14-31539047-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31539047
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31539047
    reference: chr 14
allele count: 3
allele frequency: 2.471495419495156e-5
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.139-2A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.139-2A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.139-2A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.139-2A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.139-2A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.40-2A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.139-2A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.139-2A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.139-2A>G
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17223
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56148
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 6.75e1
  variant carriers: 0
hgvs: c.139-2A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

14-31539050-GCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31539050
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31539048
    reference: chr 14
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.143_144delCT
  hgvsp: ENSP00000322508.6:p.Ser48PhefsTer3
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.44_45delCT
  hgvsp: ENSP00000451614.1:p.Ser15PhefsTer3
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.143_144delCT
  hgvsp: ENSP00000452383.1:p.Ser48PhefsTer3
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.143_144delCT
  hgvsp: ENSP00000216366.4:p.Ser48PhefsTer3
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.143_144delCT
  hgvsp: ENSP00000438170.2:p.Ser48PhefsTer3
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.143_144delCT
  hgvsp: ENSP00000450768.1:p.Ser48PhefsTer3
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.143_144delCT
  hgvsp: ENSP00000451918.1:p.Ser48PhefsTer3
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.143_144delCT
  hgvsp: ENSP00000451479.1:p.Ser48PhefsTer3
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.143_144delCT
  hgvsp: ENSP00000334484.4:p.Ser48PhefsTer3
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4775
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17222
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser48PhefsTer3
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: GCT
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

14-31539051-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31539051
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31539051
    reference: chr 14
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.141C>T
  hgvsp: ENST00000557346.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.141C>T
  hgvsp: ENST00000542754.2:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.141C>T
  hgvsp: ENST00000554345.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.141C>T
  hgvsp: ENST00000313566.6:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.141C>T
  hgvsp: ENST00000556232.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.42C>T
  hgvsp: ENST00000556480.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.141C>T
  hgvsp: ENST00000554609.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.141C>T
  hgvsp: ENST00000216366.4:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.141C>T
  hgvsp: ENST00000334725.4:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4775
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17222
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: c.141C>T
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

14-31539057-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31539057
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31539057
    reference: chr 14
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.147C>G
  hgvsp: ENSP00000452383.1:p.Phe49Leu
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.147C>G
  hgvsp: ENSP00000334484.4:p.Phe49Leu
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.147C>G
  hgvsp: ENSP00000451918.1:p.Phe49Leu
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.147C>G
  hgvsp: ENSP00000451479.1:p.Phe49Leu
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.147C>G
  hgvsp: ENSP00000450768.1:p.Phe49Leu
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.147C>G
  hgvsp: ENSP00000438170.2:p.Phe49Leu
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.147C>G
  hgvsp: ENSP00000322508.6:p.Phe49Leu
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.147C>G
  hgvsp: ENSP00000216366.4:p.Phe49Leu
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.48C>G
  hgvsp: ENSP00000451614.1:p.Phe16Leu
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17222
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe49Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

14-31539064-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31539064
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31539064
    reference: chr 14
allele count: 82
allele frequency: 6.755420813286759e-4
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.154T>C
  hgvsp: ENSP00000334484.4:p.Tyr52His
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.154T>C
  hgvsp: ENSP00000450768.1:p.Tyr52His
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.154T>C
  hgvsp: ENSP00000438170.2:p.Tyr52His
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.154T>C
  hgvsp: ENSP00000322508.6:p.Tyr52His
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.154T>C
  hgvsp: ENSP00000216366.4:p.Tyr52His
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.154T>C
  hgvsp: ENSP00000451918.1:p.Tyr52His
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.154T>C
  hgvsp: ENSP00000451479.1:p.Tyr52His
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.154T>C
  hgvsp: ENSP00000452383.1:p.Tyr52His
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.55T>C
  hgvsp: ENSP00000451614.1:p.Tyr19His
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2779
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17281
  bin: 9.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr52His
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

