14-73731009-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731009
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731009
    reference: chr 14
allele count: 1
allele frequency: 8.265829062654984e-6
allele num: 120980
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*116C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*150C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1824C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2952C>T
  hgvsp: ENST00000427855.1:c.2952C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2952C>T
  hgvsp: ENST00000381166.3:c.2952C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2904C>T
  hgvsp: ENST00000555445.1:c.2904C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*223C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2952C>T
  hgvsp: ENST00000554301.1:c.2952C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.557C>T
  hgvsp: ENST00000559759.1:c.557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2871C>T
  hgvsp: ENST00000340738.5:c.2871C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000554314
  gene symbol: PAPLN
  hgvsc: ENST00000554314.1:n.652C>T
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly957Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

14-73731010-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731010
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731010
    reference: chr 14
allele count: 3
allele frequency: 2.479666732791113e-5
allele num: 120984
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2872C>T
  hgvsp: ENSP00000345395.5:p.Arg958Cys
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*224C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1825C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.558C>T
  hgvsp: ENSP00000453664.1:p.Arg187Cys
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*151C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2953C>T
  hgvsp: ENSP00000370558.3:p.Arg985Cys
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2905C>T
  hgvsp: ENSP00000451729.1:p.Arg969Cys
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*117C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2953C>T
  hgvsp: ENSP00000403403.1:p.Arg985Cys
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000554314
  gene symbol: PAPLN
  hgvsc: ENST00000554314.1:n.653C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2953C>T
  hgvsp: ENSP00000451803.1:p.Arg985Cys
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8948
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg958Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

14-73731011-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731011
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731011
    reference: chr 14
allele count: 2
allele frequency: 1.653411815280832e-5
allele num: 120962
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.559G>A
  hgvsp: ENSP00000453664.1:p.Arg187His
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2873G>A
  hgvsp: ENSP00000345395.5:p.Arg958His
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2906G>A
  hgvsp: ENSP00000451729.1:p.Arg969His
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000554314
  gene symbol: PAPLN
  hgvsc: ENST00000554314.1:n.654G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2954G>A
  hgvsp: ENSP00000403403.1:p.Arg985His
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1826G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*152G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2954G>A
  hgvsp: ENSP00000451803.1:p.Arg985His
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*118G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2954G>A
  hgvsp: ENSP00000370558.3:p.Arg985His
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*225G>A
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg958His
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

14-73731012-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731012
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731012
    reference: chr 14
allele count: 1916
allele frequency: 1.583942329949406e-2
allele num: 120964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2955C>T
  hgvsp: ENST00000554301.1:c.2955C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2955C>T
  hgvsp: ENST00000381166.3:c.2955C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1827C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2907C>T
  hgvsp: ENST00000555445.1:c.2907C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.560C>T
  hgvsp: ENST00000559759.1:c.560C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2874C>T
  hgvsp: ENST00000340738.5:c.2874C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*226C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2955C>T
  hgvsp: ENST00000427855.1:c.2955C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*153C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000554314
  gene symbol: PAPLN
  hgvsc: ENST00000554314.1:n.655C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*119C>T
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7580
  bin: 4.25e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 9.75e1
  variant carriers: 474
genotype depth: GenotypeDepth
  all individuals: 10973
  bin: 3.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 5.75e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.75e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 4.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11140
  bin: 2.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 8932
  bin: 3.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 5.25e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.25e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 2.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 6.75e1
  variant carriers: 129
genotype quality: GenotypeQuality
hgvs: p.Arg958Arg
num of homozygotes: 26
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

14-73731013-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731013
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731013
    reference: chr 14
allele count: 315
allele frequency: 2.604769622597823e-3
allele num: 120932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1828G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000554314
  gene symbol: PAPLN
  hgvsc: ENST00000554314.1:n.656G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2908G>A
  hgvsp: ENSP00000451729.1:p.Asp970Asn
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2875G>A
  hgvsp: ENSP00000345395.5:p.Asp959Asn
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2956G>A
  hgvsp: ENSP00000451803.1:p.Asp986Asn
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*154G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2956G>A
  hgvsp: ENSP00000370558.3:p.Asp986Asn
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.561G>A
  hgvsp: ENSP00000453664.1:p.Asp188Asn
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*227G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2956G>A
  hgvsp: ENSP00000403403.1:p.Asp986Asn
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*120G>A
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5806
  bin: 4.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 11270
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11523
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 6.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 7710
  bin: 4.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
hgvs: p.Asp959Asn
num of homozygotes: 1
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-73731017-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731017
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731017
    reference: chr 14
allele count: 1
allele frequency: 8.276638360563474e-6
allele num: 120822
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*231C>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1832C>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2960C>A
  hgvsp: ENSP00000403403.1:p.Ser987Tyr
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2912C>A
  hgvsp: ENSP00000451729.1:p.Ser971Tyr
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.565C>A
  hgvsp: ENSP00000453664.1:p.Ser189Tyr
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*158C>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2960C>A
  hgvsp: ENSP00000370558.3:p.Ser987Tyr
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2960C>A
  hgvsp: ENSP00000451803.1:p.Ser987Tyr
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*124C>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000554314
  gene symbol: PAPLN
  hgvsc: ENST00000554314.1:n.660C>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2879C>A
  hgvsp: ENSP00000345395.5:p.Ser960Tyr
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7723
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser960Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

14-73731028-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731028
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731028
    reference: chr 14
allele count: 1
allele frequency: 8.308822307526131e-6
allele num: 120354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*169C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.576C>T
  hgvsp: ENSP00000453664.1:p.Gln193Ter
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2923C>T
  hgvsp: ENSP00000451729.1:p.Gln975Ter
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2890C>T
  hgvsp: ENSP00000345395.5:p.Gln964Ter
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2971C>T
  hgvsp: ENSP00000451803.1:p.Gln991Ter
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000554314
  gene symbol: PAPLN
  hgvsc: ENST00000554314.1:n.671C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1843C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*135C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2971C>T
  hgvsp: ENSP00000370558.3:p.Gln991Ter
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2971C>T
  hgvsp: ENSP00000403403.1:p.Gln991Ter
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*242C>T
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5812
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11258
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln964Ter
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS

http://identifiers.org/exac.variant/14-73731031-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731031
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731031
    reference: chr 14
allele count: 1
allele frequency: 8.326949338840222e-6
allele num: 120092
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.579C>A
  hgvsp: ENSP00000453664.1:p.Leu194Ile
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000554314
  gene symbol: PAPLN
  hgvsc: ENST00000554314.1:n.674C>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2974C>A
  hgvsp: ENSP00000403403.1:p.Leu992Ile
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2974C>A
  hgvsp: ENSP00000370558.3:p.Leu992Ile
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2974C>A
  hgvsp: ENSP00000451803.1:p.Leu992Ile
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2893C>A
  hgvsp: ENSP00000345395.5:p.Leu965Ile
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*245C>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2926C>A
  hgvsp: ENSP00000451729.1:p.Leu976Ile
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*172C>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1846C>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*138C>A
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5812
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu965Ile
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

14-73731035-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731035
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731035
    reference: chr 14
allele count: 4
allele frequency: 3.33889816360601e-5
allele num: 119800
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2897G>A
  hgvsp: ENSP00000345395.5:p.Arg966His
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*176G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1850G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.583G>A
  hgvsp: ENSP00000453664.1:p.Arg195His
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*249G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2978G>A
  hgvsp: ENSP00000451803.1:p.Arg993His
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000554314
  gene symbol: PAPLN
  hgvsc: ENST00000554314.1:n.678G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2930G>A
  hgvsp: ENSP00000451729.1:p.Arg977His
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2978G>A
  hgvsp: ENSP00000370558.3:p.Arg993His
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2978G>A
  hgvsp: ENSP00000403403.1:p.Arg993His
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*142G>A
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg966His
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-73731040-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731040
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731040
    reference: chr 14
allele count: 6
allele frequency: 5.030602833906263e-5
allele num: 119270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1855A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*254A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2983A>G
  hgvsp: ENSP00000451803.1:p.Ile995Val
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2983A>G
  hgvsp: ENSP00000403403.1:p.Ile995Val
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*147A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.588A>G
  hgvsp: ENSP00000453664.1:p.Ile197Val
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2902A>G
  hgvsp: ENSP00000345395.5:p.Ile968Val
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*181A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000554314
  gene symbol: PAPLN
  hgvsc: ENST00000554314.1:n.683A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2983A>G
  hgvsp: ENSP00000370558.3:p.Ile995Val
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2935A>G
  hgvsp: ENSP00000451729.1:p.Ile979Val
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5810
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile968Val
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-73731048-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731048
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731048
    reference: chr 14
allele count: 34
allele frequency: 2.867794665901921e-4
allele num: 118558
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2986+5C>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*184+5C>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2986+5C>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000554314
  gene symbol: PAPLN
  hgvsc: ENST00000554314.1:n.686+5C>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2986+5C>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*150+5C>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1858+5C>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2905+5C>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2938+5C>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.591+5C>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*257+5C>G
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9115
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7701
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2905+5C>G
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

