255729476256522e-6
allele num: 121128
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000596653
  gene symbol: NAPSA
  hgvsc: ENST00000596653.1:n.1066T>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.634T>C
  hgvsp: ENST00000253719.2:c.634T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1869T>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-11896A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-10380A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+8369A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*195T>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+8369A>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.607T>C
  hgvsp: ENST00000598915.1:c.607T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu212Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

19-50864239-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864239
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864239
    reference: chr 19
allele count: 16
allele frequency: 1.319652931279074e-4
allele num: 121244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+8376C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000596653
  gene symbol: NAPSA
  hgvsc: ENST00000596653.1:n.1059G>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.627G>A
  hgvsp: ENST00000253719.2:c.627G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.600G>A
  hgvsp: ENST00000598915.1:c.600G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*188G>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-10373C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-11889C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+8376C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1862G>A
  variant of: http://identifiers.org/hgnc/13395
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12308
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln209Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD

19-50864240-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864240
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864240
    reference: chr 19
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000596653
  gene symbol: NAPSA
  hgvsc: ENST00000596653.1:n.1058A>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-11888T>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*187A>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.599A>C
  hgvsp: ENSP00000469061.1:p.Gln200Pro
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1861A>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+8377T>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.626A>C
  hgvsp: ENSP00000253719.1:p.Gln209Pro
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+8377T>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-10372T>G
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12313
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln209Pro
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-50864247-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864247
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864247
    reference: chr 19
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*180G>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+8384C>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000596653
  gene symbol: NAPSA
  hgvsc: ENST00000596653.1:n.1051G>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+8384C>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1854G>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-11881C>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-10365C>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.619G>T
  hgvsp: ENSP00000253719.1:p.Val207Leu
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.592G>T
  hgvsp: ENSP00000469061.1:p.Val198Leu
  variant of: http://identifiers.org/hgnc/13395
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val207Leu
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

19-50864250-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864250
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864250
    reference: chr 19
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-11878G>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.589C>A
  hgvsp: ENSP00000469061.1:p.Leu197Met
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.616C>A
  hgvsp: ENSP00000253719.1:p.Leu206Met
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*177C>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1851C>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000596653
  gene symbol: NAPSA
  hgvsc: ENST00000596653.1:n.1048C>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-10362G>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+8387G>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+8387G>T
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu206Met
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

19-50864259-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864259
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864259
    reference: chr 19
allele count: 32
allele frequency: 2.636870035268137e-4
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1842A>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-11869T>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+8396T>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.580A>G
  hgvsp: ENSP00000469061.1:p.Met194Val
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*168A>G
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-10353T>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.607A>G
  hgvsp: ENSP00000253719.1:p.Met203Val
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+8396T>C
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000596653
  gene symbol: NAPSA
  hgvsc: ENST00000596653.1:n.1039A>G
  variant of: http://identifiers.org/hgnc/13395
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12367
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 6681
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met203Val
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

19-50864259-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864259
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864259
    reference: chr 19
allele count: 5
allele frequency: 4.120109430106464e-5
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1842A>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.607A>C
  hgvsp: ENSP00000253719.1:p.Met203Leu
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-10353T>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000596653
  gene symbol: NAPSA
  hgvsc: ENST00000596653.1:n.1039A>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.580A>C
  hgvsp: ENSP00000469061.1:p.Met194Leu
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*168A>C
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+8396T>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+8396T>G
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-11869T>G
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met203Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-50864260-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864260
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864260
    reference: chr 19
allele count: 3
allele frequency: 2.472065658063878e-5
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.606G>T
  hgvsp: ENST00000253719.2:c.606G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-10352C>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*167G>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.579G>T
  hgvsp: ENST00000598915.1:c.579G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+8397C>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-11868C>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+8397C>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000596653
  gene symbol: NAPSA
  hgvsc: ENST00000596653.1:n.1038G>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1841G>T
  variant of: http://identifiers.org/hgnc/13395
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6678
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro202Pro
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum

19-50864260-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864260
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864261
    reference: chr 19
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-10347dupG
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.578dupC
  hgvsp: ENSP00000469061.1:p.Met194AspfsTer12
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1840dupC
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-11863dupG
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.605dupC
  hgvsp: ENSP00000253719.1:p.Met203AspfsTer12
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000596653
  gene symbol: NAPSA
  hgvsc: ENST00000596653.1:n.1037dupC
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*166dupC
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+8402dupG
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+8402dupG
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met203AspfsTer12
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-50864260-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864260
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864260
    reference: chr 19
allele count: 4
allele frequency: 3.296087544085171e-5
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1841G>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.579G>A
  hgvsp: ENST00000598915.1:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*167G>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+8397C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.606G>A
  hgvsp: ENST00000253719.2:c.606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000472271
  ensembl transcript: ENST00000593532
  gene symbol: NR1H2
  hgvsc: ENST00000593532.1:c.-585+8397C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-10352C>T
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000596653
  gene symbol: NAPSA
  hgvsc: ENST00000596653.1:n.1038G>A
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-11868C>T
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro202Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

19-50864261-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50864261
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 50864261
    reference: chr 19
allele count: 2
allele frequency: 1.648070932972955e-5
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469763
  ensembl transcript: ENST00000599233
  gene symbol: NAPSA
  hgvsc: ENST00000599233.1:c.*166C>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000596653
  gene symbol: NAPSA
  hgvsc: ENST00000596653.1:n.1037C>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131400
  ensembl transcript: ENST00000599181
  gene symbol: NAPSA
  hgvsc: ENST00000599181.1:n.1840C>T
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000253719
  ensembl transcript: ENST00000253719
  gene symbol: NAPSA
  hgvsc: ENST00000253719.2:c.605C>T
  hgvsp: ENSP00000253719.1:p.Pro202Leu
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000473099
  ensembl transcript: ENST00000600355
  gene symbol: NR1H2
  hgvsc: ENST00000600355.1:c.-242-11867G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl transcript: ENST00000600978
  gene symbol: NR1H2
  hgvsc: ENST00000600978.1:n.150-10351G>A
  variant of: http://identifiers.org/hgnc/7965
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131400
  ensembl protein: ENSP00000469061
  ensembl transcript: ENST00000598915
  gene symbol: NAPSA
  hgvsc: ENST00000598915.1:c.578C>T
  hgvsp: ENSP00000469061.1:p.Pro193Leu
  variant of: http://identifiers.org/hgnc/13395
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131408
  ensembl protein: ENSP00000445074
  ensembl transcript: ENST00000542413
  gene symbol: NR1H2
  hgvsc: ENST00000542413.1:c.-1133+8398G>A
  variant of: http://identifiers.org/hgnc/7965
canonical: true
consequence: missense
filter: PASS
hgvs: p.Pro202Leu
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3368
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3094
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3393
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11423
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4690
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1928
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66620
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
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: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.25e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

FS
type: SiteQuality
SIO_000300: 5.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-2

QD
type: SiteQuality
SIO_000300: 1.31e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

DP
type: SiteQuality
SIO_000300: 2.675139e6

GenotypeQuality
all individuals: 4692
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2413
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29971
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1929
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3369
bin: 8.25e1
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: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001831116981359e-5
allele num: 66626
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: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.115e0

VQSLOD
type: SiteQuality
SIO_000300: 3.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e0

DP
type: SiteQuality
SIO_000300: 2.674968e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

QD
type: SiteQuality
SIO_000300: 1.448e1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

MQ
type: SiteQuality
SIO_000300: 5.593e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29968
bin: 9.75e1
variant carriers: 7

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

GenotypeQuality
all individuals: 3371
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3095
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4692
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1929
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2418
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3394
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11469
bin: 6.25e1
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: 16504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.05057781779979e-4
allele num: 66630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.292e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

MQRankSum
type: SiteQuality
SIO_000300: 1.93e0

QD
type: SiteQuality
SIO_000300: 1.141e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 5.48e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

DP
type: SiteQuality
SIO_000300: 2.67478e6

GenotypeQuality
all individuals: 3095
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29967
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4691
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11456
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2416
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3393
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 10386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.067e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

VQSLOD
type: SiteQuality
SIO_000300: -7.492e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e-1

DP
type: SiteQuality
SIO_000300: 2.674487e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.856e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.47e-1