14-31539065-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31539065
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31539065
    reference: chr 14
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.155A>G
  hgvsp: ENSP00000334484.4:p.Tyr52Cys
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.56A>G
  hgvsp: ENSP00000451614.1:p.Tyr19Cys
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.155A>G
  hgvsp: ENSP00000438170.2:p.Tyr52Cys
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.155A>G
  hgvsp: ENSP00000322508.6:p.Tyr52Cys
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.155A>G
  hgvsp: ENSP00000451479.1:p.Tyr52Cys
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.155A>G
  hgvsp: ENSP00000452383.1:p.Tyr52Cys
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.155A>G
  hgvsp: ENSP00000450768.1:p.Tyr52Cys
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.155A>G
  hgvsp: ENSP00000451918.1:p.Tyr52Cys
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.155A>G
  hgvsp: ENSP00000216366.4:p.Tyr52Cys
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr52Cys
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

14-31539070-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31539070
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31539070
    reference: chr 14
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.160G>T
  hgvsp: ENSP00000450768.1:p.Asp54Tyr
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.160G>T
  hgvsp: ENSP00000451479.1:p.Asp54Tyr
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.160G>T
  hgvsp: ENSP00000334484.4:p.Asp54Tyr
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.160G>T
  hgvsp: ENSP00000438170.2:p.Asp54Tyr
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.160G>T
  hgvsp: ENSP00000216366.4:p.Asp54Tyr
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.160G>T
  hgvsp: ENSP00000322508.6:p.Asp54Tyr
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.160G>T
  hgvsp: ENSP00000452383.1:p.Asp54Tyr
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.61G>T
  hgvsp: ENSP00000451614.1:p.Asp21Tyr
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.160G>T
  hgvsp: ENSP00000451918.1:p.Asp54Tyr
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17228
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp54Tyr
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD

14-31539078-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31539078
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31539078
    reference: chr 14
allele count: 3
allele frequency: 2.47161759132627e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.168G>A
  hgvsp: ENST00000216366.4:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.168G>A
  hgvsp: ENST00000554345.1:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.168G>A
  hgvsp: ENST00000556232.1:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.168G>A
  hgvsp: ENST00000554609.1:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.69G>A
  hgvsp: ENST00000556480.1:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.168G>A
  hgvsp: ENST00000542754.2:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.168G>A
  hgvsp: ENST00000334725.4:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.168G>A
  hgvsp: ENST00000313566.6:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.168G>A
  hgvsp: ENST00000557346.1:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17230
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys56Lys
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP

14-31539081-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31539081
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31539081
    reference: chr 14
allele count: 2
allele frequency: 1.647690761397901e-5
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.171G>A
  hgvsp: ENST00000334725.4:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.171G>A
  hgvsp: ENST00000216366.4:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.72G>A
  hgvsp: ENST00000556480.1:c.72G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.171G>A
  hgvsp: ENST00000554609.1:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.171G>A
  hgvsp: ENST00000313566.6:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.171G>A
  hgvsp: ENST00000542754.2:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.171G>A
  hgvsp: ENST00000554345.1:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.171G>A
  hgvsp: ENST00000556232.1:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.171G>A
  hgvsp: ENST00000557346.1:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17230
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu57Leu
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum

14-31539085-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31539085
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31539085
    reference: chr 14
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.175T>C
  hgvsp: ENSP00000451479.1:p.Tyr59His
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.76T>C
  hgvsp: ENSP00000451614.1:p.Tyr26His
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.175T>C
  hgvsp: ENSP00000438170.2:p.Tyr59His
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.175T>C
  hgvsp: ENSP00000334484.4:p.Tyr59His
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.175T>C
  hgvsp: ENSP00000452383.1:p.Tyr59His
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.175T>C
  hgvsp: ENSP00000322508.6:p.Tyr59His
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.175T>C
  hgvsp: ENSP00000216366.4:p.Tyr59His
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.175T>C
  hgvsp: ENSP00000450768.1:p.Tyr59His
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.175T>C
  hgvsp: ENSP00000451918.1:p.Tyr59His
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56149
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr59His
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

14-31539088-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31539088
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31539088
    reference: chr 14
allele count: 5
allele frequency: 4.11936265221045e-5
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.178C>T
  hgvsp: ENSP00000450768.1:p.Arg60Trp
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.178C>T
  hgvsp: ENSP00000438170.2:p.Arg60Trp
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.178C>T
  hgvsp: ENSP00000322508.6:p.Arg60Trp
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.178C>T
  hgvsp: ENSP00000216366.4:p.Arg60Trp
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.178C>T
  hgvsp: ENSP00000451918.1:p.Arg60Trp
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.178C>T
  hgvsp: ENSP00000452383.1:p.Arg60Trp
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.178C>T
  hgvsp: ENSP00000334484.4:p.Arg60Trp
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.178C>T
  hgvsp: ENSP00000451479.1:p.Arg60Trp
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.79C>T
  hgvsp: ENSP00000451614.1:p.Arg27Trp
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17230
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56149
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg60Trp
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

