http://identifiers.org/exac.variant/16-2161921-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2161921
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2161921
    reference: chr 16
allele count: 5
allele frequency: 5.101624357195331e-5
allele num: 98008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.178-49G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.310+420G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.430+420G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.246-49G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-3562G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.773+420G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.790+420G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.421+420G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3296-49G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3296-49G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1623+420G>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13854
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6524
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14396
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12263
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8571
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-2161922-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2161922
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2161922
    reference: chr 16
allele count: 1
allele frequency: 1.02013751453696e-5
allele num: 98026
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3296-50G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-3563G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.246-50G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.773+419G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.421+419G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.178-50G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.790+419G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.310+419G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.430+419G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3296-50G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1623+419G>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12307
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13832
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

16-2162291-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162291
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162291
    reference: chr 16
allele count: 2
allele frequency: 3.081759068076058e-5
allele num: 64898
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.177+50G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.310+50G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1623+50G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.773+50G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-3932G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.430+50G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.790+50G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3295+50G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.245+50G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3295+50G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.421+50G>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6987
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16498
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18625
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4473
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

16-2162292-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162292
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162292
    reference: chr 16
allele count: 6
allele frequency: 9.219138932423711e-5
allele num: 65082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.245+49C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.310+49C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.430+49C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.177+49C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1623+49C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.773+49C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-3933C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3295+49C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3295+49C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.790+49C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.421+49C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18618
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14274
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

16-2162294-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162294
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162294
    reference: chr 16
allele count: 1
allele frequency: 1.532707988474036e-5
allele num: 65244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.421+47C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1623+47C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3295+47C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-3935C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.430+47C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3295+47C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.177+47C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.245+47C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.310+47C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.773+47C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.790+47C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18642
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15502
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

16-2162299-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162299
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162299
    reference: chr 16
allele count: 2
allele frequency: 3.044974269967419e-5
allele num: 65682
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3295+42C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.430+42C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.245+42C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.790+42C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3295+42C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.773+42C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-3940C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.177+42C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1623+42C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.310+42C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.421+42C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16081
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18843
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/16-2162303-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162303
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162303
    reference: chr 16
allele count: 1
allele frequency: 1.512813530604218e-5
allele num: 66102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.790+38G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.177+38G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.773+38G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1623+38G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.310+38G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3295+38G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-3944G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3295+38G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.421+38G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.430+38G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.245+38G>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15406
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4293
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

16-2162305-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162305
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162305
    reference: chr 16
allele count: 1
allele frequency: 1.509069507741527e-5
allele num: 66266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.430+36C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3295+36C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.773+36C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.245+36C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.310+36C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-3946C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.421+36C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3295+36C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.177+36C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.790+36C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1623+36C>G
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14946
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7894
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4357
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

16-2162305-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162305
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162305
    reference: chr 16
allele count: 11
allele frequency: 1.659976458515679e-4
allele num: 66266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.773+36C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.310+36C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3295+36C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3295+36C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.245+36C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-3946C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.421+36C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1623+36C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.177+36C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.430+36C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.790+36C>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14946
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 18959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 1
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-2162312-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162312
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162312
    reference: chr 16
allele count: 3
allele frequency: 4.444444444444445e-5
allele num: 67500
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3295+29T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.790+29T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.310+29T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.773+29T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3295+29T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-3953T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.421+29T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.177+29T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.245+29T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.430+29T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1623+29T>C
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13327
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10498
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18922
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS

http://identifiers.org/exac.variant/16-2162317-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162317
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162317
    reference: chr 16
allele count: 2
allele frequency: 2.942128335638e-5
allele num: 67978
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.773+24G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3295+24G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.177+24G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.245+24G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.430+24G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1623+24G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-3958G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.790+24G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3295+24G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.421+24G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.310+24G>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4001
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12395
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

16-2162319-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162319
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162319
    reference: chr 16
allele count: 4
allele frequency: 5.806357961968355e-5
allele num: 68890
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.430+22G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.310+22G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.245+22G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.177+22G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3295+22G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-3960G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3295+22G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.790+22G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.773+22G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.421+22G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1623+22G>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12034
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD

16-2162320-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162320
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162320
    reference: chr 16
allele count: 11
allele frequency: 1.589825119236884e-4
allele num: 69190
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3295+21G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-3961G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.245+21G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.430+21G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.773+21G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.310+21G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3295+21G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.790+21G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.421+21G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.177+21G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1623+21G>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18446
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12535
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11801
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

16-2162321-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162321
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162321
    reference: chr 16
allele count: 7
allele frequency: 1.007252215954875e-4
allele num: 69496
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.421+20G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-3962G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.430+20G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.773+20G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.310+20G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.177+20G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1623+20G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3295+20G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.790+20G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.245+20G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3295+20G>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11583
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18346
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12886
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

16-2162323-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162323
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162323
    reference: chr 16
allele count: 1
allele frequency: 1.426899917239805e-5
allele num: 70082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.430+18G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3295+18G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-3964G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.310+18G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.773+18G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.245+18G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.421+18G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1623+18G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3295+18G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.790+18G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.177+18G>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11030
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3514
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

16-2162325-CCCCCTCAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162325
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162317
    reference: chr 16
allele count: 1
allele frequency: 1.414507185696503e-5
allele num: 70696
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17895
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10529
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14481
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
hgvs: c.3295+8_3295+15delATGAGGGG
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: CCCCCTCAT
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: DP

16-2162329-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162329
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162328
    reference: chr 16
allele count: 1
allele frequency: 1.388194791493142e-5
allele num: 72036
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-3971delA
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.790+11delA
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3295+11delA
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.430+11delA
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.773+11delA
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.177+11delA
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3295+11delA
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.421+11delA
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.310+11delA
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.245+11delA
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1623+11delA
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9596
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: CT
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

16-2162331-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162331
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162331
    reference: chr 16
allele count: 1
allele frequency: 1.372570550126276e-5
allele num: 72856
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.430+10G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.177+10G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.790+10G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3295+10G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.773+10G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1623+10G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-3972G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.310+10G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.421+10G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3295+10G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.245+10G>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9134
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/16-2162338-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162338
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162338
    reference: chr 16
allele count: 5
allele frequency: 6.642929266089175e-5
allele num: 75268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.421+3G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.773+3G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3295+3G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.790+3G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.310+3G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1623+3G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.3C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.245+3G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.177+3G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3295+3G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.430+3G>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-3979G>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7753
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18957
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.3295+3G>T
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

16-2162346-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162346
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162346
    reference: chr 16
allele count: 1
allele frequency: 1.287664177182591e-5
allele num: 77660
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3290C>T
  hgvsp: ENSP00000262304.4:p.Ala1097Val
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.11G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.785C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3290C>T
  hgvsp: ENSP00000399501.1:p.Ala1097Val
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1618C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.768C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.172C>T
  hgvsp: ENSP00000456670.1:p.Ala58Val
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.240C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.416C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-3987C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.305C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.425C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1097Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD

16-2162351-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162351
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162351
    reference: chr 16
allele count: 4
allele frequency: 5.024620641141594e-5
allele num: 79608
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.763C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.167C>T
  hgvsp: ENST00000483024.1:c.167C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.411C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3285C>T
  hgvsp: ENST00000262304.4:c.3285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3285C>T
  hgvsp: ENST00000423118.1:c.3285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.16G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.235C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1613C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.780C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.300C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.420C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-3992C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 22601
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr1095Tyr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

16-2162355-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162355
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162355
    reference: chr 16
allele count: 4
allele frequency: 4.963518141658808e-5
allele num: 80588
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.231C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.296C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.20G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1609C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3281C>G
  hgvsp: ENSP00000262304.4:p.Thr1094Ser
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.163C>G
  hgvsp: ENSP00000456670.1:p.Thr55Ser
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3281C>G
  hgvsp: ENSP00000399501.1:p.Thr1094Ser
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.759C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.407C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-3996C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.416C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.776C>G
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr1094Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