MQ
type: SiteQuality
SIO_000300: 5.64e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 2.489e1

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

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3388
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2425
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3367
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11527
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4701
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.107e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.289e0

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.78e-1

FS
type: SiteQuality
SIO_000300: 2.34e0

MQ
type: SiteQuality
SIO_000300: 5.486e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.859e-1

DP
type: SiteQuality
SIO_000300: 2.67493e6

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

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

GenotypeQuality
all individuals: 29958
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4683
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3387
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1929
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3090
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.815e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -9.995000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

DP
type: SiteQuality
SIO_000300: 2.675141e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.04e-1

FS
type: SiteQuality
SIO_000300: 1.343e0

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-1

MQ
type: SiteQuality
SIO_000300: 5.721e1

QD
type: SiteQuality
SIO_000300: 1.275e1

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4698
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29954
bin: 9.75e1
variant carriers: 2

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

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

GenotypeQuality
all individuals: 2424
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3389
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11591
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 10392
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.024e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.052e1

MQ
type: SiteQuality
SIO_000300: 5.536e1

DP
type: SiteQuality
SIO_000300: 2.675003e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.912e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.88e-1

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3366
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11587
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4694
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3092
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2424
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1927
bin: 8.75e1
variant carriers: 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: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
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: 11576
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.25e0

DP
type: SiteQuality
SIO_000300: 2.674854e6

VQSLOD
type: SiteQuality
SIO_000300: 1.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 1.288e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.449e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.28e-1

MQ
type: SiteQuality
SIO_000300: 5.891e1

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

GenotypeQuality
all individuals: 4694
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3092
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1927
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3365
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11594
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.350621285791464e-4
allele num: 66636
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11576
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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South Asian
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allele frequency: 0.0e0
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QD
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VQSLOD
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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FS
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DP
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BaseQRankSum
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SIO_000300: 2.88e0

MQ
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.001831116981359e-5
allele num: 66626
num of homozygotes: 0

QD
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MQ
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
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allele frequency: 1.214329083181542e-4
allele num: 16470
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -1.487e0

MQ
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.82e-1

InbreedingCoeff
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FS
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DP
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MQRankSum
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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Latino
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allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.503422601176894e-5
allele num: 66616
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.45e-1

MQ
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ReadPosRankSum
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VQSLOD
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QD
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 1.784e0

DP
type: SiteQuality
SIO_000300: 2.673811e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.51e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 2
allele frequency: 1.215066828675577e-4
allele num: 16460
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 7.699711260827719e-4
allele num: 10390
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.503693028283192e-5
allele num: 66612
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

ReadPosRankSum
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FS
type: SiteQuality
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MQRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.861e1

InbreedingCoeff
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QD
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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allele count: 0
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European (Non-Finnish)
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allele count: 1
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allele num: 66610
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African
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Latino
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East Asian
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European (Finnish)
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ReadPosRankSum
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FS
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InbreedingCoeff
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DP
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ClippingRankSum
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MQ
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MQRankSum
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QD
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 904
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Latino
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allele frequency: 6.046993780234969e-4
allele num: 11576
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African
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allele frequency: 2.338337182448037e-2
allele num: 10392
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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allele frequency: 6.004924037710923e-5
allele num: 66612
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MQ
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ClippingRankSum
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VQSLOD
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DP
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InbreedingCoeff
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FS
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QD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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allele num: 11576
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East Asian
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South Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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MQ
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FS
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QD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 11578
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European (Non-Finnish)
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allele num: 66584
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African
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European (Finnish)
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South Asian
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Other
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East Asian
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DP
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QD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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MQ
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FS
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 1.215953307392996e-4
allele num: 16448
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

DP
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ReadPosRankSum
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InbreedingCoeff
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FS
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SIO_000300: 5.3e-1

MQRankSum
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QD
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BaseQRankSum
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MQ
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 904
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Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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InbreedingCoeff
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QD
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VQSLOD
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MQ
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

DP
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FS
type: SiteQuality
SIO_000300: 5.3e-1

MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66580
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African
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Other
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Latino
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allele num: 11578
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BaseQRankSum
type: SiteQuality
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VQSLOD
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DP
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ClippingRankSum
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MQRankSum
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FS
type: SiteQuality
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MQ
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 4.318535152876144e-4
allele num: 11578
num of homozygotes: 0