14-31539089-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31539089
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31539089
    reference: chr 14
allele count: 3
allele frequency: 2.47161759132627e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.80G>A
  hgvsp: ENSP00000451614.1:p.Arg27Gln
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.179G>A
  hgvsp: ENSP00000452383.1:p.Arg60Gln
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.179G>A
  hgvsp: ENSP00000451918.1:p.Arg60Gln
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.179G>A
  hgvsp: ENSP00000334484.4:p.Arg60Gln
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.179G>A
  hgvsp: ENSP00000438170.2:p.Arg60Gln
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.179G>A
  hgvsp: ENSP00000450768.1:p.Arg60Gln
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.179G>A
  hgvsp: ENSP00000216366.4:p.Arg60Gln
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.179G>A
  hgvsp: ENSP00000322508.6:p.Arg60Gln
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.179G>A
  hgvsp: ENSP00000451479.1:p.Arg60Gln
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17231
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg60Gln
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

14-31539105-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31539105
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31539105
    reference: chr 14
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.195C>T
  hgvsp: ENST00000554345.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.195C>T
  hgvsp: ENST00000557346.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.195C>T
  hgvsp: ENST00000216366.4:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.195C>T
  hgvsp: ENST00000542754.2:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.195C>T
  hgvsp: ENST00000554609.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.195C>T
  hgvsp: ENST00000334725.4:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.96C>T
  hgvsp: ENST00000556480.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.195C>T
  hgvsp: ENST00000556232.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.195C>T
  hgvsp: ENST00000313566.6:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4778
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17229
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu65Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

14-31539109-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31539109
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31539109
    reference: chr 14
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.199A>G
  hgvsp: ENSP00000438170.2:p.Ile67Val
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.199A>G
  hgvsp: ENSP00000450768.1:p.Ile67Val
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.199A>G
  hgvsp: ENSP00000334484.4:p.Ile67Val
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.199A>G
  hgvsp: ENSP00000452383.1:p.Ile67Val
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.199A>G
  hgvsp: ENSP00000451479.1:p.Ile67Val
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.199A>G
  hgvsp: ENSP00000216366.4:p.Ile67Val
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.199A>G
  hgvsp: ENSP00000451918.1:p.Ile67Val
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.199A>G
  hgvsp: ENSP00000322508.6:p.Ile67Val
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.100A>G
  hgvsp: ENSP00000451614.1:p.Ile34Val
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4778
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17228
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile67Val
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

14-31539110-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31539110
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31539110
    reference: chr 14
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.200T>C
  hgvsp: ENSP00000438170.2:p.Ile67Thr
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.200T>C
  hgvsp: ENSP00000334484.4:p.Ile67Thr
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.200T>C
  hgvsp: ENSP00000216366.4:p.Ile67Thr
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.200T>C
  hgvsp: ENSP00000452383.1:p.Ile67Thr
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.200T>C
  hgvsp: ENSP00000322508.6:p.Ile67Thr
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.200T>C
  hgvsp: ENSP00000451918.1:p.Ile67Thr
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.101T>C
  hgvsp: ENSP00000451614.1:p.Ile34Thr
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.200T>C
  hgvsp: ENSP00000450768.1:p.Ile67Thr
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.200T>C
  hgvsp: ENSP00000451479.1:p.Ile67Thr
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17229
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile67Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

14-31539114-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31539114
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31539114
    reference: chr 14
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.105G>A
  hgvsp: ENST00000556480.1:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.204G>A
  hgvsp: ENST00000554609.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.204G>A
  hgvsp: ENST00000557346.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.204G>A
  hgvsp: ENST00000216366.4:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.204G>A
  hgvsp: ENST00000313566.6:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.204G>A
  hgvsp: ENST00000554345.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.204G>A
  hgvsp: ENST00000334725.4:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.204G>A
  hgvsp: ENST00000556232.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.204G>A
  hgvsp: ENST00000542754.2:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17228
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val68Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