14-73731049-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731049
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731049
    reference: chr 14
allele count: 1
allele frequency: 8.436113313874031e-6
allele num: 118538
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000554314
  gene symbol: PAPLN
  hgvsc: ENST00000554314.1:n.686+6T>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2905+6T>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.591+6T>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2986+6T>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1858+6T>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*150+6T>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2938+6T>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2986+6T>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*257+6T>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2986+6T>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*184+6T>C
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.2905+6T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

14-73731056-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731056
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731056
    reference: chr 14
allele count: 1
allele frequency: 8.492280517010038e-6
allele num: 117754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*184+13A>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2905+13A>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2986+13A>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*150+13A>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2938+13A>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000554314
  gene symbol: PAPLN
  hgvsc: ENST00000554314.1:n.686+13A>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2986+13A>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2986+13A>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*257+13A>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1858+13A>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.591+13A>T
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10494
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4471
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum

14-73731057-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731057
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731057
    reference: chr 14
allele count: 1
allele frequency: 8.4888202237653e-6
allele num: 117802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000554314
  gene symbol: PAPLN
  hgvsc: ENST00000554314.1:n.686+14C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2986+14C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2938+14C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*184+14C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*257+14C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2905+14C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2986+14C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2986+14C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1858+14C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.591+14C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*150+14C>T
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5388
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

14-73731072-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731072
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731072
    reference: chr 14
allele count: 3
allele frequency: 2.573207760794606e-5
allele num: 116586
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000554314
  gene symbol: PAPLN
  hgvsc: ENST00000554314.1:n.686+29C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.591+29C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2905+29C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2986+29C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2986+29C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*184+29C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2938+29C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*257+29C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1858+29C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2986+29C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*150+29C>T
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8596
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-73731073-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731073
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731073
    reference: chr 14
allele count: 30
allele frequency: 2.576168721876825e-4
allele num: 116452
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2986+30G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2986+30G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*184+30G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2905+30G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2938+30G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1858+30G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.591+30G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000554314
  gene symbol: PAPLN
  hgvsc: ENST00000554314.1:n.686+30G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*257+30G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*150+30G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2986+30G>A
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7655
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9001
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8513
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-73731084-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731084
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731084
    reference: chr 14
allele count: 1
allele frequency: 8.669267446900737e-6
allele num: 115350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*257+41C>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2986+41C>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*184+41C>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*150+41C>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1858+41C>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2986+41C>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2986+41C>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000554314
  gene symbol: PAPLN
  hgvsc: ENST00000554314.1:n.686+41C>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.591+41C>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2905+41C>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2938+41C>A
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

14-73731086-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731086
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731086
    reference: chr 14
allele count: 1
allele frequency: 8.679500755116566e-6
allele num: 115214
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*257+43C>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1858+43C>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*150+43C>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2905+43C>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2986+43C>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*184+43C>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2938+43C>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2986+43C>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2986+43C>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000554314
  gene symbol: PAPLN
  hgvsc: ENST00000554314.1:n.686+43C>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.591+43C>G
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8837
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5759
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ

14-73731086-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731086
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731086
    reference: chr 14
allele count: 7
allele frequency: 6.075650528581596e-5
allele num: 115214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1858+43C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2986+43C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.591+43C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*257+43C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*150+43C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*184+43C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000554314
  gene symbol: PAPLN
  hgvsc: ENST00000554314.1:n.686+43C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2905+43C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2986+43C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2938+43C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2986+43C>T
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7592
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9314
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8837
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

14-73731087-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731087
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731087
    reference: chr 14
allele count: 4
allele frequency: 3.477897958473899e-5
allele num: 115012
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2905+44G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*257+44G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2938+44G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1858+44G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2986+44G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*150+44G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000554314
  gene symbol: PAPLN
  hgvsc: ENST00000554314.1:n.686+44G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2986+44G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.591+44G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*184+44G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2986+44G>A
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7405
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7570
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

14-73731089-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731089
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731089
    reference: chr 14
allele count: 1
allele frequency: 8.694291328313829e-6
allele num: 115018
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2938+46G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1858+46G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*257+46G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2986+46G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*184+46G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000554314
  gene symbol: PAPLN
  hgvsc: ENST00000554314.1:n.686+46G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2905+46G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2986+46G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.591+46G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*150+46G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2986+46G>A
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

14-73731092-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731092
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731092
    reference: chr 14
allele count: 1
allele frequency: 8.725242125468982e-6
allele num: 114610
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*150+49G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1858+49G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2986+49G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000554314
  gene symbol: PAPLN
  hgvsc: ENST00000554314.1:n.686+49G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2938+49G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2905+49G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2986+49G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.591+49G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2986+49G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*184+49G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*257+49G>A
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7536
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-73731250-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731250
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731250
    reference: chr 14
allele count: 1
allele frequency: 8.519919571959241e-6
allele num: 117372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*258-46C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*185-46C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.592-46C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2906-46C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*151-46C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000554314
  gene symbol: PAPLN
  hgvsc: ENST00000554314.1:n.687-14C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2987-46C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2939-46C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2987-46C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1859-46C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2987-46C>T
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4846
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7273
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

14-73731260-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731260
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731260
    reference: chr 14
allele count: 1
allele frequency: 8.498776176230622e-6
allele num: 117664
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.592-36A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2987-36A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*185-36A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2987-36A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*151-36A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1859-36A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2987-36A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000554314
  gene symbol: PAPLN
  hgvsc: ENST00000554314.1:n.687-4A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2939-36A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*258-36A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2906-36A>G
  variant of: http://identifiers.org/hgnc/19262
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3411
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7272
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4845
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.687-4A>G
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

14-73731261-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731261
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731261
    reference: chr 14
allele count: 3
allele frequency: 2.550196365120114e-5
allele num: 117638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2987-35C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*258-35C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2987-35C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2906-35C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1859-35C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2939-35C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*185-35C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000554314
  gene symbol: PAPLN
  hgvsc: ENST00000554314.1:n.687-3C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2987-35C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.592-35C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*151-35C>T
  variant of: http://identifiers.org/hgnc/19262
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7272
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4845
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: n.687-3C>T
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

14-73731262-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731262
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731262
    reference: chr 14
allele count: 72
allele frequency: 6.112884602322896e-4
allele num: 117784
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2987-34A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*151-34A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1859-34A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*258-34A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2939-34A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000554314
  gene symbol: PAPLN
  hgvsc: ENST00000554314.1:n.687-2A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.592-34A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2987-34A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2906-34A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2987-34A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*185-34A>G
  variant of: http://identifiers.org/hgnc/19262
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4843
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7276
  bin: 9.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 8.25e1
  variant carriers: 0
hgvs: n.687-2A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

14-73731265-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731265
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731265
    reference: chr 14
allele count: 1
allele frequency: 8.47802495930548e-6
allele num: 117952
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2939-31T>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*151-31T>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.592-31T>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*185-31T>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2987-31T>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2987-31T>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2906-31T>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000554314
  gene symbol: PAPLN
  hgvsc: ENST00000554314.1:n.688T>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1859-31T>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*258-31T>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2987-31T>G
  variant of: http://identifiers.org/hgnc/19262
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3411
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4844
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7245
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.688T>G
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

14-73731268-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731268
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731268
    reference: chr 14
allele count: 1
allele frequency: 8.470986869970351e-6
allele num: 118050
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2987-28C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*185-28C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000554314
  gene symbol: PAPLN
  hgvsc: ENST00000554314.1:n.691C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2939-28C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.592-28C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*151-28C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*258-28C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2906-28C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1859-28C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2987-28C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2987-28C>T
  variant of: http://identifiers.org/hgnc/19262
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7245
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3411
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4844
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum

14-73731269-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731269
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731269
    reference: chr 14
allele count: 2
allele frequency: 1.692161906051171e-5
allele num: 118192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.592-27A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*151-27A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000554314
  gene symbol: PAPLN
  hgvsc: ENST00000554314.1:n.692A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2987-27A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2939-27A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2987-27A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*258-27A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1859-27A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*185-27A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2987-27A>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2906-27A>G
  variant of: http://identifiers.org/hgnc/19262
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7245
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3411
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4844
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

14-73731293-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731293
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731293
    reference: chr 14
allele count: 70
allele frequency: 5.834500233380009e-4
allele num: 119976
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*151-3C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2987-3C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2939-3C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2987-3C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2987-3C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*185-3C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*258-3C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1859-3C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.592-3C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2906-3C>T
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4847
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7278
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.2906-3C>T
num of homozygotes: 1
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