16-2162357-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162357
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162357
    reference: chr 16
allele count: 1
allele frequency: 1.2393416617093e-5
allele num: 80688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1607C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3279C>T
  hgvsp: ENST00000262304.4:c.3279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-3998C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.161C>T
  hgvsp: ENST00000483024.1:c.161C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.294C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.774C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3279C>T
  hgvsp: ENST00000423118.1:c.3279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.22G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.757C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.405C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.414C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.229C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His1093His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

16-2162359-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162359
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162359
    reference: chr 16
allele count: 54
allele frequency: 6.72243800418285e-4
allele num: 80328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.227C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.412C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.159C>T
  hgvsp: ENSP00000456670.1:p.His54Tyr
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1605C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3277C>T
  hgvsp: ENSP00000399501.1:p.His1093Tyr
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.772C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3277C>T
  hgvsp: ENSP00000262304.4:p.His1093Tyr
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.24G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.292C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.403C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4000C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.755C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14243
  bin: 7.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 2.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 21902
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 1.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
hgvs: p.His1093Tyr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

16-2162360-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162360
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162360
    reference: chr 16
allele count: 1
allele frequency: 1.240787155371368e-5
allele num: 80594
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3276G>C
  hgvsp: ENSP00000399501.1:p.Met1092Ile
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.158G>C
  hgvsp: ENSP00000456670.1:p.Met53Ile
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.754G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3276G>C
  hgvsp: ENSP00000262304.4:p.Met1092Ile
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.402G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.771G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.226G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.291G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.411G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4001G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.25C>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1604G>C
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1092Ile
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

16-2162361-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162361
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162361
    reference: chr 16
allele count: 6086
allele frequency: 7.513209224235841e-2
allele num: 81004
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.770T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.753T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3275T>C
  hgvsp: ENSP00000262304.4:p.Met1092Thr
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.225T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.157T>C
  hgvsp: ENSP00000456670.1:p.Met53Thr
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.410T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.26A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3275T>C
  hgvsp: ENSP00000399501.1:p.Met1092Thr
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.290T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1603T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.401T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4002T>C
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 1.75e1
  variant carriers: 1530
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 12366
  bin: 7.5e0
  variant carriers: 888
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 2.5e0
  variant carriers: 271
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 21267
  bin: 2.25e1
  variant carriers: 1053
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.75e1
  variant carriers: 783
genotype depth: GenotypeDepth
  all individuals: 7007
  bin: 1.25e1
  variant carriers: 1314
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 2.75e1
  variant carriers: 547
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 3.25e1
  variant carriers: 238
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
hgvs: p.Met1092Thr
num of homozygotes: 325
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

16-2162366-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162366
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162366
    reference: chr 16
allele count: 1
allele frequency: 1.260493609297401e-5
allele num: 79334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.152T>A
  hgvsp: ENSP00000456670.1:p.Asn51Lys
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.396T>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.765T>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.31A>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3270T>A
  hgvsp: ENSP00000399501.1:p.Asn1090Lys
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1598T>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.220T>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4007T>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.285T>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.405T>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3270T>A
  hgvsp: ENSP00000262304.4:p.Asn1090Lys
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.748T>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn1090Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

16-2162367-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162367
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162367
    reference: chr 16
allele count: 9
allele frequency: 1.134902020125596e-4
allele num: 79302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.395A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.404A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1597A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.764A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.151A>G
  hgvsp: ENSP00000456670.1:p.Asn51Ser
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.219A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3269A>G
  hgvsp: ENSP00000262304.4:p.Asn1090Ser
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3269A>G
  hgvsp: ENSP00000399501.1:p.Asn1090Ser
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.747A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.32T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4008A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.284A>G
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8448
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19111
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn1090Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

16-2162369-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162369
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162369
    reference: chr 16
allele count: 17
allele frequency: 2.160705661048832e-4
allele num: 78678
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1595C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.282C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.393C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3267C>T
  hgvsp: ENST00000262304.4:c.3267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.34G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.745C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3267C>T
  hgvsp: ENST00000423118.1:c.3267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.149C>T
  hgvsp: ENST00000483024.1:c.149C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.762C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4010C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.217C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.402C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18369
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14780
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8939
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His1089His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

16-2162380-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162380
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162380
    reference: chr 16
allele count: 2
allele frequency: 2.647954455183371e-5
allele num: 75530
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.382C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3256C>T
  hgvsp: ENST00000423118.1:c.3256C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.271C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.206C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.391C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3256C>T
  hgvsp: ENST00000262304.4:c.3256C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.138C>T
  hgvsp: ENST00000483024.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1584C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.751C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4021C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.45G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.734C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12070
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1086Leu
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

16-2162380-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162380
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162380
    reference: chr 16
allele count: 10
allele frequency: 1.323977227591685e-4
allele num: 75530
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.271C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3256C>G
  hgvsp: ENSP00000262304.4:p.Leu1086Val
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.138C>G
  hgvsp: ENSP00000456670.1:p.Leu47Val
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.45G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1584C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3256C>G
  hgvsp: ENSP00000399501.1:p.Leu1086Val
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.206C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.391C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.751C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4021C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.734C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.382C>G
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12070
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu1086Val
num of homozygotes: 1
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-2162381-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162381
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162381
    reference: chr 16
allele count: 2
allele frequency: 2.693167434219385e-5
allele num: 74262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4022G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.137G>A
  hgvsp: ENST00000483024.1:c.137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3255G>A
  hgvsp: ENST00000423118.1:c.3255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.381G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.46C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1583G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.270G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.733G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.390G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3255G>A
  hgvsp: ENST00000262304.4:c.3255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.205G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.750G>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13313
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1085Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

16-2162385-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162385
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162385
    reference: chr 16
allele count: 2
allele frequency: 2.715325295970457e-5
allele num: 73656
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.746A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3251A>G
  hgvsp: ENSP00000262304.4:p.Gln1084Arg
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3251A>G
  hgvsp: ENSP00000399501.1:p.Gln1084Arg
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1579A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.266A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.50T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.201A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.386A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.133A>G
  hgvsp: ENSP00000456670.1:p.Gln45Arg
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.729A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4026A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.377A>G
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11213
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln1084Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

16-2162394-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162394
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162394
    reference: chr 16
allele count: 105
allele frequency: 1.509010951108045e-3
allele num: 69582
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4035C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3242C>T
  hgvsp: ENSP00000399501.1:p.Ser1081Leu
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.720C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.737C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3242C>T
  hgvsp: ENSP00000262304.4:p.Ser1081Leu
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.59G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.257C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1570C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.124C>T
  hgvsp: ENSP00000456670.1:p.Ser42Leu
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.377C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.192C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.368C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17526
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16396
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 7111
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1081Leu
num of homozygotes: 1
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

16-2162395-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162395
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162395
    reference: chr 16
allele count: 1
allele frequency: 1.432664756446991e-5
allele num: 69800
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.123T>C
  hgvsp: ENSP00000456670.1:p.Ser42Pro
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3241T>C
  hgvsp: ENSP00000262304.4:p.Ser1081Pro
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.736T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.60A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1569T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.256T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3241T>C
  hgvsp: ENSP00000399501.1:p.Ser1081Pro
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.376T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.367T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.719T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4036T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.191T>C
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7175
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17637
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1081Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

16-2162396-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162396
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162396
    reference: chr 16
allele count: 1
allele frequency: 1.435544071202986e-5
allele num: 69660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1568C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.366C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.122C>T
  hgvsp: ENST00000483024.1:c.122C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.255C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3240C>T
  hgvsp: ENST00000423118.1:c.3240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.735C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.718C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.190C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.375C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3240C>T
  hgvsp: ENST00000262304.4:c.3240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.61G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4037C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16434
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1080Pro
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

16-2162397-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162397
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162397
    reference: chr 16
allele count: 16
allele frequency: 2.312606596710317e-4
allele num: 69186
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3239C>A
  hgvsp: ENSP00000262304.4:p.Pro1080His
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.254C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.62G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.374C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.734C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.121C>A
  hgvsp: ENSP00000456670.1:p.Pro41His
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1567C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3239C>A
  hgvsp: ENSP00000399501.1:p.Pro1080His
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.189C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.717C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.365C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4038C>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17772
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6765
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16661
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1080His
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