14-31539120-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31539120
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31539120
    reference: chr 14
allele count: 2
allele frequency: 1.648478454386601e-5
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.210A>T
  hgvsp: ENST00000557346.1:c.210A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.210A>T
  hgvsp: ENST00000334725.4:c.210A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.210A>T
  hgvsp: ENST00000542754.2:c.210A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.210A>T
  hgvsp: ENST00000556232.1:c.210A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.210A>T
  hgvsp: ENST00000216366.4:c.210A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.210A>T
  hgvsp: ENST00000554609.1:c.210A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.210A>T
  hgvsp: ENST00000554345.1:c.210A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.111A>T
  hgvsp: ENST00000556480.1:c.111A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.210A>T
  hgvsp: ENST00000313566.6:c.210A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17228
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56149
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly70Gly
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: A
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

14-31539132-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31539132
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31539132
    reference: chr 14
allele count: 4
allele frequency: 3.297989875171083e-5
allele num: 121286
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.222T>C
  hgvsp: ENST00000216366.4:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.222T>C
  hgvsp: ENST00000556232.1:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.222T>C
  hgvsp: ENST00000542754.2:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.222T>C
  hgvsp: ENST00000554345.1:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.123T>C
  hgvsp: ENST00000556480.1:c.123T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.222T>C
  hgvsp: ENST00000554609.1:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.222T>C
  hgvsp: ENST00000313566.6:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.222T>C
  hgvsp: ENST00000334725.4:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.222T>C
  hgvsp: ENST00000557346.1:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17230
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56150
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr74Thr
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

14-31539132-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31539132
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31539132
    reference: chr 14
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.222T>G
  hgvsp: ENST00000334725.4:c.222T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.222T>G
  hgvsp: ENST00000216366.4:c.222T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.222T>G
  hgvsp: ENST00000554609.1:c.222T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.222T>G
  hgvsp: ENST00000557346.1:c.222T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.222T>G
  hgvsp: ENST00000542754.2:c.222T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.222T>G
  hgvsp: ENST00000313566.6:c.222T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.222T>G
  hgvsp: ENST00000554345.1:c.222T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.123T>G
  hgvsp: ENST00000556480.1:c.123T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.222T>G
  hgvsp: ENST00000556232.1:c.222T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr74Thr
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

14-31539136-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31539136
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31539136
    reference: chr 14
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.225+1G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.225+1G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.225+1G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.225+1G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.225+1G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.225+1G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.225+1G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.225+1G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.126+1G>A
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17228
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: c.225+1G>A
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum

14-31539145-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31539145
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31539145
    reference: chr 14
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.126+10T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.225+10T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.225+10T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.225+10T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.225+10T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.225+10T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.225+10T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.225+10T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.225+10T>C
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17229
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/14-31539162-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31539162
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31539162
    reference: chr 14
allele count: 6
allele frequency: 4.951066954928787e-5
allele num: 121186
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.126+27A>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.225+27A>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.225+27A>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.225+27A>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.225+27A>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.225+27A>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.225+27A>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.225+27A>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.225+27A>C
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17229
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4778
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56145
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

14-31539169-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31539169
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31539169
    reference: chr 14
allele count: 16
allele frequency: 1.320851288655539e-4
allele num: 121134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.225+34G>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.225+34G>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.225+34G>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.225+34G>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.225+34G>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.225+34G>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.126+34G>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.225+34G>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.225+34G>T
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17237
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4529
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-31539175-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31539175
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31539175
    reference: chr 14
allele count: 1
allele frequency: 8.257501940512956e-6
allele num: 121102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.126+40C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.225+40C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.225+40C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.225+40C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.225+40C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.225+40C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.225+40C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.225+40C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.225+40C>A
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 4533
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56131
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

14-31539185-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31539185
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31539184
    reference: chr 14
allele count: 1
allele frequency: 8.265282507356101e-6
allele num: 120988
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.225+52delC
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.225+52delC
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.225+52delC
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.126+52delC
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.225+52delC
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.225+52delC
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.225+52delC
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.225+52delC
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.225+52delC
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17227
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: GC
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

14-31539187-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31539187
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31539187
    reference: chr 14
allele count: 1
allele frequency: 8.265965712774223e-6
allele num: 120978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.225+52C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.225+52C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.225+52C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.225+52C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.225+52C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.225+52C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.126+52C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.225+52C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.225+52C>T
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17227
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