14-73731293-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731293
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731291
    reference: chr 14
allele count: 398
allele frequency: 3.317330132693205e-3
allele num: 119976
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2987-2_2987-1delAG
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2939-2_2939-1delAG
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2987-2_2987-1delAG
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*258-2_*258-1delAG
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.592-2_592-1delAG
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*185-2_*185-1delAG
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2987-2_2987-1delAG
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2906-2_2906-1delAG
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*151-2_*151-1delAG
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1859-2_1859-1delAG
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7278
  bin: 9.75e1
  variant carriers: 337
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4847
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6544
  bin: 6.25e1
  variant carriers: 0
hgvs: c.2906-2_2906-1delAG
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: CAG
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

14-73731294-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731294
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731293
    reference: chr 14
allele count: 1
allele frequency: 8.382510729613734e-6
allele num: 119296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*188delG
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2909delG
  hgvsp: ENSP00000345395.5:p.Gly970ValfsTer11
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2990delG
  hgvsp: ENSP00000370558.3:p.Gly997ValfsTer11
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2942delG
  hgvsp: ENSP00000451729.1:p.Gly981ValfsTer11
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1862delG
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2990delG
  hgvsp: ENSP00000451803.1:p.Gly997ValfsTer11
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*261delG
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*154delG
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2990delG
  hgvsp: ENSP00000403403.1:p.Gly997ValfsTer11
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.595delG
  hgvsp: ENSP00000453664.1:p.Gly199ValfsTer11
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4840
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6918
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
hgvs: c.2909delG
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: AG
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum

14-73731295-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731295
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731295
    reference: chr 14
allele count: 2
allele frequency: 1.673248109229637e-5
allele num: 119528
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2987-1G>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2987-1G>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*258-1G>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*185-1G>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.592-1G>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2987-1G>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1859-1G>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*151-1G>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2939-1G>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2906-1G>C
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4841
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
hgvs: c.2906-1G>C
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

14-73731295-GGGGGTGACAT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731295
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731285
    reference: chr 14
allele count: 1
allele frequency: 8.366240546148183e-6
allele num: 119528
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsp: ENSP00000451729.1:p.Gly981ProfsTer8
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsp: ENSP00000403403.1:p.Gly997ProfsTer8
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsp: ENSP00000453664.1:p.Gly199ProfsTer8
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsp: ENSP00000345395.5:p.Gly970ProfsTer8
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsp: ENSP00000370558.3:p.Gly997ProfsTer8
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsp: ENSP00000451803.1:p.Gly997ProfsTer8
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4841
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly970ProfsTer8
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: GGGGGTGACAT
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP

14-73731298-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731298
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731298
    reference: chr 14
allele count: 2
allele frequency: 1.663174001264012e-5
allele num: 120252
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2908G>C
  hgvsp: ENSP00000345395.5:p.Gly970Arg
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.594G>C
  hgvsp: ENSP00000453664.1:p.Gly199Arg
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2989G>C
  hgvsp: ENSP00000403403.1:p.Gly997Arg
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2989G>C
  hgvsp: ENSP00000451803.1:p.Gly997Arg
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*260G>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*153G>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2941G>C
  hgvsp: ENSP00000451729.1:p.Gly981Arg
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2989G>C
  hgvsp: ENSP00000370558.3:p.Gly997Arg
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1861G>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*187G>C
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4885
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6956
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly970Arg
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

14-73731299-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731299
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731299
    reference: chr 14
allele count: 2
allele frequency: 1.662786830728301e-5
allele num: 120280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1862G>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2990G>C
  hgvsp: ENSP00000403403.1:p.Gly997Ala
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*261G>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*188G>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*154G>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2990G>C
  hgvsp: ENSP00000451803.1:p.Gly997Ala
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2942G>C
  hgvsp: ENSP00000451729.1:p.Gly981Ala
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.595G>C
  hgvsp: ENSP00000453664.1:p.Gly199Ala
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2909G>C
  hgvsp: ENSP00000345395.5:p.Gly970Ala
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2990G>C
  hgvsp: ENSP00000370558.3:p.Gly997Ala
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6956
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4885
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly970Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

14-73731300-TGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731300
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731298
    reference: chr 14
allele count: 2
allele frequency: 1.66245511371193e-5
allele num: 120304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*190_*191delGA
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2992_2993delGA
  hgvsp: ENSP00000403403.1:p.Asp998HisfsTer6
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1864_1865delGA
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2944_2945delGA
  hgvsp: ENSP00000451729.1:p.Asp982HisfsTer6
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2992_2993delGA
  hgvsp: ENSP00000451803.1:p.Asp998HisfsTer6
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*156_*157delGA
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*263_*264delGA
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2911_2912delGA
  hgvsp: ENSP00000345395.5:p.Asp971HisfsTer6
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.597_598delGA
  hgvsp: ENSP00000453664.1:p.Asp200HisfsTer6
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2992_2993delGA
  hgvsp: ENSP00000370558.3:p.Asp998HisfsTer6
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4885
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6956
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp971HisfsTer6
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: TGA
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ

14-73731305-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731305
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731305
    reference: chr 14
allele count: 84
allele frequency: 6.972458787788237e-4
allele num: 120474
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*267T>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2948T>C
  hgvsp: ENSP00000451729.1:p.Met983Thr
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*194T>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1868T>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2915T>C
  hgvsp: ENSP00000345395.5:p.Met972Thr
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2996T>C
  hgvsp: ENSP00000403403.1:p.Met999Thr
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.601T>C
  hgvsp: ENSP00000453664.1:p.Met201Thr
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*160T>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2996T>C
  hgvsp: ENSP00000451803.1:p.Met999Thr
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2996T>C
  hgvsp: ENSP00000370558.3:p.Met999Thr
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5057
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 9.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met972Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

14-73731306-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731306
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731306
    reference: chr 14
allele count: 1
allele frequency: 8.298755186721992e-6
allele num: 120500
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2949G>A
  hgvsp: ENSP00000451729.1:p.Met983Ile
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2997G>A
  hgvsp: ENSP00000451803.1:p.Met999Ile
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2916G>A
  hgvsp: ENSP00000345395.5:p.Met972Ile
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*161G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.602G>A
  hgvsp: ENSP00000453664.1:p.Met201Ile
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*268G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1869G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2997G>A
  hgvsp: ENSP00000370558.3:p.Met999Ile
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2997G>A
  hgvsp: ENSP00000403403.1:p.Met999Ile
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*195G>A
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6897
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44901
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Met972Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

14-73731307-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731307
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731307
    reference: chr 14
allele count: 1
allele frequency: 8.296689620841284e-6
allele num: 120530
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2950G>A
  hgvsp: ENSP00000451729.1:p.Ala984Thr
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1870G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*269G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*196G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*162G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.2998G>A
  hgvsp: ENSP00000370558.3:p.Ala1000Thr
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.603G>A
  hgvsp: ENSP00000453664.1:p.Ala202Thr
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.2998G>A
  hgvsp: ENSP00000451803.1:p.Ala1000Thr
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.2998G>A
  hgvsp: ENSP00000403403.1:p.Ala1000Thr
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2917G>A
  hgvsp: ENSP00000345395.5:p.Ala973Thr
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6896
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala973Thr
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

14-73731309-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731309
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731309
    reference: chr 14
allele count: 11
allele frequency: 9.123936231980227e-5
allele num: 120562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1872C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.3000C>T
  hgvsp: ENST00000381166.3:c.3000C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.3000C>T
  hgvsp: ENST00000554301.1:c.3000C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*271C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2919C>T
  hgvsp: ENST00000340738.5:c.2919C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2952C>T
  hgvsp: ENST00000555445.1:c.2952C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.605C>T
  hgvsp: ENST00000559759.1:c.605C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*164C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*198C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.3000C>T
  hgvsp: ENST00000427855.1:c.3000C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6898
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4286
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala973Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

14-73731310-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731310
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731310
    reference: chr 14
allele count: 147
allele frequency: 1.218683158959394e-3
allele num: 120622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1873G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.3001G>A
  hgvsp: ENSP00000370558.3:p.Val1001Met
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.3001G>A
  hgvsp: ENSP00000403403.1:p.Val1001Met
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*165G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.3001G>A
  hgvsp: ENSP00000451803.1:p.Val1001Met
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2953G>A
  hgvsp: ENSP00000451729.1:p.Val985Met
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*199G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.606G>A
  hgvsp: ENSP00000453664.1:p.Val203Met
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*272G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2920G>A
  hgvsp: ENSP00000345395.5:p.Val974Met
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3435
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6917
  bin: 9.75e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val974Met
num of homozygotes: 1
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

14-73731313-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731313
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731313
    reference: chr 14
allele count: 4
allele frequency: 3.31394674487581e-5
allele num: 120702
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*202C>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.3004C>G
  hgvsp: ENSP00000403403.1:p.Leu1002Val
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2923C>G
  hgvsp: ENSP00000345395.5:p.Leu975Val
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*168C>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1876C>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.609C>G
  hgvsp: ENSP00000453664.1:p.Leu204Val
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.3004C>G
  hgvsp: ENSP00000451803.1:p.Leu1002Val
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.3004C>G
  hgvsp: ENSP00000370558.3:p.Leu1002Val
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2956C>G
  hgvsp: ENSP00000451729.1:p.Leu986Val
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*275C>G
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7311
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4497
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu975Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