16-2162398-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162398
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162398
    reference: chr 16
allele count: 1
allele frequency: 1.457598460776025e-5
allele num: 68606
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3238C>G
  hgvsp: ENSP00000399501.1:p.Pro1080Ala
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.253C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.716C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.120C>G
  hgvsp: ENSP00000456670.1:p.Pro41Ala
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.364C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.373C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.188C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3238C>G
  hgvsp: ENSP00000262304.4:p.Pro1080Ala
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.63G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1566C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.733C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4039C>G
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17880
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1080Ala
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

16-2162399-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162399
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162399
    reference: chr 16
allele count: 2
allele frequency: 2.961295863069679e-5
allele num: 67538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.715C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3237C>T
  hgvsp: ENST00000262304.4:c.3237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.187C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.252C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.372C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.363C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4040C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1565C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.64G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3237C>T
  hgvsp: ENST00000423118.1:c.3237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.119C>T
  hgvsp: ENST00000483024.1:c.119C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.732C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4627
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18085
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp1079Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

16-2162399-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162399
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162399
    reference: chr 16
allele count: 1
allele frequency: 1.48064793153484e-5
allele num: 67538
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.363C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3237C>G
  hgvsp: ENSP00000399501.1:p.Asp1079Glu
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.372C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.119C>G
  hgvsp: ENSP00000456670.1:p.Asp40Glu
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3237C>G
  hgvsp: ENSP00000262304.4:p.Asp1079Glu
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1565C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.187C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.64G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.732C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.715C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4040C>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.252C>G
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 18085
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4627
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17480
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5284
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp1079Glu
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: G
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

16-2162408-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162408
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162408
    reference: chr 16
allele count: 21
allele frequency: 3.3305842796422e-4
allele num: 63052
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.723G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.706G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.243G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1556G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.73C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.363G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.110G>A
  hgvsp: ENST00000483024.1:c.110G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3228G>A
  hgvsp: ENST00000262304.4:c.3228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3228G>A
  hgvsp: ENST00000423118.1:c.3228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.178G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.354G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4049G>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18862
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18462
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1076Pro
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP

16-2162409-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162409
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162409
    reference: chr 16
allele count: 3
allele frequency: 4.810776138550353e-5
allele num: 62360
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.74G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.362C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.722C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.705C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.177C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3227C>T
  hgvsp: ENSP00000262304.4:p.Pro1076Leu
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.242C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.109C>T
  hgvsp: ENSP00000456670.1:p.Pro37Leu
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3227C>T
  hgvsp: ENSP00000399501.1:p.Pro1076Leu
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1555C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4050C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.353C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18503
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro1076Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

16-2162410-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162410
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162410
    reference: chr 16
allele count: 1
allele frequency: 1.633880138553036e-5
allele num: 61204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4051C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1554C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.721C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3226C>T
  hgvsp: ENSP00000399501.1:p.Pro1076Ser
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.704C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.176C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.108C>T
  hgvsp: ENSP00000456670.1:p.Pro37Ser
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.352C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.241C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3226C>T
  hgvsp: ENSP00000262304.4:p.Pro1076Ser
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.75G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.361C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18451
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1076Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: MQ

16-2162411-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162411
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162411
    reference: chr 16
allele count: 1
allele frequency: 1.631055292774425e-5
allele num: 61310
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3225C>T
  hgvsp: ENST00000262304.4:c.3225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4052C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1553C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.175C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.76G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.351C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.107C>T
  hgvsp: ENST00000483024.1:c.107C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.360C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3225C>T
  hgvsp: ENST00000423118.1:c.3225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.720C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.703C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.240C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe1075Phe
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

16-2162418-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162418
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162418
    reference: chr 16
allele count: 4
allele frequency: 7.27802037845706e-5
allele num: 54960
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.168A>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1546A>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4059A>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.696A>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.83T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.713A>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.100A>C
  hgvsp: ENSP00000456670.1:p.Glu34Ala
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3218A>C
  hgvsp: ENSP00000399501.1:p.Glu1073Ala
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3218A>C
  hgvsp: ENSP00000262304.4:p.Glu1073Ala
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.353A>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.233A>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.344A>C
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7768
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1073Ala
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

16-2162419-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162419
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162419
    reference: chr 16
allele count: 3
allele frequency: 5.611672278338945e-5
allele num: 53460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4060G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.343G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1545G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.695G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.99G>A
  hgvsp: ENSP00000456670.1:p.Glu34Lys
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.232G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.712G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.352G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3217G>A
  hgvsp: ENSP00000399501.1:p.Glu1073Lys
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3217G>A
  hgvsp: ENSP00000262304.4:p.Glu1073Lys
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.167G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.84C>T
canonical: true
consequence: missense
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7962
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20695
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16897
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1073Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

16-2162419-CGTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162419
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162416
    reference: chr 16
allele count: 2
allele frequency: 3.741114852225963e-5
allele num: 53460
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.692_694delAAC
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1542_*1544delAAC
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.164_166delAAC
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.349_351delAAC
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.87_89delTGT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.229_231delAAC
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3214_3216delAAC
  hgvsp: ENSP00000262304.4:p.Asn1072del
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.96_98delAAC
  hgvsp: ENSP00000456670.1:p.Asn33del
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.340_342delAAC
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3214_3216delAAC
  hgvsp: ENSP00000399501.1:p.Asn1072del
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.709_711delAAC
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4063_473-4061delAAC
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 20695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7962
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16897
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn1072del
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: CGTT
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

16-2162420-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162420
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162420
    reference: chr 16
allele count: 2
allele frequency: 3.902439024390244e-5
allele num: 51250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.711C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.231C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4061C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.342C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3216C>T
  hgvsp: ENST00000423118.1:c.3216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3216C>T
  hgvsp: ENST00000262304.4:c.3216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.98C>T
  hgvsp: ENST00000483024.1:c.98C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.166C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.694C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1544C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.85G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.351C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8318
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn1072Asn
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

16-2162422-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162422
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162422
    reference: chr 16
allele count: 6
allele frequency: 1.1768859597505e-4
allele num: 50982
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.349A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.692A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.229A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.164A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.709A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.340A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3214A>G
  hgvsp: ENSP00000399501.1:p.Asn1072Asp
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.87T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.96A>G
  hgvsp: ENSP00000456670.1:p.Asn33Asp
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3214A>G
  hgvsp: ENSP00000262304.4:p.Asn1072Asp
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4063A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1542A>G
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21619
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8496
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15845
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn1072Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

16-2162426-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162426
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162426
    reference: chr 16
allele count: 2
allele frequency: 4.306817692407081e-5
allele num: 46438
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3210G>A
  hgvsp: ENST00000262304.4:c.3210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.225G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.688G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3210G>A
  hgvsp: ENST00000423118.1:c.3210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.705G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.336G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4067G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.92G>A
  hgvsp: ENST00000483024.1:c.92G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.160G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1538G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.91C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.345G>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14244
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9035
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22956
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1070Pro
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

16-2162431-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162431
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162431
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 44432
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3205C>A
  hgvsp: ENSP00000399501.1:p.Pro1069Thr
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.87C>A
  hgvsp: ENSP00000456670.1:p.Pro30Thr
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.331C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.340C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.155C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.683C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1533C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3205C>A
  hgvsp: ENSP00000262304.4:p.Pro1069Thr
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.220C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.700C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.96G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4072C>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24336
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12867
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1069Thr
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

16-2162435-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162435
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162435
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 43548
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1529C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.696C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.679C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3201C>A
  hgvsp: ENSP00000262304.4:p.Phe1067Leu
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4076C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.327C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3201C>A
  hgvsp: ENSP00000399501.1:p.Phe1067Leu
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.216C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.83C>A
  hgvsp: ENSP00000456670.1:p.Phe28Leu
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.336C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.151C>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.100G>T
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24857
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe1067Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