East Asian
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European (Non-Finnish)
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allele count: 6
allele frequency: 9.009550123130518e-5
allele num: 66596
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African
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South Asian
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Other
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allele num: 904
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 5.51e-1

QD
type: SiteQuality
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DP
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.85e-1

VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.502855425308085e-5
allele num: 66540
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

MQ
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ReadPosRankSum
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QD
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DP
type: SiteQuality
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BaseQRankSum
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SIO_000300: -2.186e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66502
num of homozygotes: 0

South Asian
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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QD
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FS
type: SiteQuality
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MQ
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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East Asian
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Other
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South Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 0.0e0
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FS
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ReadPosRankSum
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QD
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MQ
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InbreedingCoeff
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DP
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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Latino
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allele num: 11576
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African
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East Asian
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South Asian
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Other
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BaseQRankSum
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MQRankSum
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MQ
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DP
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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FS
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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Latino
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South Asian
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African
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European (Finnish)
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Other
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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ClippingRankSum
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ReadPosRankSum
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DP
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MQRankSum
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.02571860816944e-4
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.015317814497648e-5
allele num: 66328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.496e0

QD
type: SiteQuality
SIO_000300: 1.143e1

DP
type: SiteQuality
SIO_000300: 2.649027e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.44e-1

FS
type: SiteQuality
SIO_000300: 5.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.510163399679845e-5
allele num: 66218
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15836
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.49e-1

QD
type: SiteQuality
SIO_000300: 1.286e1

MQ
type: SiteQuality
SIO_000300: 5.87e1

MQRankSum
type: SiteQuality
SIO_000300: -1.524e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.852e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.8e-1

DP
type: SiteQuality
SIO_000300: 2.64087e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15832
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: 896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
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allele count: 3
allele frequency: 2.895752895752896e-4
allele num: 10360
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: 66216
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.640412e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 9.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.261e1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: 7.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.052222030088189e-4
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66028
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.91e-1

QD
type: SiteQuality
SIO_000300: 9.970000000000001e0

DP
type: SiteQuality
SIO_000300: 2.621917e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.473e0

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.832e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.78e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 69
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GenotypeQuality
all individuals: 3268
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
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: 1
allele frequency: 1.514508996183437e-5
allele num: 66028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: 4.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.439e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.292e0

QD
type: SiteQuality
SIO_000300: 9.91e0

FS
type: SiteQuality
SIO_000300: 3.301e0

MQRankSum
type: SiteQuality
SIO_000300: 8.84e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.621653e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 199
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variant carriers: 0

African
type: Population
allele count: 31
allele frequency: 3.006206361520559e-3
allele num: 10312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.933e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.995e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-2

FS
type: SiteQuality
SIO_000300: 1.329e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.206e1

DP
type: SiteQuality
SIO_000300: 2.597879e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.939864209505335e-4
allele num: 10310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519064256418047e-5
allele num: 65830
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

Other
type: Population
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allele num: 890
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MQRankSum
type: SiteQuality
SIO_000300: 7.01e-1

FS
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MQ
type: SiteQuality
SIO_000300: 5.933e1

VQSLOD
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ClippingRankSum
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SIO_000300: -5.620000000000001e-1

ReadPosRankSum
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SIO_000300: 3.04e-1

DP
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SIO_000300: 2.596387e6

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.436e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.693679720822024e-5
allele num: 10316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65826
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 888
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14916
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.596001e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 6.39e0

QD
type: SiteQuality
SIO_000300: 1.921e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

InbreedingCoeff
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SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 30
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65826
num of homozygotes: 0