14-73731313-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731313
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731313
    reference: chr 14
allele count: 5675
allele frequency: 4.701661944292555e-2
allele num: 120702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.609C>T
  hgvsp: ENST00000559759.1:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2923C>T
  hgvsp: ENST00000340738.5:c.2923C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.3004C>T
  hgvsp: ENST00000427855.1:c.3004C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2956C>T
  hgvsp: ENST00000555445.1:c.2956C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*275C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1876C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.3004C>T
  hgvsp: ENST00000554301.1:c.3004C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*202C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.3004C>T
  hgvsp: ENST00000381166.3:c.3004C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*168C>T
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 9.25e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4497
  bin: 5.25e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 3.25e1
  variant carriers: 229
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 5.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 2.75e1
  variant carriers: 184
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 3.75e1
  variant carriers: 234
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 4.25e1
  variant carriers: 174
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 4.75e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 8.75e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 2.25e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 7311
  bin: 9.75e1
  variant carriers: 3316
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 5175
  bin: 6.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 8.25e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 6.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 7.25e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 7.75e1
  variant carriers: 95
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu975Leu
num of homozygotes: 428
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ

14-73731315-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731315
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731315
    reference: chr 14
allele count: 9
allele frequency: 7.455021371061264e-5
allele num: 120724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*170G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.3006G>A
  hgvsp: ENST00000427855.1:c.3006G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1878G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.3006G>A
  hgvsp: ENST00000554301.1:c.3006G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.3006G>A
  hgvsp: ENST00000381166.3:c.3006G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2958G>A
  hgvsp: ENST00000555445.1:c.2958G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*204G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2925G>A
  hgvsp: ENST00000340738.5:c.2925G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.611G>A
  hgvsp: ENST00000559759.1:c.611G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*277G>A
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5566
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu975Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

14-73731321-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731321
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731321
    reference: chr 14
allele count: 2
allele frequency: 1.656369569178275e-5
allele num: 120746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2964G>A
  hgvsp: ENST00000555445.1:c.2964G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.3012G>A
  hgvsp: ENST00000554301.1:c.3012G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*176G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*283G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2931G>A
  hgvsp: ENST00000340738.5:c.2931G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1884G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.3012G>A
  hgvsp: ENST00000381166.3:c.3012G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*210G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.617G>A
  hgvsp: ENST00000559759.1:c.617G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.3012G>A
  hgvsp: ENST00000427855.1:c.3012G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44559
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Glu977Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

14-73731324-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731324
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731324
    reference: chr 14
allele count: 1
allele frequency: 8.281162012653616e-6
allele num: 120756
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.3015T>C
  hgvsp: ENST00000554301.1:c.3015T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.3015T>C
  hgvsp: ENST00000381166.3:c.3015T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*286T>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.620T>C
  hgvsp: ENST00000559759.1:c.620T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.3015T>C
  hgvsp: ENST00000427855.1:c.3015T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1887T>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2934T>C
  hgvsp: ENST00000340738.5:c.2934T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*213T>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2967T>C
  hgvsp: ENST00000555445.1:c.2967T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*179T>C
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala978Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

14-73731325-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731325
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731325
    reference: chr 14
allele count: 5
allele frequency: 4.141609926610672e-5
allele num: 120726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1888G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*287G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.621G>A
  hgvsp: ENSP00000453664.1:p.Glu208Lys
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*214G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.3016G>A
  hgvsp: ENSP00000451803.1:p.Glu1006Lys
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2935G>A
  hgvsp: ENSP00000345395.5:p.Glu979Lys
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2968G>A
  hgvsp: ENSP00000451729.1:p.Glu990Lys
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.3016G>A
  hgvsp: ENSP00000370558.3:p.Glu1006Lys
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.3016G>A
  hgvsp: ENSP00000403403.1:p.Glu1006Lys
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*180G>A
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu979Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

14-73731334-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731334
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731334
    reference: chr 14
allele count: 7
allele frequency: 5.801521656251554e-5
allele num: 120658
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*223C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2977C>T
  hgvsp: ENSP00000451729.1:p.Arg993Cys
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.3025C>T
  hgvsp: ENSP00000451803.1:p.Arg1009Cys
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.3025C>T
  hgvsp: ENSP00000403403.1:p.Arg1009Cys
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2944C>T
  hgvsp: ENSP00000345395.5:p.Arg982Cys
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*296C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*189C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.630C>T
  hgvsp: ENSP00000453664.1:p.Arg211Cys
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.3025C>T
  hgvsp: ENSP00000370558.3:p.Arg1009Cys
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1897C>T
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg982Cys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

14-73731335-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731335
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731335
    reference: chr 14
allele count: 1
allele frequency: 8.290224167661493e-6
allele num: 120624
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*224G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.3026G>A
  hgvsp: ENSP00000451803.1:p.Arg1009His
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.3026G>A
  hgvsp: ENSP00000403403.1:p.Arg1009His
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2978G>A
  hgvsp: ENSP00000451729.1:p.Arg993His
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1898G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.3026G>A
  hgvsp: ENSP00000370558.3:p.Arg1009His
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.631G>A
  hgvsp: ENSP00000453664.1:p.Arg211His
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*297G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*190G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2945G>A
  hgvsp: ENSP00000345395.5:p.Arg982His
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg982His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

14-73731335-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731335
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731335
    reference: chr 14
allele count: 1
allele frequency: 8.290224167661493e-6
allele num: 120624
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2945G>T
  hgvsp: ENSP00000345395.5:p.Arg982Leu
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.3026G>T
  hgvsp: ENSP00000451803.1:p.Arg1009Leu
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.3026G>T
  hgvsp: ENSP00000403403.1:p.Arg1009Leu
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*190G>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*224G>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*297G>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.3026G>T
  hgvsp: ENSP00000370558.3:p.Arg1009Leu
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.2978G>T
  hgvsp: ENSP00000451729.1:p.Arg993Leu
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.631G>T
  hgvsp: ENSP00000453664.1:p.Arg211Leu
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1898G>T
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4166
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg982Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum

14-73731364-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731364
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731364
    reference: chr 14
allele count: 1
allele frequency: 8.324731111185109e-6
allele num: 120124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*326G>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*219G>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.3055G>T
  hgvsp: ENSP00000403403.1:p.Asp1019Tyr
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.660G>T
  hgvsp: ENSP00000453664.1:p.Asp221Tyr
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*253G>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.3055G>T
  hgvsp: ENSP00000370558.3:p.Asp1019Tyr
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2974G>T
  hgvsp: ENSP00000345395.5:p.Asp992Tyr
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1927G>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.3055G>T
  hgvsp: ENSP00000451803.1:p.Asp1019Tyr
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.3007G>T
  hgvsp: ENSP00000451729.1:p.Asp1003Tyr
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4166
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp992Tyr
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

14-73731369-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731369
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731369
    reference: chr 14
allele count: 1
allele frequency: 8.342231713828083e-6
allele num: 119872
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.665T>C
  hgvsp: ENST00000559759.1:c.665T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2979T>C
  hgvsp: ENST00000340738.5:c.2979T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.3012T>C
  hgvsp: ENST00000555445.1:c.3012T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.3060T>C
  hgvsp: ENST00000381166.3:c.3060T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1932T>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*258T>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*224T>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.3060T>C
  hgvsp: ENST00000427855.1:c.3060T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.3060T>C
  hgvsp: ENST00000554301.1:c.3060T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*331T>C
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4166
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Phe993Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

14-73731377-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731377
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731377
    reference: chr 14
allele count: 12
allele frequency: 1.004234522235426e-4
allele num: 119494
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.673C>T
  hgvsp: ENSP00000453664.1:p.Ala225Val
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*232C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.3068C>T
  hgvsp: ENSP00000403403.1:p.Ala1023Val
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.3068C>T
  hgvsp: ENSP00000451803.1:p.Ala1023Val
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1940C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2987C>T
  hgvsp: ENSP00000345395.5:p.Ala996Val
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*339C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.3068C>T
  hgvsp: ENSP00000370558.3:p.Ala1023Val
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.3020C>T
  hgvsp: ENSP00000451729.1:p.Ala1007Val
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*266C>T
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala996Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