16-2162442-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162442
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162442
    reference: chr 16
allele count: 1
allele frequency: 2.344446007408449e-5
allele num: 42654
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.320A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.672A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.209A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.107T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1522A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.76A>G
  hgvsp: ENSP00000456670.1:p.His26Arg
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3194A>G
  hgvsp: ENSP00000262304.4:p.His1065Arg
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4083A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3194A>G
  hgvsp: ENSP00000399501.1:p.His1065Arg
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.144A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.689A>G
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.329A>G
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His1065Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

16-2162444-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162444
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162444
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 43126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.687C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.327C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3192C>T
  hgvsp: ENST00000423118.1:c.3192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.670C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.142C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1520C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.74C>T
  hgvsp: ENST00000483024.1:c.74C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3192C>T
  hgvsp: ENST00000262304.4:c.3192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4085C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.109G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.318C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.207C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25202
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1064Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

16-2162453-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162453
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162453
    reference: chr 16
allele count: 84
allele frequency: 1.919210382014257e-3
allele num: 43768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.661G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.198G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.309G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3183G>A
  hgvsp: ENST00000423118.1:c.3183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1511G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.133G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.678G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.65G>A
  hgvsp: ENST00000483024.1:c.65G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.118C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3183G>A
  hgvsp: ENST00000262304.4:c.3183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.318G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4094G>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11991
  bin: 1.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8267
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 1.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 25962
  bin: 7.5e0
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1061Glu
num of homozygotes: 1
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

16-2162465-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162465
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162465
    reference: chr 16
allele count: 1
allele frequency: 2.206920903954802e-5
allele num: 45312
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3171T>C
  hgvsp: ENST00000262304.4:c.3171T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.186T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.306T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.130A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.53T>C
  hgvsp: ENST00000483024.1:c.53T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1499T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.121T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.666T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4106T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3171T>C
  hgvsp: ENST00000423118.1:c.3171T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.649T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.297T>C
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe1057Phe
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

16-2162468-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162468
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162468
    reference: chr 16
allele count: 1
allele frequency: 2.202546143341703e-5
allele num: 45402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.118C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.183C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.663C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3168C>T
  hgvsp: ENST00000262304.4:c.3168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.50C>T
  hgvsp: ENST00000483024.1:c.50C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1496C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.646C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.294C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4109C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.133G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.303C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3168C>T
  hgvsp: ENST00000423118.1:c.3168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7018
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1056Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

16-2162480-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162480
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162480
    reference: chr 16
allele count: 3
allele frequency: 6.447730398899587e-5
allele num: 46528
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.112-6C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.657-6C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.297-6C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.177-6C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.288-6C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.44-6C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3162-6C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4121C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1490-6C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3162-6C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.640-6C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.145G>A
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11582
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.3162-6C>T
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: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

16-2162484-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162484
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162484
    reference: chr 16
allele count: 5
allele frequency: 1.062699256110521e-4
allele num: 47050
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3162-10G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.149C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.640-10G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.288-10G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.657-10G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3162-10G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.177-10G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1490-10G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.297-10G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.112-10G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.44-10G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4125G>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6681
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26053
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11870
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

16-2162485-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162485
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162485
    reference: chr 16
allele count: 6
allele frequency: 1.2721567297091e-4
allele num: 47164
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.112-11C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.44-11C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.177-11C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3162-11C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4126C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.640-11C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.150G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.657-11C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.288-11C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.297-11C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3162-11C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1490-11C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25997
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11926
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-2162492-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162492
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162492
    reference: chr 16
allele count: 8
allele frequency: 1.675252334882942e-4
allele num: 47754
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3162-18G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.297-18G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.44-18G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.112-18G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.288-18G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.177-18G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3162-18G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.157C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.640-18G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1490-18G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4133G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.657-18G>C
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12432
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6977
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

16-2162492-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162492
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162492
    reference: chr 16
allele count: 1
allele frequency: 2.094065418603677e-5
allele num: 47754
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.157C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.112-18G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4133G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3162-18G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.657-18G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.297-18G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.640-18G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.288-18G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3162-18G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.177-18G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1490-18G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.44-18G>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6977
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25513
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

16-2162493-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162493
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162493
    reference: chr 16
allele count: 2
allele frequency: 4.193223750419322e-5
allele num: 47696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.657-19C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.640-19C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.177-19C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.288-19C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.158G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.297-19C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.112-19C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1490-19C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3162-19C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3162-19C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4134C>T
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.44-19C>T
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12509
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7042
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.158G>A
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD

16-2162495-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162495
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162495
    reference: chr 16
allele count: 2
allele frequency: 4.157658406785298e-5
allele num: 48104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4136T>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3162-21T>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.44-21T>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.297-21T>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.160A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3162-21T>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.657-21T>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.112-21T>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.177-21T>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1490-21T>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.640-21T>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.288-21T>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.160A>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

16-2162504-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162504
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162504
    reference: chr 16
allele count: 2
allele frequency: 4.147828611721764e-5
allele num: 48218
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.657-30T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.112-30T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3162-30T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.44-30T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3162-30T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.177-30T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.297-30T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.160+9A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4145T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.640-30T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.288-30T>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1490-30T>C
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12903
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24751
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-2162506-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162506
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162506
    reference: chr 16
allele count: 2
allele frequency: 4.157831275206852e-5
allele num: 48102
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.44-32G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3162-32G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.160+11C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.288-32G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.640-32G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.297-32G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.112-32G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4147G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.177-32G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1490-32G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3162-32G>C
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.657-32G>C
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12939
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

16-2162506-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2162506
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2162506
    reference: chr 16
allele count: 21
allele frequency: 4.365722838967195e-4
allele num: 48102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000565639
  gene symbol: PKD1
  hgvsc: ENST00000565639.2:n.640-32G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000415938
  gene symbol: PKD1
  hgvsc: ENST00000415938.3:n.177-32G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000483731
  gene symbol: PKD1
  hgvsc: ENST00000483731.1:n.657-32G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261240
  ensembl transcript: ENST00000568795
  gene symbol: RP11-304L19.4
  hgvsc: ENST00000568795.1:n.160+11C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456670
  ensembl transcript: ENST00000483024
  gene symbol: PKD1
  hgvsc: ENST00000483024.1:c.44-32G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000457162
  ensembl transcript: ENST00000568591
  gene symbol: PKD1
  hgvsc: ENST00000568591.1:c.*1490-32G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000468674
  gene symbol: PKD1
  hgvsc: ENST00000468674.1:n.297-32G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000262304
  ensembl transcript: ENST00000262304
  gene symbol: PKD1
  hgvsc: ENST00000262304.4:c.3162-32G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000456672
  ensembl transcript: ENST00000488185
  gene symbol: PKD1
  hgvsc: ENST00000488185.2:c.473-4147G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000469241
  gene symbol: PKD1
  hgvsc: ENST00000469241.2:n.112-32G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl protein: ENSP00000399501
  ensembl transcript: ENST00000423118
  gene symbol: PKD1
  hgvsc: ENST00000423118.1:c.3162-32G>A
  variant of: http://identifiers.org/hgnc/9008
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008710
  ensembl transcript: ENST00000569983
  gene symbol: PKD1
  hgvsc: ENST00000569983.1:n.288-32G>A
  variant of: http://identifiers.org/hgnc/9008
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12939
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24583
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS

GenotypeQuality
all individuals: 7558
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3130
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1404
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6787
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2910
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4423
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1569
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2956
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3183
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1847
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4712
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 667
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6845
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4176
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.916699722332408e-5
allele num: 10084
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.447957397683685e-5
allele num: 53706
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6692
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15086
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.093707e6

VQSLOD
type: SiteQuality
SIO_000300: -1.294e0

QD
type: SiteQuality
SIO_000300: 8.58e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.488e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.54e-1

MQ
type: SiteQuality
SIO_000300: 5.01e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