14-31542062-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542062
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542062
    reference: chr 14
allele count: 1
allele frequency: 8.333194446759221e-6
allele num: 120002
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.127-49C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.226-49C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.226-49C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.226-49C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.226-49C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.226-49C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.226-49C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.226-49C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.226-49C>T
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6864
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6027
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

14-31542063-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542063
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542063
    reference: chr 14
allele count: 2
allele frequency: 1.665084836072398e-5
allele num: 120114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.226-48A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.226-48A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.226-48A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.226-48A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.127-48A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.226-48A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.226-48A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.226-48A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.226-48A>G
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18194
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5765
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-31542064-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542064
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542064
    reference: chr 14
allele count: 4
allele frequency: 3.330391487519358e-5
allele num: 120106
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.226-47T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.127-47T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.226-47T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.226-47T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.226-47T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.226-47T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.226-47T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.226-47T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.226-47T>C
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20066
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33730
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2496
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

14-31542067-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542067
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542067
    reference: chr 14
allele count: 1
allele frequency: 8.327088017320342e-6
allele num: 120090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.226-44G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.226-44G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.226-44G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.226-44G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.127-44G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.226-44G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.226-44G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.226-44G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.226-44G>A
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4852
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34847
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

14-31542071-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542071
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542071
    reference: chr 14
allele count: 1
allele frequency: 8.329446258412741e-6
allele num: 120056
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.226-40C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.127-40C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.226-40C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.226-40C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.226-40C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.226-40C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.226-40C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.226-40C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.226-40C>T
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5751
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36751
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

14-31542072-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542072
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542072
    reference: chr 14
allele count: 1
allele frequency: 8.322237017310253e-6
allele num: 120160
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.226-39G>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.226-39G>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.127-39G>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.226-39G>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.226-39G>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.226-39G>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.226-39G>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.226-39G>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.226-39G>C
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

14-31542075-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542075
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542075
    reference: chr 14
allele count: 4
allele frequency: 3.32474441027346e-5
allele num: 120310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.127-36A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.226-36A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.226-36A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.226-36A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.226-36A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.226-36A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.226-36A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.226-36A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.226-36A>G
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21386
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5350
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5753
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

14-31542088-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542088
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542088
    reference: chr 14
allele count: 1
allele frequency: 8.287063893262618e-6
allele num: 120670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.226-23G>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.226-23G>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.226-23G>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.226-23G>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.226-23G>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.226-23G>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.226-23G>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.127-23G>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.226-23G>C
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5751
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5951
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/14-31542090-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542090
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542090
    reference: chr 14
allele count: 2
allele frequency: 1.656150113446283e-5
allele num: 120762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.226-21A>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.226-21A>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.226-21A>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.226-21A>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.127-21A>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.226-21A>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.226-21A>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.226-21A>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.226-21A>C
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5456
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24524
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43624
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

14-31542113-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542113
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542113
    reference: chr 14
allele count: 9
allele frequency: 7.425987656358296e-5
allele num: 121196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.228C>T
  hgvsp: ENST00000542754.2:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.228C>T
  hgvsp: ENST00000554609.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.228C>T
  hgvsp: ENST00000216366.4:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.129C>T
  hgvsp: ENST00000556480.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.228C>T
  hgvsp: ENST00000334725.4:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.228C>T
  hgvsp: ENST00000557346.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.228C>T
  hgvsp: ENST00000313566.6:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.228C>T
  hgvsp: ENST00000556232.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.228C>T
  hgvsp: ENST00000554345.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24990
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
hgvs: c.228C>T
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

14-31542114-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542114
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542114
    reference: chr 14
allele count: 6
allele frequency: 4.950413359515519e-5
allele num: 121202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.229G>A
  hgvsp: ENSP00000438170.2:p.Glu77Lys
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.229G>A
  hgvsp: ENSP00000334484.4:p.Glu77Lys
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.229G>A
  hgvsp: ENSP00000322508.6:p.Glu77Lys
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.130G>A
  hgvsp: ENSP00000451614.1:p.Glu44Lys
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.229G>A
  hgvsp: ENSP00000216366.4:p.Glu77Lys
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.229G>A
  hgvsp: ENSP00000450768.1:p.Glu77Lys
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.229G>A
  hgvsp: ENSP00000451479.1:p.Glu77Lys
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.229G>A
  hgvsp: ENSP00000452383.1:p.Glu77Lys
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.229G>A
  hgvsp: ENSP00000451918.1:p.Glu77Lys
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5993
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44818
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu77Lys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