14-73731378-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731378
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731378
    reference: chr 14
allele count: 27
allele frequency: 2.260965683565292e-4
allele num: 119418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.3069G>A
  hgvsp: ENST00000381166.3:c.3069G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*233G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.3069G>A
  hgvsp: ENST00000554301.1:c.3069G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*267G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*340G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2988G>A
  hgvsp: ENST00000340738.5:c.2988G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.3069G>A
  hgvsp: ENST00000427855.1:c.3069G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.674G>A
  hgvsp: ENST00000559759.1:c.674G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1941G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.3021G>A
  hgvsp: ENST00000555445.1:c.3021G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 9.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala996Ala
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-73731381-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731381
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731381
    reference: chr 14
allele count: 2
allele frequency: 1.675126053235506e-5
allele num: 119394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1944G>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*270G>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.3072G>T
  hgvsp: ENST00000381166.3:c.3072G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.677G>T
  hgvsp: ENST00000559759.1:c.677G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.3072G>T
  hgvsp: ENST00000427855.1:c.3072G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2991G>T
  hgvsp: ENST00000340738.5:c.2991G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*236G>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*343G>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.3072G>T
  hgvsp: ENST00000554301.1:c.3072G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.3024G>T
  hgvsp: ENST00000555445.1:c.3024G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5572
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4869
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly997Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum

14-73731385-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731385
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731385
    reference: chr 14
allele count: 16
allele frequency: 1.342011675501577e-4
allele num: 119224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.3076G>T
  hgvsp: ENSP00000370558.3:p.Ala1026Ser
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*347G>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.3076G>T
  hgvsp: ENSP00000451803.1:p.Ala1026Ser
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.681G>T
  hgvsp: ENSP00000453664.1:p.Ala228Ser
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*240G>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.3028G>T
  hgvsp: ENSP00000451729.1:p.Ala1010Ser
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*274G>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2995G>T
  hgvsp: ENSP00000345395.5:p.Ala999Ser
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1948G>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.3076G>T
  hgvsp: ENSP00000403403.1:p.Ala1026Ser
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4869
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5572
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala999Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

14-73731386-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731386
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731386
    reference: chr 14
allele count: 1
allele frequency: 8.400114241553686e-6
allele num: 119046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.682C>T
  hgvsp: ENSP00000453664.1:p.Ala228Val
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*348C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*241C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*275C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2996C>T
  hgvsp: ENSP00000345395.5:p.Ala999Val
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.3077C>T
  hgvsp: ENSP00000370558.3:p.Ala1026Val
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.3077C>T
  hgvsp: ENSP00000451803.1:p.Ala1026Val
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.3077C>T
  hgvsp: ENSP00000403403.1:p.Ala1026Val
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1949C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.3029C>T
  hgvsp: ENSP00000451729.1:p.Ala1010Val
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44574
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala999Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

14-73731387-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731387
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731387
    reference: chr 14
allele count: 2
allele frequency: 1.679825298168991e-5
allele num: 119060
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.3078T>G
  hgvsp: ENST00000381166.3:c.3078T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.683T>G
  hgvsp: ENST00000559759.1:c.683T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.2997T>G
  hgvsp: ENST00000340738.5:c.2997T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*276T>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.3030T>G
  hgvsp: ENST00000555445.1:c.3030T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1950T>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*349T>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.3078T>G
  hgvsp: ENST00000427855.1:c.3078T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*242T>G
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.3078T>G
  hgvsp: ENST00000554301.1:c.3078T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4869
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala999Ala
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff

14-73731390-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731390
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731390
    reference: chr 14
allele count: 5
allele frequency: 4.203870924347139e-5
allele num: 118938
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.3081G>A
  hgvsp: ENST00000381166.3:c.3081G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.3081G>A
  hgvsp: ENST00000554301.1:c.3081G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.3000G>A
  hgvsp: ENST00000340738.5:c.3000G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*279G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1953G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.686G>A
  hgvsp: ENST00000559759.1:c.686G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.3033G>A
  hgvsp: ENST00000555445.1:c.3033G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*245G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.3081G>A
  hgvsp: ENST00000427855.1:c.3081G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*352G>A
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4116
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4869
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly1000Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/14-73731391-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731391
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731391
    reference: chr 14
allele count: 1
allele frequency: 8.408024618696084e-6
allele num: 118934
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.3034C>A
  hgvsp: ENSP00000451729.1:p.Pro1012Thr
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.3082C>A
  hgvsp: ENSP00000403403.1:p.Pro1028Thr
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*353C>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.687C>A
  hgvsp: ENSP00000453664.1:p.Pro230Thr
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.3082C>A
  hgvsp: ENSP00000370558.3:p.Pro1028Thr
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*246C>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.3001C>A
  hgvsp: ENSP00000345395.5:p.Pro1001Thr
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1954C>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*280C>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.3082C>A
  hgvsp: ENSP00000451803.1:p.Pro1028Thr
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5574
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3555
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro1001Thr
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

14-73731392-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731392
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731392
    reference: chr 14
allele count: 1
allele frequency: 8.407600470825626e-6
allele num: 118940
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.3083C>T
  hgvsp: ENSP00000370558.3:p.Pro1028Leu
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*247C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1955C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*281C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.3002C>T
  hgvsp: ENSP00000345395.5:p.Pro1001Leu
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.3083C>T
  hgvsp: ENSP00000451803.1:p.Pro1028Leu
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.3083C>T
  hgvsp: ENSP00000403403.1:p.Pro1028Leu
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.3035C>T
  hgvsp: ENSP00000451729.1:p.Pro1012Leu
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*354C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.688C>T
  hgvsp: ENSP00000453664.1:p.Pro230Leu
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5574
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44571
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro1001Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

14-73731393-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731393
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731393
    reference: chr 14
allele count: 1
allele frequency: 8.40745909771149e-6
allele num: 118942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*248C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.3084C>T
  hgvsp: ENST00000427855.1:c.3084C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1956C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.3084C>T
  hgvsp: ENST00000554301.1:c.3084C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*355C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.689C>T
  hgvsp: ENST00000559759.1:c.689C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.3084C>T
  hgvsp: ENST00000381166.3:c.3084C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.3003C>T
  hgvsp: ENST00000340738.5:c.3003C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*282C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.3036C>T
  hgvsp: ENST00000555445.1:c.3036C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5574
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro1001Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

14-73731394-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731394
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731394
    reference: chr 14
allele count: 1
allele frequency: 8.408024618696084e-6
allele num: 118934
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*356C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.3085C>T
  hgvsp: ENST00000554301.1:c.3085C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.690C>T
  hgvsp: ENST00000559759.1:c.690C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*249C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.3004C>T
  hgvsp: ENST00000340738.5:c.3004C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.3085C>T
  hgvsp: ENST00000381166.3:c.3085C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.3037C>T
  hgvsp: ENST00000555445.1:c.3037C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.3085C>T
  hgvsp: ENST00000427855.1:c.3085C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*283C>T
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1957C>T
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5574
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu1002Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

14-73731396-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731396
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731396
    reference: chr 14
allele count: 1
allele frequency: 8.413117733169558e-6
allele num: 118862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.3087G>A
  hgvsp: ENST00000427855.1:c.3087G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.692G>A
  hgvsp: ENST00000559759.1:c.692G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.3006G>A
  hgvsp: ENST00000340738.5:c.3006G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*358G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.3087G>A
  hgvsp: ENST00000381166.3:c.3087G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*251G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1959G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.3087G>A
  hgvsp: ENST00000554301.1:c.3087G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.3039G>A
  hgvsp: ENST00000555445.1:c.3039G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*285G>A
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5574
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu1002Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

14-73731398-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731398
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731398
    reference: chr 14
allele count: 1
allele frequency: 8.415524960447032e-6
allele num: 118828
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*360G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.3089G>A
  hgvsp: ENSP00000451803.1:p.Gly1030Glu
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.3008G>A
  hgvsp: ENSP00000345395.5:p.Gly1003Glu
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.3041G>A
  hgvsp: ENSP00000451729.1:p.Gly1014Glu
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.3089G>A
  hgvsp: ENSP00000403403.1:p.Gly1030Glu
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.694G>A
  hgvsp: ENSP00000453664.1:p.Gly232Glu
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*253G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.3089G>A
  hgvsp: ENSP00000370558.3:p.Gly1030Glu
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*287G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1961G>A
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly1003Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-73731399-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731399
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731399
    reference: chr 14
allele count: 1
allele frequency: 8.418217021634817e-6
allele num: 118790
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.3090G>A
  hgvsp: ENST00000381166.3:c.3090G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.3090G>A
  hgvsp: ENST00000427855.1:c.3090G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*288G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*361G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.3009G>A
  hgvsp: ENST00000340738.5:c.3009G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.3090G>A
  hgvsp: ENST00000554301.1:c.3090G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.3042G>A
  hgvsp: ENST00000555445.1:c.3042G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.695G>A
  hgvsp: ENST00000559759.1:c.695G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1962G>A
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*254G>A
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly1003Gly
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