GenotypeQuality
all individuals: 301
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 867
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6969
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2796
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2934
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6839
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4418
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1398
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3124
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3232
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 585
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4720
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7551
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1845
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8672
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6672
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.861434793939168e-5
allele num: 53722
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15096
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.749e0

MQ
type: SiteQuality
SIO_000300: 4.848e1

VQSLOD
type: SiteQuality
SIO_000300: -1.999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.46e-1

DP
type: SiteQuality
SIO_000300: 1.093452e6

QD
type: SiteQuality
SIO_000300: 3.64e0

GenotypeQuality
all individuals: 2741
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4874
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5083
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4106
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2388
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3114
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6561
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1969
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 986
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1679
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2191
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13384
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1143
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.910530298620409e-5
allele num: 34358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12020
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2038
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.551349674216568e-4
allele num: 6446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3992
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.702e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

MQ
type: SiteQuality
SIO_000300: 5.124e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-2

DP
type: SiteQuality
SIO_000300: 8.32725e5

QD
type: SiteQuality
SIO_000300: 5.29e0

GenotypeQuality
all individuals: 403
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5072
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4497
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4155
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1157
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6564
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1977
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2146
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4055
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2703
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3626
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2386
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 371
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1401
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2052
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34454
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5620
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 4.982561036372695e-4
allele num: 12042
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3986
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.916e1

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.22e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.51e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

DP
type: SiteQuality
SIO_000300: 8.35322e5

GenotypeQuality
all individuals: 2023
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1176
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5042
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4201
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2382
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 933
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4495
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2446
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2945
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4497
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6553
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1941
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 370
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.898214699744957e-5
allele num: 34504
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.517e0

MQ
type: SiteQuality
SIO_000300: 4.832e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.21e-2

QD
type: SiteQuality
SIO_000300: 9.800000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 7.79e-1

FS
type: SiteQuality
SIO_000300: 5.954e0

DP
type: SiteQuality
SIO_000300: 8.40916e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.777e0

GenotypeQuality
all individuals: 6382
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4142
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17052
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1680
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1632
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2382
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 533
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4460
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6441
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1221
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4752
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1817
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.745805561939784e-5
allele num: 34808
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5680
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12102
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4014
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2078
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

DP
type: SiteQuality
SIO_000300: 8.57316e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.13e-2

MQ
type: SiteQuality
SIO_000300: 5.053e1

QD
type: SiteQuality
SIO_000300: 1.375e1

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.15e-1

GenotypeQuality
all individuals: 1248
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8039
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1259
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 515
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2380
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17889
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1357
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1317
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4048
bin: 7.5e0
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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African
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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
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num of homozygotes: 0

Other
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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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East Asian
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allele frequency: 1.746419839329375e-4
allele num: 5726
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2100
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 35050
num of homozygotes: 0

DP
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QD
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InbreedingCoeff
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SIO_000300: -1.08e-2

MQ
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SIO_000300: 5.075e1

BaseQRankSum
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SIO_000300: 1.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e-1

MQRankSum
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SIO_000300: 1.09e-1

VQSLOD
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SIO_000300: -1.327e0

FS
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: 2.18e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2116
num of homozygotes: 0

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

African
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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
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 2.847218267752406e-5
allele num: 35122
num of homozygotes: 0

VQSLOD
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MQ
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MQRankSum
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QD
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ClippingRankSum
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SIO_000300: 4.9e-1

InbreedingCoeff
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SIO_000300: 1.24e-2

BaseQRankSum
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SIO_000300: -2.793e0

DP
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SIO_000300: 8.81842e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.74e-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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GenotypeQuality
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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 frequency: 0.0e0
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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: 6630
num of homozygotes: 0

South Asian
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allele count: 11
allele frequency: 9.06244850881529e-4
allele num: 12138
num of homozygotes: 1

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: 0
allele frequency: 0.0e0
allele num: 35122
num of homozygotes: 0

East Asian
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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MQ
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BaseQRankSum
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FS
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SIO_000300: 0.0e0

VQSLOD
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QD
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.74e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2156
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4062
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

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

East Asian
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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: 3
allele frequency: 8.353288411204544e-5
allele num: 35914
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

DP
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QD
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BaseQRankSum
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SIO_000300: -4.71e-1

VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.34e-1

MQ
type: SiteQuality
SIO_000300: 4.576e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 12254
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4020
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.76166804750069e-5
allele num: 36210
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 1.456452082726478e-4
allele num: 6866
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2176
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.01e-2

MQRankSum
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SIO_000300: 7.14e-1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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FS
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QD
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.89e0

DP
type: SiteQuality
SIO_000300: 9.30358e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele count: 4
allele frequency: 3.245699448231094e-4
allele num: 12324
num of homozygotes: 0

European (Non-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: -9.29e-1

ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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DP
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MQRankSum
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MQ
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ClippingRankSum
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SIO_000300: 8.070000000000001e-1

FS
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QD
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SIO_000300: 1.394e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2278
num of homozygotes: 0

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

African
type: Population
allele count: 10
allele frequency: 2.452182442373713e-3
allele num: 4078
num of homozygotes: 0

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

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

South Asian
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allele frequency: 8.107669855683477e-5
allele num: 12334
num of homozygotes: 0

Latino
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allele num: 7000
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VQSLOD
type: SiteQuality
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QD
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ReadPosRankSum
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BaseQRankSum
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DP
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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MQ
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SIO_000300: 4.379e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
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allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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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: 7
allele frequency: 1.887810140237325e-4
allele num: 37080
num of homozygotes: 0

African
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allele count: 0
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num of homozygotes: 0

East Asian
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allele count: 0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

MQ
type: SiteQuality
SIO_000300: 4.673e1

VQSLOD
type: SiteQuality
SIO_000300: -1.665e0

FS
type: SiteQuality
SIO_000300: 1.261e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

QD
type: SiteQuality
SIO_000300: 9.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.599999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

DP
type: SiteQuality
SIO_000300: 9.4941e5

GenotypeQuality
all individuals: 376
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 704
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 4401
bin: 3.25e1
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GenotypeQuality
all individuals: 548
bin: 8.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2377
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15004
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4098
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.402918069584736e-4
allele num: 7128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12392
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.133e0

DP
type: SiteQuality
SIO_000300: 9.61235e5

MQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.82e-1

MQ
type: SiteQuality
SIO_000300: 4.57e1

VQSLOD
type: SiteQuality
SIO_000300: -2.051e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

QD
type: SiteQuality
SIO_000300: 4.83e0

GenotypeQuality
all individuals: 1511
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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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bin: 7.5e0
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GenotypeQuality
all individuals: 2377
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 465
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7216
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4122
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.603592046183451e-4
allele num: 6236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.89e-1

QD
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 3.847e1

DP
type: SiteQuality
SIO_000300: 9.71905e5

GenotypeQuality
all individuals: 2377
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3710
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3278
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GenotypeQuality
all individuals: 16912
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1990
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 610
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GenotypeQuality
all individuals: 234
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GenotypeQuality
all individuals: 485
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variant carriers: 0

GenotypeQuality
all individuals: 699
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variant carriers: 0

GenotypeQuality
all individuals: 1601
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.58825965420851e-5
allele num: 38636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2422
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.134e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.32e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

QD
type: SiteQuality
SIO_000300: 1.028e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.218e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.51e-1

DP
type: SiteQuality
SIO_000300: 9.94936e5

MQ
type: SiteQuality
SIO_000300: 4.765e1

GenotypeQuality
all individuals: 236
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2940
bin: 2.75e1
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GenotypeQuality
all individuals: 627
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.554931016862545e-5
allele num: 39140
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4194
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQ
type: SiteQuality
SIO_000300: 5.352e1

QD
type: SiteQuality
SIO_000300: 7.29e0

FS
type: SiteQuality
SIO_000300: 3.757e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.357e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

DP
type: SiteQuality
SIO_000300: 1.005446e6

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 409
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variant carriers: 1

GenotypeDepth
all individuals: 129
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
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variant carriers: 0