14-31542129-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542129
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542129
    reference: chr 14
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.244G>T
  hgvsp: ENSP00000322508.6:p.Glu82Ter
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.145G>T
  hgvsp: ENSP00000451614.1:p.Glu49Ter
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.244G>T
  hgvsp: ENSP00000438170.2:p.Glu82Ter
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.244G>T
  hgvsp: ENSP00000451918.1:p.Glu82Ter
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.244G>T
  hgvsp: ENSP00000334484.4:p.Glu82Ter
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.244G>T
  hgvsp: ENSP00000451479.1:p.Glu82Ter
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.244G>T
  hgvsp: ENSP00000216366.4:p.Glu82Ter
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.244G>T
  hgvsp: ENSP00000452383.1:p.Glu82Ter
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.244G>T
  hgvsp: ENSP00000450768.1:p.Glu82Ter
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu82Ter
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

14-31542137-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542137
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542137
    reference: chr 14
allele count: 2
allele frequency: 1.648913366091746e-5
allele num: 121292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.252T>G
  hgvsp: ENSP00000451918.1:p.Ile84Met
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.252T>G
  hgvsp: ENSP00000216366.4:p.Ile84Met
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.153T>G
  hgvsp: ENSP00000451614.1:p.Ile51Met
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.252T>G
  hgvsp: ENSP00000450768.1:p.Ile84Met
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.252T>G
  hgvsp: ENSP00000334484.4:p.Ile84Met
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.252T>G
  hgvsp: ENSP00000322508.6:p.Ile84Met
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.252T>G
  hgvsp: ENSP00000452383.1:p.Ile84Met
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.252T>G
  hgvsp: ENSP00000451479.1:p.Ile84Met
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.252T>G
  hgvsp: ENSP00000438170.2:p.Ile84Met
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6000
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile84Met
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

14-31542153-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542153
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542153
    reference: chr 14
allele count: 2
allele frequency: 1.649375711293276e-5
allele num: 121258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.268G>A
  hgvsp: ENSP00000451918.1:p.Val90Ile
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.268G>A
  hgvsp: ENSP00000450768.1:p.Val90Ile
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.268G>A
  hgvsp: ENSP00000452383.1:p.Val90Ile
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.268G>A
  hgvsp: ENSP00000438170.2:p.Val90Ile
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.268G>A
  hgvsp: ENSP00000451479.1:p.Val90Ile
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.169G>A
  hgvsp: ENSP00000451614.1:p.Val57Ile
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.268G>A
  hgvsp: ENSP00000322508.6:p.Val90Ile
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.268G>A
  hgvsp: ENSP00000216366.4:p.Val90Ile
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.268G>A
  hgvsp: ENSP00000334484.4:p.Val90Ile
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val90Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-31542169-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542169
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542169
    reference: chr 14
allele count: 1
allele frequency: 8.25722920416825e-6
allele num: 121106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.284T>G
  hgvsp: ENSP00000451479.1:p.Phe95Cys
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.284T>G
  hgvsp: ENSP00000438170.2:p.Phe95Cys
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.284T>G
  hgvsp: ENSP00000451918.1:p.Phe95Cys
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.284T>G
  hgvsp: ENSP00000452383.1:p.Phe95Cys
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.284T>G
  hgvsp: ENSP00000334484.4:p.Phe95Cys
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.284T>G
  hgvsp: ENSP00000450768.1:p.Phe95Cys
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.284T>G
  hgvsp: ENSP00000322508.6:p.Phe95Cys
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.284T>G
  hgvsp: ENSP00000216366.4:p.Phe95Cys
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.185T>G
  hgvsp: ENSP00000451614.1:p.Phe62Cys
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5964
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5748
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Phe95Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