14-73731426-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731426
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731426
    reference: chr 14
allele count: 1
allele frequency: 8.473570932262274e-6
allele num: 118014
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451729
  ensembl transcript: ENST00000555445
  gene symbol: PAPLN
  hgvsc: ENST00000555445.1:c.3069T>C
  hgvsp: ENST00000555445.1:c.3069T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1989T>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000345395
  ensembl transcript: ENST00000340738
  gene symbol: PAPLN
  hgvsc: ENST00000340738.5:c.3036T>C
  hgvsp: ENST00000340738.5:c.3036T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000370558
  ensembl transcript: ENST00000381166
  gene symbol: PAPLN
  hgvsc: ENST00000381166.3:c.3117T>C
  hgvsp: ENST00000381166.3:c.3117T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000216658
  ensembl transcript: ENST00000216658
  gene symbol: PAPLN
  hgvsc: ENST00000216658.5:c.*315T>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000453664
  ensembl transcript: ENST00000559759
  gene symbol: PAPLN
  hgvsc: ENST00000559759.1:c.722T>C
  hgvsp: ENST00000559759.1:c.722T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000403403
  ensembl transcript: ENST00000427855
  gene symbol: PAPLN
  hgvsc: ENST00000427855.1:c.3117T>C
  hgvsp: ENST00000427855.1:c.3117T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000452455
  ensembl transcript: ENST00000555123
  gene symbol: PAPLN
  hgvsc: ENST00000555123.1:c.*281T>C
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451803
  ensembl transcript: ENST00000554301
  gene symbol: PAPLN
  hgvsc: ENST00000554301.1:c.3117T>C
  hgvsp: ENST00000554301.1:c.3117T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100767
  ensembl protein: ENSP00000451053
  ensembl transcript: ENST00000557061
  gene symbol: PAPLN
  hgvsc: ENST00000557061.1:c.*388T>C
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro1012Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ

14-73731432-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73731432
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 73731432
    reference: chr 14
allele count: 2
allele frequency: 1.697101350892675e-5
allele num: 117848
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100767
  ensembl transcript: ENST00000555700
  gene symbol: PAPLN
  hgvsc: ENST00000555700.1:n.1995C>T
  variant of: http://identifiers.org/hgnc/19262
canonical: true
consequence: splice region
filter: PASS
hgvs: c.3042C>T
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 11037
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2936
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22498
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5753
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4168
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2302
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13742
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3840
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4481
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.517450682852807e-4
allele num: 6590
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e-1

FS
type: SiteQuality
SIO_000300: 2.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.125e0

DP
type: SiteQuality
SIO_000300: 2.367036e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

QD
type: SiteQuality
SIO_000300: 1.383e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.922e1

VQSLOD
type: SiteQuality
SIO_000300: 7.78e-1

GenotypeDepth
all individuals: 606
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22497
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2934
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5750
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13795
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4479
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3840
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4166
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2303
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.217878455730118e-4
allele num: 16422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504166541319455e-5
allele num: 66482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.077e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

DP
type: SiteQuality
SIO_000300: 2.367331e6

MQRankSum
type: SiteQuality
SIO_000300: 6.31e-1

GenotypeDepth
all individuals: 7569
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 13720
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3841
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5754
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22495
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2932
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2303
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4168
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4477
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66474
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.512e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.761e0

DP
type: SiteQuality
SIO_000300: 2.366664e6

MQRankSum
type: SiteQuality
SIO_000300: 5.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.86e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.104e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeDepth
all individuals: 1580
bin: 6.25e1
variant carriers: 135

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4130
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5656
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2877
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13597
bin: 6.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4419
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23022
bin: 9.75e1
variant carriers: 1887

GenotypeQuality
all individuals: 2277
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3805
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 23
allele frequency: 2.555555555555556e-2
allele num: 900
num of homozygotes: 1

African
type: Population
allele count: 41
allele frequency: 3.94990366088632e-3
allele num: 10380
num of homozygotes: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

Latino
type: Population
allele count: 154
allele frequency: 1.330798479087452e-2
allele num: 11572
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 25
allele frequency: 3.793626707132018e-3
allele num: 6590
num of homozygotes: 0

South Asian
type: Population
allele count: 395
allele frequency: 2.407362262311068e-2
allele num: 16408
num of homozygotes: 10

European (Non-Finnish)
type: Population
allele count: 1277
allele frequency: 1.920994042962874e-2
allele num: 66476
num of homozygotes: 11

FS
type: SiteQuality
SIO_000300: 1.223e0

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.99e-1

DP
type: SiteQuality
SIO_000300: 2.393337e6

VQSLOD
type: SiteQuality
SIO_000300: 4.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.294e1

GenotypeDepth
all individuals: 9146
bin: 3.75e1
variant carriers: 14

GenotypeQuality
all individuals: 3917
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21874
bin: 9.75e1
variant carriers: 314

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4536
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14056
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5834
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2967
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4245
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2329
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.635767970707265e-5
allele num: 10378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 90
allele frequency: 1.353790613718411e-3
allele num: 66480
num of homozygotes: 0

South Asian
type: Population
allele count: 131
allele frequency: 7.99560546875e-3
allele num: 16384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 91
allele frequency: 1.382138517618469e-2
allele num: 6584
num of homozygotes: 1

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.448e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.58e-2

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.02e0

QD
type: SiteQuality
SIO_000300: 1.305e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

DP
type: SiteQuality
SIO_000300: 2.325348e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.23e-1

GenotypeDepth
all individuals: 53
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5855
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3937
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14062
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2338
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2985
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21646
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4553
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4256
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504755025881786e-5
allele num: 66456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.83e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.069e1

DP
type: SiteQuality
SIO_000300: 2.312707e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-2

FS
type: SiteQuality
SIO_000300: 1.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.78e-1

GenotypeDepth
all individuals: 899
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2963
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2334
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4246
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5803
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3935
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 64
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variant carriers: 0

GenotypeQuality
all individuals: 201
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variant carriers: 0

GenotypeQuality
all individuals: 21639
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variant carriers: 1

GenotypeQuality
all individuals: 9
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variant carriers: 0

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

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4544
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13495
bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15980
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507431637975218e-5
allele num: 66338
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.72e1

MQRankSum
type: SiteQuality
SIO_000300: -4.09e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

DP
type: SiteQuality
SIO_000300: 2.302979e6

VQSLOD
type: SiteQuality
SIO_000300: -2.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 3.233e0

GenotypeDepth
all individuals: 53
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5771
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2958
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1233
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4244
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4539
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13182
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21639
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3934
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2334
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15812
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.648784253184099e-5
allele num: 10364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.835e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.63e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

MQ
type: SiteQuality
SIO_000300: 5.857e1

DP
type: SiteQuality
SIO_000300: 2.297462e6

FS
type: SiteQuality
SIO_000300: 2.574e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.592e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e0

QD
type: SiteQuality
SIO_000300: 1.184e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeDepth
all individuals: 5813
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4236
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21637
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1565
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12648
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2952
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3934
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2335
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5706
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4520
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.045400961218753e-5
allele num: 66166
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15620
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e-1

QD
type: SiteQuality
SIO_000300: 1.358e1

MQ
type: SiteQuality
SIO_000300: 5.983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 1.869e0

DP
type: SiteQuality
SIO_000300: 2.288304e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.869e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.58e-1

GenotypeDepth
all individuals: 262
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2333
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
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variant carriers: 0

GenotypeQuality
all individuals: 5617
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 445
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variant carriers: 0

GenotypeQuality
all individuals: 2084
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4512
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2928
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21633
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 4235
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11892
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 6
allele frequency: 5.197505197505198e-4
allele num: 11544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66046
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15242
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.71e-1

DP
type: SiteQuality
SIO_000300: 2.274222e6

VQSLOD
type: SiteQuality
SIO_000300: 7.56e-1

QD
type: SiteQuality
SIO_000300: 1.073e1

FS
type: SiteQuality
SIO_000300: 1.306e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e-1

GenotypeDepth
all individuals: 2462
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 901
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
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GenotypeQuality
all individuals: 10813
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 322
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variant carriers: 0

GenotypeQuality
all individuals: 3932
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variant carriers: 0

GenotypeQuality
all individuals: 140
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 78
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variant carriers: 0

GenotypeQuality
all individuals: 597
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GenotypeQuality
all individuals: 21629
bin: 9.75e1
variant carriers: 34

GenotypeQuality
all individuals: 96
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4237
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variant carriers: 0

GenotypeQuality
all individuals: 135
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GenotypeQuality
all individuals: 2917
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4507
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2552
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5498
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 33
allele frequency: 5.010172167734491e-4
allele num: 65866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.52114390021296e-4
allele num: 6574
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 5.73e-1

DP
type: SiteQuality
SIO_000300: 2.256739e6

QD
type: SiteQuality
SIO_000300: 1.368e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.5e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

GenotypeDepth
all individuals: 825
bin: 1.75e1
variant carriers: 0

GenotypeDepth
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 89
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variant carriers: 0

GenotypeQuality
all individuals: 92
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variant carriers: 0

GenotypeQuality
all individuals: 591
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518095700752976e-5
allele num: 65872
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
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SIO_000300: 5.625e0

ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -5.0e-4

VQSLOD
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QD
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DP
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MQRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.39e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.523368472366096e-5
allele num: 65644
num of homozygotes: 0

African
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allele frequency: 0.0e0
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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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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14230
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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FS
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InbreedingCoeff
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SIO_000300: 2.5e-3

BaseQRankSum
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DP
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.86e1

ClippingRankSum
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SIO_000300: -2.021e0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65668
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 9.682416731216112e-5
allele num: 10328
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-1

MQ
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SIO_000300: 5.904e1

QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.914e0

InbreedingCoeff
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SIO_000300: -8.0e-4

FS
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ReadPosRankSum
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SIO_000300: 4.54e-1

DP
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SIO_000300: 2.240615e6

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-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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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

African
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allele count: 3
allele frequency: 2.913752913752914e-4
allele num: 10296
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65356
num of homozygotes: 0

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
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.82e-1

MQRankSum
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BaseQRankSum
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VQSLOD
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FS
type: SiteQuality
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QD
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MQ
type: SiteQuality
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DP
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InbreedingCoeff
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SIO_000300: -1.5e-3

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2
allele frequency: 3.062036866923877e-5
allele num: 65316
num of homozygotes: 0

South Asian
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allele count: 28
allele frequency: 2.106213329321498e-3
allele num: 13294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 2.214989e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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QD
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MQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 65034
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European (Finnish)
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South Asian
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Latino
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allele frequency: 8.698677800974252e-5
allele num: 11496
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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African
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Other
type: Population
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South Asian
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allele frequency: 8.003841844085161e-5
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Latino
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European (Non-Finnish)
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QD
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ClippingRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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MQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
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African
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allele count: 2
allele frequency: 1.951981260979895e-4
allele num: 10246
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538745614574998e-5
allele num: 64988
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.643603436266543e-4
allele num: 8614
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.346e1

FS
type: SiteQuality
SIO_000300: 9.343999999999999e0

DP
type: SiteQuality
SIO_000300: 2.183721e6

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 5.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-2

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3896
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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.62064504204787e-5
allele num: 64926
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12386
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.351e1

MQ
type: SiteQuality
SIO_000300: 5.917e1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e-1

FS
type: SiteQuality
SIO_000300: 4.741e0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.96e0

DP
type: SiteQuality
SIO_000300: 2.179531e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64944
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12366
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.704735376044568e-5
allele num: 11488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.442e0

MQRankSum
type: SiteQuality
SIO_000300: -6.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.276e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.93e-1

DP
type: SiteQuality
SIO_000300: 2.177294e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.62e-1

QD
type: SiteQuality
SIO_000300: 1.379e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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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GenotypeQuality
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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: 2130
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54273372415921e-5
allele num: 64820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12126
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.3157e1

VQSLOD
type: SiteQuality
SIO_000300: -1.595e0

QD
type: SiteQuality
SIO_000300: 1.599e1

MQRankSum
type: SiteQuality
SIO_000300: 9.67e-1

DP
type: SiteQuality
SIO_000300: 2.171131e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

GenotypeQuality
all individuals: 180
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13818
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525646111128063e-5
allele num: 65546
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.138e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.908e0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 3.772533e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.354e1

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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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.67305088024763e-5
allele num: 10338
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65592
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

MQRankSum
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SIO_000300: -1.268e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.778289e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.179999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.004e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
type: Population
allele count: 2
allele frequency: 1.934610176049526e-4
allele num: 10338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524343770007012e-5
allele num: 65602
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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -3.04e-1

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.988e1

DP
type: SiteQuality
SIO_000300: 3.779327e6

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1525
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65624
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

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

African
type: Population
allele count: 69
allele frequency: 6.673114119922631e-3
allele num: 10340
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.298850574712644e-3
allele num: 870
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.781191e6

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
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QD
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 5.590000000000001e-1

VQSLOD
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SIO_000300: 2.11e0

MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.522811719558994e-5
allele num: 65668
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.98e-1

BaseQRankSum
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MQ
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InbreedingCoeff
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SIO_000300: -3.0e-4

ClippingRankSum
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SIO_000300: -6.909999999999999e-1

QD
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SIO_000300: 1.235e1

DP
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MQRankSum
type: SiteQuality
SIO_000300: -4.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.522487134983709e-5
allele num: 65682
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10342
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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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num of homozygotes: 0

VQSLOD
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MQRankSum
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QD
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MQ
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: -1.285e0

InbreedingCoeff
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SIO_000300: -3.0e-4

FS
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SIO_000300: 1.586e0

DP
type: SiteQuality
SIO_000300: 3.785857e6

BaseQRankSum
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SIO_000300: -3.899e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65716
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

South Asian
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allele frequency: 1.385425325574952e-4
allele num: 14436
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.787686e6

MQRankSum
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BaseQRankSum
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SIO_000300: -2.037e0

QD
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SIO_000300: 7.9e0

MQ
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SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: 2.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
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SIO_000300: 1.25e0

VQSLOD
type: SiteQuality
SIO_000300: -8.929e-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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variant carriers: 67

GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 68
allele frequency: 1.028402044705242e-3
allele num: 66122
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15762
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MQ
type: SiteQuality
SIO_000300: 6.013e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

BaseQRankSum
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SIO_000300: -2.421e0

QD
type: SiteQuality
SIO_000300: 1.57e1

DP
type: SiteQuality
SIO_000300: 3.827767e6

VQSLOD
type: SiteQuality
SIO_000300: 6.58e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 398

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 331
allele frequency: 5.005898188197574e-3
allele num: 66122
num of homozygotes: 0

African
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allele count: 6
allele frequency: 5.791505791505791e-4
allele num: 10360
num of homozygotes: 0

European (Finnish)
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allele count: 49
allele frequency: 7.408527366192924e-3
allele num: 6614
num of homozygotes: 0

East Asian
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allele count: 3
allele frequency: 3.469010175763182e-4
allele num: 8648
num of homozygotes: 0

South Asian
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allele count: 6
allele frequency: 3.806623524933384e-4
allele num: 15762
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

DP
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VQSLOD
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MQRankSum
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ClippingRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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MQ
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 11570
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15834
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.527043948324833e-5
allele num: 65486
num of homozygotes: 0

FS
type: SiteQuality
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QD
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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MQ
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DP
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10356
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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 1.261193088661874e-4
allele num: 15858
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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DP
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
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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African
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523043650431021e-5
allele num: 65658
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

QD
type: SiteQuality
SIO_000300: 8.35e0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: -2.195e0

MQ
type: SiteQuality
SIO_000300: 5.327e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.816e0

FS
type: SiteQuality
SIO_000300: 5.25e-1

DP
type: SiteQuality
SIO_000300: 3.784874e6

GenotypeDepth
all individuals: 3212
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 808
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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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variant carriers: 0

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

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.252661906551422e-4
allele num: 15966
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66184
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.69e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.855e0

VQSLOD
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SIO_000300: -2.813e0

QD
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SIO_000300: 1.073e1

FS
type: SiteQuality
SIO_000300: 1.027e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.466e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.39e-1

MQ
type: SiteQuality
SIO_000300: 5.223e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 3.798724e6

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1972
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variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66194
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.251094707869386e-4
allele num: 15986
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.077e0

FS
type: SiteQuality
SIO_000300: 2.986e0

MQ
type: SiteQuality
SIO_000300: 5.223e1

DP
type: SiteQuality
SIO_000300: 3.799087e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.157e0

MQRankSum
type: SiteQuality
SIO_000300: -3.266e0

VQSLOD
type: SiteQuality
SIO_000300: -2.676e0

QD
type: SiteQuality
SIO_000300: 1.404e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

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

GenotypeQuality
all individuals: 86
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

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: 94
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variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.248595330253465e-4
allele num: 16018
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66186
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.62e0

QD
type: SiteQuality
SIO_000300: 1.3e1

DP
type: SiteQuality
SIO_000300: 3.799666e6

VQSLOD
type: SiteQuality
SIO_000300: 9.24e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.182e0

FS
type: SiteQuality
SIO_000300: 2.941e0

MQ
type: SiteQuality
SIO_000300: 5.281e1

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 86
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 84

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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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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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
all individuals: 40
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GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16154
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 2.895193977996526e-4
allele num: 10362
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.592016588906169e-4
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 78
allele frequency: 1.177891875566294e-3
allele num: 66220
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.8043e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 5.31e0

QD
type: SiteQuality
SIO_000300: 1.255e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.47e-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
all individuals: 2018
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510026576467746e-5
allele num: 66224
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16176
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.76e-1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.941e1

FS
type: SiteQuality
SIO_000300: 3.189e0

InbreedingCoeff
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BaseQRankSum
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QD
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SIO_000300: 1.359e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-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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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.175889328063241e-5
allele num: 16192
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66240
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -1.925e0

BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.279e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.08e-1

DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 4
allele frequency: 6.039559112184811e-5
allele num: 66230
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.848428835489834e-4
allele num: 16230
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 2.451e0