GenotypeQuality
all individuals: 1012
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GenotypeQuality
all individuals: 651
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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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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
all individuals: 2738
bin: 3.25e1
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GenotypeQuality
all individuals: 2380
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 515
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GenotypeQuality
all individuals: 661
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.913587977457733e-4
allele num: 12776
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7744
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2654
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6684
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.66e-1

QD
type: SiteQuality
SIO_000300: 8.199999999999999e0

DP
type: SiteQuality
SIO_000300: 1.041167e6

FS
type: SiteQuality
SIO_000300: 4.598e0

VQSLOD
type: SiteQuality
SIO_000300: -1.906e0

BaseQRankSum
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SIO_000300: -1.154e0

MQ
type: SiteQuality
SIO_000300: 4.588e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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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: 2110
bin: 2.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12892
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.249687578105474e-4
allele num: 8002
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42064
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2862
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.168e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 1.073104e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.214e0

QD
type: SiteQuality
SIO_000300: 8.76e0

GenotypeDepth
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bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 65
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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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GenotypeQuality
all individuals: 2002
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GenotypeQuality
all individuals: 573
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GenotypeQuality
all individuals: 1813
bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 547
bin: 7.25e1
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GenotypeQuality
all individuals: 2381
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 4
allele frequency: 8.92458723784025e-4
allele num: 4482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7050
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13042
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3002
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.984e0

MQRankSum
type: SiteQuality
SIO_000300: -7.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

DP
type: SiteQuality
SIO_000300: 1.099393e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e-1

QD
type: SiteQuality
SIO_000300: 7.85e0

VQSLOD
type: SiteQuality
SIO_000300: -2.734e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.395e0

MQ
type: SiteQuality
SIO_000300: 4.164e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.23e-1

GenotypeDepth
all individuals: 87
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 65
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variant carriers: 0

GenotypeQuality
all individuals: 15910
bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7094
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4572
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.195600191296031e-4
allele num: 8364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.850253459377997e-5
allele num: 43794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3104
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.848e0

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 4.073e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-2

DP
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SIO_000300: 1.1086e6

FS
type: SiteQuality
SIO_000300: 1.5272e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.41e-1

QD
type: SiteQuality
SIO_000300: 1.477e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

GenotypeDepth
all individuals: 162
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 2746
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 573
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GenotypeQuality
all individuals: 376
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3122
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.278838703796545e-5
allele num: 43882
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4586
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7076
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-1

MQ
type: SiteQuality
SIO_000300: 4.718e1

FS
type: SiteQuality
SIO_000300: 7.279e0

InbreedingCoeff
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SIO_000300: -5.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.024e0

DP
type: SiteQuality
SIO_000300: 1.109448e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-1

QD
type: SiteQuality
SIO_000300: 1.014e1

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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bin: 3.25e1
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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: 47

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
all individuals: 580
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 298
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GenotypeQuality
all individuals: 581
bin: 8.25e1
variant carriers: 7

GenotypeQuality
all individuals: 493
bin: 4.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3104
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.614457831325301e-4
allele num: 8300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.288434253283903e-5
allele num: 43698
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7038
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.64642911760208e-5
allele num: 13078
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

African
type: Population
allele count: 49
allele frequency: 1.072210065645514e-2
allele num: 4570
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.651e0

MQ
type: SiteQuality
SIO_000300: 3.759e1

BaseQRankSum
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SIO_000300: -1.495e0

FS
type: SiteQuality
SIO_000300: 1.0571e1

QD
type: SiteQuality
SIO_000300: 7.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

DP
type: SiteQuality
SIO_000300: 1.105264e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.65e-1

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 129
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variant carriers: 0

GenotypeQuality
all individuals: 376
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variant carriers: 0

GenotypeQuality
all individuals: 2027
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variant carriers: 0

GenotypeQuality
all individuals: 123
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GenotypeQuality
all individuals: 2381
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 455
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GenotypeQuality
all individuals: 702
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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
all individuals: 765
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GenotypeQuality
all individuals: 633
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variant carriers: 0

GenotypeQuality
all individuals: 300
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GenotypeQuality
all individuals: 24457
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.154243860404998e-4
allele num: 4642
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3116
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7048
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13094
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8324
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.494e0

MQ
type: SiteQuality
SIO_000300: 4.287e1

DP
type: SiteQuality
SIO_000300: 1.107203e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e0

VQSLOD
type: SiteQuality
SIO_000300: -2.603e0

QD
type: SiteQuality
SIO_000300: 1.0e0

GenotypeDepth
all individuals: 150
bin: 6.25e1
variant carriers: 27

GenotypeDepth
all individuals: 91
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variant carriers: 27

GenotypeQuality
all individuals: 377
bin: 8.75e1
variant carriers: 147

GenotypeQuality
all individuals: 2159
bin: 7.5e0
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GenotypeQuality
all individuals: 13726
bin: 2.25e1
variant carriers: 250

GenotypeQuality
all individuals: 469
bin: 5.75e1
variant carriers: 261

GenotypeQuality
all individuals: 401
bin: 4.75e1
variant carriers: 161

GenotypeQuality
all individuals: 1105
bin: 3.25e1
variant carriers: 171

GenotypeQuality
all individuals: 562
bin: 9.25e1
variant carriers: 206

GenotypeQuality
all individuals: 773
bin: 8.25e1
variant carriers: 238

GenotypeQuality
all individuals: 23137
bin: 6.25e1
variant carriers: 236

GenotypeQuality
all individuals: 4617
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variant carriers: 3194

GenotypeQuality
all individuals: 502
bin: 1.75e1
variant carriers: 292

GenotypeQuality
all individuals: 363
bin: 1.25e1
variant carriers: 166

GenotypeQuality
all individuals: 591
bin: 3.75e1
variant carriers: 172

GenotypeQuality
all individuals: 2631
bin: 2.5e0
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GenotypeQuality
all individuals: 849
bin: 7.75e1
variant carriers: 227

GenotypeQuality
all individuals: 740
bin: 7.25e1
variant carriers: 219

GenotypeQuality
all individuals: 2095
bin: 6.75e1
variant carriers: 273

GenotypeQuality
all individuals: 351
bin: 4.25e1
variant carriers: 180

GenotypeQuality
all individuals: 1193
bin: 2.75e1
variant carriers: 169

GenotypeQuality
all individuals: 578
bin: 5.25e1
variant carriers: 257

Latino
type: Population
allele count: 448
allele frequency: 5.370414768640614e-2
allele num: 8342
num of homozygotes: 3

Other
type: Population
allele count: 52
allele frequency: 9.558823529411764e-2
allele num: 544
num of homozygotes: 2

African
type: Population
allele count: 1661
allele frequency: 3.601474414570685e-1
allele num: 4612
num of homozygotes: 240

European (Non-Finnish)
type: Population
allele count: 3390
allele frequency: 7.681849082256968e-2
allele num: 44130
num of homozygotes: 71

South Asian
type: Population
allele count: 347
allele frequency: 2.644817073170732e-2
allele num: 13120
num of homozygotes: 7

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7044
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 188
allele frequency: 5.85305105853051e-2
allele num: 3212
num of homozygotes: 2

MQRankSum
type: SiteQuality
SIO_000300: -1.642e0

VQSLOD
type: SiteQuality
SIO_000300: 7.46e0

FS
type: SiteQuality
SIO_000300: 1.7505e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.754e-1

QD
type: SiteQuality
SIO_000300: 5.98e0

MQ
type: SiteQuality
SIO_000300: 3.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

DP
type: SiteQuality
SIO_000300: 1.197414e6

GenotypeDepth
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bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 20
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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
all individuals: 261
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 118
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GenotypeQuality
all individuals: 359
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GenotypeQuality
all individuals: 712
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variant carriers: 0

GenotypeQuality
all individuals: 416
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variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6936
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.689941556444171e-5
allele num: 13004
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3086
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.061e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: -2.19e0