14-31542174-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542174
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542174
    reference: chr 14
allele count: 15
allele frequency: 1.239730895746897e-4
allele num: 120994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.289C>T
  hgvsp: ENSP00000334484.4:p.Arg97Ter
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.190C>T
  hgvsp: ENSP00000451614.1:p.Arg64Ter
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.289C>T
  hgvsp: ENSP00000452383.1:p.Arg97Ter
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.289C>T
  hgvsp: ENSP00000322508.6:p.Arg97Ter
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.289C>T
  hgvsp: ENSP00000216366.4:p.Arg97Ter
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.289C>T
  hgvsp: ENSP00000450768.1:p.Arg97Ter
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.289C>T
  hgvsp: ENSP00000438170.2:p.Arg97Ter
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.289C>T
  hgvsp: ENSP00000451918.1:p.Arg97Ter
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.289C>T
  hgvsp: ENSP00000451479.1:p.Arg97Ter
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5513
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg97Ter
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

14-31542175-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542175
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542175
    reference: chr 14
allele count: 2
allele frequency: 1.653521173338625e-5
allele num: 120954
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.290G>A
  hgvsp: ENSP00000216366.4:p.Arg97Gln
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.290G>A
  hgvsp: ENSP00000438170.2:p.Arg97Gln
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.290G>A
  hgvsp: ENSP00000451479.1:p.Arg97Gln
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.290G>A
  hgvsp: ENSP00000452383.1:p.Arg97Gln
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451918
  ensembl transcript: ENST00000556232
  gene symbol: AP4S1
  hgvsc: ENST00000556232.1:c.290G>A
  hgvsp: ENSP00000451918.1:p.Arg97Gln
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.290G>A
  hgvsp: ENSP00000450768.1:p.Arg97Gln
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.290G>A
  hgvsp: ENSP00000322508.6:p.Arg97Gln
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.191G>A
  hgvsp: ENSP00000451614.1:p.Arg64Gln
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.290G>A
  hgvsp: ENSP00000334484.4:p.Arg97Gln
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg97Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

14-31542201-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542201
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542201
    reference: chr 14
allele count: 1
allele frequency: 8.500365515717176e-6
allele num: 117642
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.294+22T>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.298+18T>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.294+22T>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.294+22T>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.294+22T>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.217T>A
  hgvsp: ENSP00000451614.1:p.Trp73Arg
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.294+22T>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.298+18T>A
  variant of: http://identifiers.org/hgnc/575
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40875
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Trp73Arg
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

14-31542203-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542203
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542203
    reference: chr 14
allele count: 1
allele frequency: 8.557101538566857e-6
allele num: 116862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.294+24G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.294+24G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.294+24G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.219G>A
  hgvsp: ENSP00000451614.1:p.Trp73Ter
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.298+20G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.294+24G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.294+24G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.298+20G>A
  variant of: http://identifiers.org/hgnc/575
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Trp73Ter
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-31542214-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542214
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542214
    reference: chr 14
allele count: 1
allele frequency: 9.041754823776199e-6
allele num: 110598
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.298+31C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.294+35C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.294+35C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.294+35C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.230C>T
  hgvsp: ENSP00000451614.1:p.Ser77Leu
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.294+35C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.294+35C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.298+31C>T
  variant of: http://identifiers.org/hgnc/575
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9834
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser77Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

14-31542239-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542239
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542239
    reference: chr 14
allele count: 1
allele frequency: 1.068147831659902e-5
allele num: 93620
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.294+60C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.294+60C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.294+60C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.*3C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.298+56C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.294+60C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.298+56C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.294+60C>T
  variant of: http://identifiers.org/hgnc/575
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9208
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26427
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14742
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD

14-31542248-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542248
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542248
    reference: chr 14
allele count: 1
allele frequency: 1.121855998564024e-5
allele num: 89138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.294+69T>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.294+69T>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.294+69T>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.294+69T>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.294+69T>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.298+65T>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.*12T>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.298+65T>A
  variant of: http://identifiers.org/hgnc/575
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2388
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3140
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-31542249-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542249
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542249
    reference: chr 14
allele count: 4
allele frequency: 4.534941725998821e-5
allele num: 88204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.*13C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.298+66C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.298+66C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.294+70C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.294+70C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.294+70C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.294+70C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.294+70C>A
  variant of: http://identifiers.org/hgnc/575
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21665
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5724
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

14-31542251-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542251
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542251
    reference: chr 14
allele count: 1
allele frequency: 1.14476726881425e-5
allele num: 87354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.298+68A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.294+72A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.294+72A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.294+72A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.294+72A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.*15A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.294+72A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.298+68A>G
  variant of: http://identifiers.org/hgnc/575
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14025
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30390
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3379
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