QD
type: SiteQuality
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MQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: 4.4e-3

BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 3.799989e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6867
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44927
bin: 9.75e1
variant carriers: 146

GenotypeQuality
all individuals: 1341
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 132
allele frequency: 1.27437729291369e-2
allele num: 10358
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.058518026450872e-5
allele num: 66236
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.319281271596407e-4
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.842072946088665e-4
allele num: 16286
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 4.34e0

QD
type: SiteQuality
SIO_000300: 1.385e1

MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

FS
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

DP
type: SiteQuality
SIO_000300: 3.802856e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6094
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1905
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46059
bin: 9.75e1
variant carriers: 4

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.039376736320811e-5
allele num: 66232
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.105e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.072e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 3.879393e6

VQSLOD
type: SiteQuality
SIO_000300: 6.56e0

QD
type: SiteQuality
SIO_000300: 1.493e1

GenotypeQuality
all individuals: 46059
bin: 9.75e1
variant carriers: 5203

GenotypeQuality
all individuals: 955
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 8.25e1
variant carriers: 7

GenotypeQuality
all individuals: 54
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 436
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6094
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1288
bin: 7.75e1
variant carriers: 6

GenotypeQuality
all individuals: 802
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1905
bin: 6.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1411
bin: 9.25e1
variant carriers: 16

European (Finnish)
type: Population
allele count: 16
allele frequency: 2.419110976716057e-3
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 408
allele frequency: 6.160164271047228e-3
allele num: 66232
num of homozygotes: 3

Latino
type: Population
allele count: 582
allele frequency: 5.027643400138217e-2
allele num: 11576
num of homozygotes: 8

Other
type: Population
allele count: 36
allele frequency: 3.973509933774835e-2
allele num: 906
num of homozygotes: 3

South Asian
type: Population
allele count: 2613
allele frequency: 1.59601759100904e-1
allele num: 16372
num of homozygotes: 238

African
type: Population
allele count: 1936
allele frequency: 1.869086696273412e-1
allele num: 10358
num of homozygotes: 175

East Asian
type: Population
allele count: 84
allele frequency: 9.717723276260991e-3
allele num: 8644
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.072e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.56e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.105e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

DP
type: SiteQuality
SIO_000300: 3.879393e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

QD
type: SiteQuality
SIO_000300: 1.493e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1587
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6615
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1492
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1480
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44560
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 7.25e1
variant carriers: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.665571235260003e-5
allele num: 10346
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.058244512213533e-5
allele num: 66238
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.81e0

DP
type: SiteQuality
SIO_000300: 3.578599e6

MQ
type: SiteQuality
SIO_000300: 5.94e1

MQRankSum
type: SiteQuality
SIO_000300: 3.99e-1

FS
type: SiteQuality
SIO_000300: 1.092e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.355e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.75e-1

QD
type: SiteQuality
SIO_000300: 1.305e1

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2129
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1587
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1507
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1483
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6647
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1077
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.019506008816958e-5
allele num: 66236
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

DP
type: SiteQuality
SIO_000300: 3.578196e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

QD
type: SiteQuality
SIO_000300: 1.398e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.047e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.754e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

GenotypeQuality
all individuals: 6630
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 935
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1592
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1512
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2135
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44564
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1485
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66242
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.082725060827251e-5
allele num: 16440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.886e1

MQRankSum
type: SiteQuality
SIO_000300: 1.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.162e0

DP
type: SiteQuality
SIO_000300: 3.578284e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.91e-1

QD
type: SiteQuality
SIO_000300: 1.502e1

VQSLOD
type: SiteQuality
SIO_000300: -1.515e0

GenotypeQuality
all individuals: 1512
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 935
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2131
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44564
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1484
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1591
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1083
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6562
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66212
num of homozygotes: 0

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

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

African
type: Population
allele count: 5
allele frequency: 4.838397522740468e-4
allele num: 10334
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.534e0

DP
type: SiteQuality
SIO_000300: 3.578002e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.7e0

QD
type: SiteQuality
SIO_000300: 1.319e1

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44571
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 79
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1517
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1598
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6472
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1501
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1083
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2126
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 6
allele frequency: 3.641660597232338e-4
allele num: 16476
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.691800736576855e-5
allele num: 10318
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66130
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

DP
type: SiteQuality
SIO_000300: 3.577311e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

QD
type: SiteQuality
SIO_000300: 1.43e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.07e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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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: 2.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1600
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66100
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
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SIO_000300: 3.576295e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.56e-1

ClippingRankSum
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SIO_000300: -9.429999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.768e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.309e0

MQRankSum
type: SiteQuality
SIO_000300: -5.43e-1

QD
type: SiteQuality
SIO_000300: 1.302e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

GenotypeQuality
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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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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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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: 1.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-5
allele num: 66100
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.429999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.309e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.56e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.768e0

DP
type: SiteQuality
SIO_000300: 3.576295e6

QD
type: SiteQuality
SIO_000300: 1.302e1

MQRankSum
type: SiteQuality
SIO_000300: -5.43e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65794
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.007e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 3.565981e6

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 3.751e0

QD
type: SiteQuality
SIO_000300: 1.384e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65662
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

African
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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
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
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SIO_000300: -2.377e0

QD
type: SiteQuality
SIO_000300: 1.155e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 3.561257e6

MQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

FS
type: SiteQuality
SIO_000300: 2.948e0

VQSLOD
type: SiteQuality
SIO_000300: -5.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

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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bin: 9.75e1
variant carriers: 12

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817520901490367e-4
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9820
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.594706798131811e-4
allele num: 11562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.165622804069537e-5
allele num: 65462
num of homozygotes: 0

Other
type: Population
allele count: 0
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num of homozygotes: 0

QD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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VQSLOD
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 3.555237e6

GenotypeQuality
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variant carriers: 27

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16508
num of homozygotes: 0

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

Latino
type: Population
allele count: 26
allele frequency: 2.249134948096886e-3
allele num: 11560
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.528537800739812e-5
allele num: 65422
num of homozygotes: 0

QD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
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MQ
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DP
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.057636447026449e-5
allele num: 65410
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
allele num: 8630
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.848e0

DP
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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QD
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MQ
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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allele frequency: 1.837222120154327e-4
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Other
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Latino
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East Asian
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South Asian
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European (Finnish)
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MQ
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FS
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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South Asian
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Other
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ReadPosRankSum
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VQSLOD
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DP
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FS
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MQRankSum
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MQ
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BaseQRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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European (Finnish)
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South Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 65222
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Latino
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BaseQRankSum
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ClippingRankSum
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QD
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MQ
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ReadPosRankSum
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MQRankSum
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VQSLOD
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FS
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DP
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 7.672477289467223e-5
allele num: 65168
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East Asian
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VQSLOD
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QD
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MQ
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ClippingRankSum
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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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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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East Asian
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allele num: 8624
num of homozygotes: 0

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

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

African
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Other
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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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MQ
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ClippingRankSum
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FS
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MQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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Other
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East Asian
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African
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BaseQRankSum
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FS
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MQ
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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South Asian
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Latino
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VQSLOD
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MQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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MQ
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ReadPosRankSum
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BaseQRankSum
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QD
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SIO_000300: 9.050000000000001e0

DP
type: SiteQuality
SIO_000300: 3.542214e6

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 120
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1512
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1023
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1894
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1504
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1483
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44571
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 69
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5409
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1603
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65122
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.875e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.067e0

MQRankSum
type: SiteQuality
SIO_000300: -6.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.175e-1

DP
type: SiteQuality
SIO_000300: 3.541611e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 3.424e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

GenotypeQuality
all individuals: 74
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1024
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1603
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1505
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5381
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1484
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1896
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 945
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1548
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44570
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65092
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.540823e6

QD
type: SiteQuality
SIO_000300: 1.256e1

FS
type: SiteQuality
SIO_000300: 5.252e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

VQSLOD
type: SiteQuality
SIO_000300: 9.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.92e-1

GenotypeQuality
all individuals: 121
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1484
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1603
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44570
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1896
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5353
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1024
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1548
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1505
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536995481233285e-5
allele num: 65062
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9540
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.79e0

FS
type: SiteQuality
SIO_000300: 8.82e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.844e0

MQRankSum
type: SiteQuality
SIO_000300: -1.206e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.104e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.388e0

MQ
type: SiteQuality
SIO_000300: 5.904e1

DP
type: SiteQuality
SIO_000300: 3.540379e6

GenotypeQuality
all individuals: 1624
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44569
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1852
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1467
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5088
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1600
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9290
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.159999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.697e0

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-1

QD
type: SiteQuality
SIO_000300: 1.092e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.34e-1

DP
type: SiteQuality
SIO_000300: 3.532159e6

FS
type: SiteQuality
SIO_000300: 6.005e0

MQ
type: SiteQuality
SIO_000300: 6.0e1