DP
type: SiteQuality
SIO_000300: 1.034652e6

FS
type: SiteQuality
SIO_000300: 1.549e0

MQ
type: SiteQuality
SIO_000300: 4.287e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.75e-1

GenotypeDepth
all individuals: 229
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variant carriers: 0

GenotypeDepth
all individuals: 74
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GenotypeQuality
all individuals: 1738
bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 271
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 261
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GenotypeQuality
all individuals: 122
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GenotypeQuality
all individuals: 732
bin: 3.75e1
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GenotypeQuality
all individuals: 531
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GenotypeQuality
all individuals: 599
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GenotypeQuality
all individuals: 415
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GenotypeQuality
all individuals: 22184
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GenotypeQuality
all individuals: 2130
bin: 6.75e1
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GenotypeQuality
all individuals: 1688
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3080
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43124
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.29757785467128e-3
allele num: 6936
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 528
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.313e1

QD
type: SiteQuality
SIO_000300: 1.051e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

MQRankSum
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SIO_000300: -1.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.104e0

DP
type: SiteQuality
SIO_000300: 1.034906e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

FS
type: SiteQuality
SIO_000300: 2.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

GenotypeDepth
all individuals: 20
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 43
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variant carriers: 0

GenotypeQuality
all individuals: 2910
bin: 7.5e0
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GenotypeQuality
all individuals: 400
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GenotypeQuality
all individuals: 509
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GenotypeQuality
all individuals: 606
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GenotypeQuality
all individuals: 611
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.973633771212192e-4
allele num: 42782
num of homozygotes: 0

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

InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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FS
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BaseQRankSum
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MQ
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MQRankSum
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VQSLOD
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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 count: 0
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num of homozygotes: 0

European (Finnish)
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Other
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South Asian
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African
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DP
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VQSLOD
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BaseQRankSum
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MQ
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MQRankSum
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QD
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FS
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 40224
num of homozygotes: 0

African
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Other
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South Asian
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European (Finnish)
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allele count: 0
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num of homozygotes: 0

Latino
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allele frequency: 2.685284640171858e-4
allele num: 7448
num of homozygotes: 0

East Asian
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QD
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQRankSum
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BaseQRankSum
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DP
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MQ
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 12556
num of homozygotes: 0

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

Other
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African
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East Asian
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Latino
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allele num: 7348
num of homozygotes: 0

European (Finnish)
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FS
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VQSLOD
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MQRankSum
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BaseQRankSum
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DP
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ClippingRankSum
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ReadPosRankSum
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QD
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MQ
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 2564
num of homozygotes: 0

Other
type: Population
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Latino
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European (Non-Finnish)
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East Asian
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allele num: 6080
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African
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South Asian
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allele frequency: 8.140670791273201e-3
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DP
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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FS
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MQ
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BaseQRankSum
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 37680
num of homozygotes: 0

East Asian
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South Asian
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Latino
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African
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European (Finnish)
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Other
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QD
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DP
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MQ
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FS
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

Latino
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num of homozygotes: 0

African
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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: 2.660706683695189e-5
allele num: 37584
num of homozygotes: 0

European (Finnish)
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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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South Asian
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InbreedingCoeff
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SIO_000300: -1.15e-2

MQRankSum
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FS
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MQ
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VQSLOD
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ClippingRankSum
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DP
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ReadPosRankSum
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16

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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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 4.158004158004158e-3
allele num: 3848
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East Asian
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allele frequency: 0.0e0
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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

Other
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -1.929e0

InbreedingCoeff
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SIO_000300: -9.8e-3

QD
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MQRankSum
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FS
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VQSLOD
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ClippingRankSum
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MQ
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ReadPosRankSum
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DP
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SIO_000300: 8.57344e5

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 3802
num of homozygotes: 0

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

Latino
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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: 2.703871944624703e-5
allele num: 36984
num of homozygotes: 0

Other
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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

East Asian
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allele frequency: 0.0e0
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QD
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SIO_000300: 8.029999999999999e0

MQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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FS
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ClippingRankSum
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SIO_000300: 4.67e-1

BaseQRankSum
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 3766
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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

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

South Asian
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allele frequency: 1.656177542232527e-4
allele num: 12076
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
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num of homozygotes: 0

MQRankSum
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SIO_000300: 6.840000000000001e-1

DP
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SIO_000300: 8.31963e5

BaseQRankSum
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SIO_000300: -1.134e0

ClippingRankSum
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SIO_000300: 5.54e-1

FS
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InbreedingCoeff
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MQ
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SIO_000300: 3.841e1

VQSLOD
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ReadPosRankSum
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SIO_000300: 1.35e-1

QD
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SIO_000300: 1.043e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2412
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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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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 count: 0
allele frequency: 0.0e0
allele num: 36344
num of homozygotes: 0

African
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allele count: 1
allele frequency: 2.655337227827934e-4
allele num: 3766
num of homozygotes: 0

DP
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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FS
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VQSLOD
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MQRankSum
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QD
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BaseQRankSum
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GenotypeDepth
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variant carriers: 4

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 3544
num of homozygotes: 0

East Asian
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allele num: 5522
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Latino
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allele frequency: 1.65508109897385e-4
allele num: 6042
num of homozygotes: 0

European (Finnish)
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South Asian
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European (Non-Finnish)
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allele frequency: 5.651397977394408e-4
allele num: 33620
num of homozygotes: 0

Other
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QD
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ClippingRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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FS
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 6.016847172081829e-5
allele num: 33240
num of homozygotes: 0

Latino
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African
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South Asian
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East Asian
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European (Finnish)
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Other
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MQRankSum
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FS
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VQSLOD
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QD
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MQ
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.25e1
variant carriers: 1

European (Finnish)
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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: 0.0e0
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

Other
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African
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allele frequency: 2.925687536571094e-4
allele num: 3418
num of homozygotes: 0

Latino
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allele count: 0
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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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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FS
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SIO_000300: 8.08e0

QD
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MQ
type: SiteQuality
SIO_000300: 4.361e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 2.906976744186046e-4
allele num: 3440
num of homozygotes: 0

South 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: 0.0e0
allele num: 32680
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 414
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 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
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

DP
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SIO_000300: 7.61312e5

QD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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VQSLOD
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MQ
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ClippingRankSum
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SIO_000300: 1.77e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 366
num of homozygotes: 0

Latino
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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
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num of homozygotes: 0

African
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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 frequency: 1.37221269296741e-4
allele num: 29150
num of homozygotes: 0

VQSLOD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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MQ
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SIO_000300: 3.927e1

InbreedingCoeff
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SIO_000300: -2.07e-2

FS
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QD
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ReadPosRankSum
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele num: 11028
num of homozygotes: 0

East Asian
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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: 0.0e0
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num of homozygotes: 0

African
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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: 3
allele frequency: 1.058948111542534e-4
allele num: 28330
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1520
num of homozygotes: 0

ReadPosRankSum
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SIO_000300: 6.33e-1

MQRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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MQ
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SIO_000300: 3.928e1

FS
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VQSLOD
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QD
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9.067827348567283e-5
allele num: 11028
num of homozygotes: 0

European (Finnish)
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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
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Latino
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African
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num of homozygotes: 0

East Asian
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European (Non-Finnish)
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allele count: 1
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allele num: 28330
num of homozygotes: 0

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

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

African
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Other
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Latino
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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: 7.401376656058027e-5
allele num: 27022
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QD
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InbreedingCoeff
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DP
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FS
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BaseQRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele frequency: 1.379944802207912e-3
allele num: 4348
num of homozygotes: 0

European (Finnish)
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South Asian
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African
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East Asian
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Other
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European (Non-Finnish)
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ReadPosRankSum
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MQ
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BaseQRankSum
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DP
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MQRankSum
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QD
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ClippingRankSum
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FS
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InbreedingCoeff
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1826
bin: 6.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4006
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.90015600624025e-4
allele num: 2564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.130865829477858e-5
allele num: 24208
num of homozygotes: 0

South Asian
type: Population
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: 320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1154
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.747e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.91e-1