European (Finnish)
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allele count: 0
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African
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allele frequency: 9.697439875872769e-5
allele num: 10312
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
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Other
type: Population
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East Asian
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QD
type: SiteQuality
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VQSLOD
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ClippingRankSum
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DP
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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FS
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.189e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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European (Non-Finnish)
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East Asian
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African
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allele num: 10314
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Other
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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FS
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QD
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MQ
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MQRankSum
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DP
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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European (Non-Finnish)
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DP
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VQSLOD
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FS
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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allele num: 65694
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Other
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Latino
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allele frequency: 0.0e0
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African
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East Asian
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South Asian
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VQSLOD
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BaseQRankSum
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FS
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MQ
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DP
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QD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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Other
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Latino
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African
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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DP
type: SiteQuality
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BaseQRankSum
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MQ
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VQSLOD
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FS
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8624
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 2.597852441981296e-4
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.050640634533252e-5
allele num: 65560
num of homozygotes: 0

South Asian
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allele frequency: 1.39703827884884e-4
allele num: 14316
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Other
type: Population
allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: 5.41e-1

VQSLOD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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DP
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MQ
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65072
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South Asian
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allele num: 13316
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Latino
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East Asian
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Other
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African
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allele frequency: 0.0e0
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European (Finnish)
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DP
type: SiteQuality
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InbreedingCoeff
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MQ
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ReadPosRankSum
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QD
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FS
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MQRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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East Asian
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Other
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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BaseQRankSum
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DP
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VQSLOD
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MQ
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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FS
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

Other
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Latino
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BaseQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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QD
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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Latino
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Other
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European (Non-Finnish)
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African
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East Asian
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ClippingRankSum
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InbreedingCoeff
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MQ
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QD
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VQSLOD
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MQRankSum
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DP
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BaseQRankSum
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2478
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.483909594372101e-5
allele num: 13362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49654
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.28e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.387e0

MQ
type: SiteQuality
SIO_000300: 4.892e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.799e0

DP
type: SiteQuality
SIO_000300: 9.69203e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2931
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.428571428571429e-3
allele num: 700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 2.371635242499703e-4
allele num: 50598
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

DP
type: SiteQuality
SIO_000300: 1.020833e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.77e-1

FS
type: SiteQuality
SIO_000300: 2.995e0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

QD
type: SiteQuality
SIO_000300: 1.182e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3785
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6280
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.868460388639761e-5
allele num: 53520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5736
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e-1

MQ
type: SiteQuality
SIO_000300: 5.901e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.56e0

VQSLOD
type: SiteQuality
SIO_000300: -2.356e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

QD
type: SiteQuality
SIO_000300: 8.6e0

DP
type: SiteQuality
SIO_000300: 1.132638e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.563966218329684e-4
allele num: 6394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5802
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8848
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54450
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

FS
type: SiteQuality
SIO_000300: 2.049e0

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.16e0

MQ
type: SiteQuality
SIO_000300: 6.119e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.160808e6

QD
type: SiteQuality
SIO_000300: 8.98e0

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1810
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5968
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.751252145283878e-5
allele num: 57102
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9198
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.215e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e-1

QD
type: SiteQuality
SIO_000300: 8.9e0

MQRankSum
type: SiteQuality
SIO_000300: -1.562e0

DP
type: SiteQuality
SIO_000300: 1.232625e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

FS
type: SiteQuality
SIO_000300: 3.31e0

VQSLOD
type: SiteQuality
SIO_000300: -1.779e0

MQ
type: SiteQuality
SIO_000300: 5.747e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 447
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GenotypeQuality
all individuals: 7520
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9372
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.091941471937104e-4
allele num: 9158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6074
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6988
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.647e0

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.73e-1

QD
type: SiteQuality
SIO_000300: 1.369e1

VQSLOD
type: SiteQuality
SIO_000300: -2.832e-1

DP
type: SiteQuality
SIO_000300: 1.268484e6

MQ
type: SiteQuality
SIO_000300: 5.879e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.394e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9566
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.492663290481755e-5
allele num: 15402
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6170
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.298646e6

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.017e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.546e0

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
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allele count: 1
allele frequency: 1.387347391786903e-4
allele num: 7208
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9566
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59820
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6170
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

MQRankSum
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.298646e6

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6288
num of homozygotes: 0

African
type: Population
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allele frequency: 1.030290541932825e-4
allele num: 9706
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Other
type: Population
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7510
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61218
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15638
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.175e0

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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MQ
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InbreedingCoeff
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QD
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BaseQRankSum
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VQSLOD
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 37
allele frequency: 3.738884397736459e-3
allele num: 9896
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7700
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62270
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 15826
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

FS
type: SiteQuality
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ReadPosRankSum
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QD
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DP
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MQRankSum
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InbreedingCoeff
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SIO_000300: -1.1e-3

MQ
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SIO_000300: 5.908e1

VQSLOD
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BaseQRankSum
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SIO_000300: 2.31e-1

ClippingRankSum
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16282
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African
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allele frequency: 9.811616954474098e-5
allele num: 10192
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11078
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.548083472660846e-5
allele num: 64596
num of homozygotes: 0

QD
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FS
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InbreedingCoeff
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MQ
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BaseQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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ClippingRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66256
num of homozygotes: 0

African
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allele frequency: 9.656237929702588e-5
allele num: 10356
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6598
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South Asian
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allele frequency: 0.0e0
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Other
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

MQ
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SIO_000300: 5.78e1

ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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QD
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DP
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.167406023815083e-4
allele num: 8566
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: 10356
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66256
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 4.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

QD
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.78e1

MQRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

VQSLOD
type: SiteQuality
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DP
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SIO_000300: 1.452597e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506568639267205e-5
allele num: 66376
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.04e-1

BaseQRankSum
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
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MQ
type: SiteQuality
SIO_000300: 5.722e1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 5.6e-3

DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66468
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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Other
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num of homozygotes: 0

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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MQ
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VQSLOD
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FS
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QD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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num of homozygotes: 0

Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.504483360414034e-5
allele num: 66468
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VQSLOD
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QD
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DP
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InbreedingCoeff
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MQ
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FS
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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European (Non-Finnish)
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South Asian
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East Asian
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Latino
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Other
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QD
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MQ
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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FS
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DP
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

Latino
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European (Finnish)
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Other
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East Asian
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allele frequency: 1.850994909763998e-3
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European (Non-Finnish)
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African
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ClippingRankSum
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DP
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MQRankSum
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BaseQRankSum
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SIO_000300: -1.736e0

FS
type: SiteQuality
SIO_000300: 7.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

MQ
type: SiteQuality
SIO_000300: 5.817e1

QD
type: SiteQuality
SIO_000300: 1.411e1

VQSLOD
type: SiteQuality
SIO_000300: -1.606e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
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: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.12e-1

DP
type: SiteQuality
SIO_000300: 1.460768e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.908e1

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

FS
type: SiteQuality
SIO_000300: 2.139e0

QD
type: SiteQuality
SIO_000300: 1.184e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.745e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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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: 904
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: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

DP
type: SiteQuality
SIO_000300: 1.461738e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.437e0

QD
type: SiteQuality
SIO_000300: 1.399e1

MQ
type: SiteQuality
SIO_000300: 5.702e1

MQRankSum
type: SiteQuality
SIO_000300: -4.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.947e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2310
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
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: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
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: 10392
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.46196e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.22e-1

FS
type: SiteQuality
SIO_000300: 1.194e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.563e-1

MQ
type: SiteQuality
SIO_000300: 5.866e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.659e0

QD
type: SiteQuality
SIO_000300: 1.277e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 32

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 904
num of homozygotes: 0

African
type: Population
allele count: 31
allele frequency: 2.982489898018087e-3
allele num: 10394
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

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: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.139999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.847e0

DP
type: SiteQuality
SIO_000300: 1.464148e6

QD
type: SiteQuality
SIO_000300: 1.295e1

FS
type: SiteQuality
SIO_000300: 6.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

MQ
type: SiteQuality
SIO_000300: 5.314e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
all individuals: 11
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
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: 16510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.847e0

VQSLOD
type: SiteQuality
SIO_000300: -8.139999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

FS
type: SiteQuality
SIO_000300: 6.24e-1

QD
type: SiteQuality
SIO_000300: 1.295e1

MQ
type: SiteQuality
SIO_000300: 5.314e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.464148e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
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: 66710
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Latino
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allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
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DP
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 4.0e-4

QD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.707e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.707e0

FS
type: SiteQuality
SIO_000300: 2.407e0

MQ
type: SiteQuality
SIO_000300: 5.784e1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.44e-1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-1

FS
type: SiteQuality
SIO_000300: 2.407e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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