MQ
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SIO_000300: 3.468e1

MQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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SIO_000300: -2.41e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

DP
type: SiteQuality
SIO_000300: 6.80431e5

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3438
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 23076
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1016
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3816
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 6.67623e5

MQRankSum
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SIO_000300: 3.61e-1

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -2.32e-2

BaseQRankSum
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SIO_000300: -8.76e-1

QD
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SIO_000300: 8.279999999999999e0

ClippingRankSum
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SIO_000300: 0.0e0

VQSLOD
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SIO_000300: -2.666e0

MQ
type: SiteQuality
SIO_000300: 3.915e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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GenotypeQuality
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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: 1914
bin: 6.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3334
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 944
num of homozygotes: 0

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

East 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: 312
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 22600
num of homozygotes: 0

BaseQRankSum
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SIO_000300: -9.88e-1

InbreedingCoeff
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SIO_000300: -2.24e-2

VQSLOD
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SIO_000300: -3.187e0

DP
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SIO_000300: 6.63466e5

MQRankSum
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SIO_000300: -4.06e-1

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 3.769e1

ClippingRankSum
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SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 9.800000000000001e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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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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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: 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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.522840343735866e-5
allele num: 22110
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2328
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3256
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.5e0

InbreedingCoeff
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SIO_000300: -2.33e-2

MQRankSum
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SIO_000300: 2.07e0

VQSLOD
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SIO_000300: -7.7e0

MQ
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SIO_000300: 3.369e1

FS
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SIO_000300: 4.598e0

ReadPosRankSum
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SIO_000300: -2.358e0

ClippingRankSum
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SIO_000300: 1.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

DP
type: SiteQuality
SIO_000300: 6.62709e5

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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GenotypeQuality
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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: 1

GenotypeQuality
all individuals: 417
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3290
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 936
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: -2.17e-2

DP
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ClippingRankSum
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MQ
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SIO_000300: 3.916e1

FS
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SIO_000300: 3.68e0

VQSLOD
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BaseQRankSum
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MQRankSum
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SIO_000300: -5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

QD
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SIO_000300: 7.64e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 75

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3754
num of homozygotes: 0

African
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allele count: 2
allele frequency: 8.223684210526315e-4
allele num: 2432
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

Latino
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allele count: 14
allele frequency: 4.134672179562906e-3
allele num: 3386
num of homozygotes: 0

European (Non-Finnish)
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allele count: 68
allele frequency: 2.989536621823617e-3
allele num: 22746
num of homozygotes: 1

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

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.231550440081246e-5
allele num: 23632
num of homozygotes: 0

Other
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European (Finnish)
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East Asian
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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VQSLOD
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FS
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MQ
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BaseQRankSum
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ClippingRankSum
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QD
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4729
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1088
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.223329673114283e-5
allele num: 23678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.39e-1

QD
type: SiteQuality
SIO_000300: 1.364e1

MQ
type: SiteQuality
SIO_000300: 4.541e1

FS
type: SiteQuality
SIO_000300: 5.039e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.63e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.031e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

DP
type: SiteQuality
SIO_000300: 7.08951e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-2

GenotypeDepth
all individuals: 1189
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variant carriers: 0

GenotypeDepth
all individuals: 23
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variant carriers: 0

GenotypeDepth
all individuals: 26385
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GenotypeQuality
all individuals: 174
bin: 5.75e1
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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bin: 1.25e1
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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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 417
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variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.105427374989737e-5
allele num: 24358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1162
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2722
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3968
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.92975685063682e-4
allele num: 10364
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -9.757e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.72e-2

MQ
type: SiteQuality
SIO_000300: 4.575e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 7.23848e5

MQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

QD
type: SiteQuality
SIO_000300: 2.856e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
all individuals: 211
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GenotypeQuality
all individuals: 575
bin: 8.25e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.622981416862777e-4
allele num: 24646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4040
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1204
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.76e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

DP
type: SiteQuality
SIO_000300: 7.21806e5

FS
type: SiteQuality
SIO_000300: 9.021000000000001e0

MQ
type: SiteQuality
SIO_000300: 4.891e1

QD
type: SiteQuality
SIO_000300: 8.77e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.194e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.05e-1

GenotypeDepth
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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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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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variant carriers: 0

GenotypeQuality
all individuals: 6706
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 572
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GenotypeQuality
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GenotypeQuality
all individuals: 415
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GenotypeQuality
all individuals: 1660
bin: 9.75e1
variant carriers: 6

European (Finnish)
type: Population
allele count: 1
allele frequency: 8.250825082508251e-4
allele num: 1212
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 7.173601147776184e-4
allele num: 2788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24732
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 5.455537370430987e-4
allele num: 3666
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.482621648460775e-4
allele num: 4028
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.625e0

MQ
type: SiteQuality
SIO_000300: 4.53e1

MQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.23044e5

QD
type: SiteQuality
SIO_000300: 1.916e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.75e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.67e-1

GenotypeDepth
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variant carriers: 0

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
all individuals: 190
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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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GenotypeQuality
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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
all individuals: 30315
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 396
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GenotypeQuality
all individuals: 583
bin: 7.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 3.196164602477027e-4
allele num: 25030
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2848
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10460
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1250
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.812e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.065e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 7.17596e5

MQ
type: SiteQuality
SIO_000300: 4.523e1

FS
type: SiteQuality
SIO_000300: 7.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.61e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQRankSum
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SIO_000300: -1.873e0

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4104
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1250
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.995205753096284e-5
allele num: 25030
num of homozygotes: 0

African
type: Population
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: 344
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VQSLOD
type: SiteQuality
SIO_000300: -1.812e0

DP
type: SiteQuality
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QD
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MQRankSum
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BaseQRankSum
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SIO_000300: 1.32e0

ClippingRankSum
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SIO_000300: -1.065e0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.61e-2

MQ
type: SiteQuality
SIO_000300: 4.523e1

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 570
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GenotypeQuality
all individuals: 414
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3730
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.444987775061124e-4
allele num: 4090
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 9.578544061302682e-5
allele num: 10440
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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African
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DP
type: SiteQuality
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VQSLOD
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MQRankSum
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ClippingRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2

GenotypeQuality
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GenotypeQuality
all individuals: 570
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25264
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4114
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3760
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 1.574803149606299e-3
allele num: 1270
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e-1

FS
type: SiteQuality
SIO_000300: 3.222e0

VQSLOD
type: SiteQuality
SIO_000300: -1.342e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.62e0

QD
type: SiteQuality
SIO_000300: 1.598e1

DP
type: SiteQuality
SIO_000300: 7.14975e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.77e-2

MQ
type: SiteQuality
SIO_000300: 4.851e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

GenotypeDepth
all individuals: 2251
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3030
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1625
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2488
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8097
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29188
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3886
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1319
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1657
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 398
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4116
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.942284948356067e-5
allele num: 25366
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.525623928367309e-5
allele num: 10498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3756
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.87e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 7.08762e5

FS
type: SiteQuality
SIO_000300: 3.319e0

MQRankSum
type: SiteQuality
SIO_000300: -7.96e-1

QD
type: SiteQuality
SIO_000300: 1.305e1

MQ
type: SiteQuality
SIO_000300: 4.579e1

VQSLOD
type: SiteQuality
SIO_000300: -2.181e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2482
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1341
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29319
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3974
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3045
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1229
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8293
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1672
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1037
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 7.90076637433831e-5
allele num: 25314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2870
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3758
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4094
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.82e-2

FS
type: SiteQuality
SIO_000300: 1.558e0

VQSLOD
type: SiteQuality
SIO_000300: -1.279e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

DP
type: SiteQuality
SIO_000300: 7.08969e5

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 4.906e1

GenotypeDepth
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3974
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8293
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3045
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 118
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 29319
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1229
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1341
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 575
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1672
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 2482
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 8.25e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3758
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.484320557491289e-4
allele num: 2870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 7.900766374338311e-4
allele num: 25314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1260
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

FS
type: SiteQuality
SIO_000300: 1.558e0