14-31542252-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542252
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542252
    reference: chr 14
allele count: 1
allele frequency: 1.153642047945363e-5
allele num: 86682
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.*16T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.298+69T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.294+73T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.294+73T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.298+69T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.294+73T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.294+73T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.294+73T>C
  variant of: http://identifiers.org/hgnc/575
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2496
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8822
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

14-31542253-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542253
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542253
    reference: chr 14
allele count: 2
allele frequency: 2.333504456993513e-5
allele num: 85708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.294+74A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.294+74A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.294+74A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.298+70A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.294+74A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.*17A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.298+70A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.294+74A>G
  variant of: http://identifiers.org/hgnc/575
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4921
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23023
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7716
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3676
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2664
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

14-31542261-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542261
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542261
    reference: chr 14
allele count: 1
allele frequency: 1.26046183321569e-5
allele num: 79336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.294+82C>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.294+82C>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.*25C>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.294+82C>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.294+82C>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.298+78C>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.298+78C>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.294+82C>G
  variant of: http://identifiers.org/hgnc/575
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14860
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3879
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

14-31542261-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542261
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542261
    reference: chr 14
allele count: 1
allele frequency: 1.26046183321569e-5
allele num: 79336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.298+78C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.294+82C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.294+82C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.298+78C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.294+82C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.*25C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.294+82C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.294+82C>T
  variant of: http://identifiers.org/hgnc/575
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14860
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4828
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3879
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

14-31542264-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542264
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542264
    reference: chr 14
allele count: 1
allele frequency: 1.308694969376538e-5
allele num: 76412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.294+85G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.298+81G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.298+81G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.294+85G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.294+85G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.*28G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.294+85G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.294+85G>A
  variant of: http://identifiers.org/hgnc/575
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22546
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

14-31542266-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31542266
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31542266
    reference: chr 14
allele count: 1
allele frequency: 1.344049891131959e-5
allele num: 74402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.294+87G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451614
  ensembl transcript: ENST00000556480
  gene symbol: AP4S1
  hgvsc: ENST00000556480.1:c.*30G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.294+87G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.294+87G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.294+87G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.294+87G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.298+83G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.298+83G>A
  variant of: http://identifiers.org/hgnc/575
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6797
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15933
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3379
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3970
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

14-31549745-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31549745
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31549745
    reference: chr 14
allele count: 101729
allele frequency: 8.565354304189681e-1
allele num: 118768
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.295-34T>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.298+7562T>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.299-2924T>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.295-34T>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.295-34T>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.295-34T>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.295-4230T>G
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.75e1
  variant carriers: 633
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.25e1
  variant carriers: 1164
genotype depth: GenotypeDepth
  all individuals: 9612
  bin: 2.75e1
  variant carriers: 9347
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 632
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 7.5e0
  variant carriers: 804
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 3.25e1
  variant carriers: 7046
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 5.75e1
  variant carriers: 908
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.75e1
  variant carriers: 714
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 4.75e1
  variant carriers: 1595
genotype depth: GenotypeDepth
  all individuals: 7701
  bin: 1.75e1
  variant carriers: 7596
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 4.25e1
  variant carriers: 2696
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 1.25e1
  variant carriers: 3708
genotype depth: GenotypeDepth
  all individuals: 10328
  bin: 2.25e1
  variant carriers: 9836
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 9.75e1
  variant carriers: 4968
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.75e1
  variant carriers: 761
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 6.25e1
  variant carriers: 745
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.25e1
  variant carriers: 720
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 9.25e1
  variant carriers: 646
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 3.75e1
  variant carriers: 4464
genotype quality: GenotypeQuality
  all individuals: 32538
  bin: 9.75e1
  variant carriers: 32269
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.5e0
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 97
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 2.25e1
  variant carriers: 377
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 8.25e1
  variant carriers: 2719
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.75e1
  variant carriers: 380
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 4.25e1
  variant carriers: 929
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 3.25e1
  variant carriers: 811
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.75e1
  variant carriers: 173
num of homozygotes: 43783
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/14-31549751-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31549751
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31549750
    reference: chr 14
allele count: 1
allele frequency: 8.377033524888167e-6
allele num: 119374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.295-25delC
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.298+7571delC
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.295-25delC
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.295-4221delC
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.295-25delC
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.295-25delC
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.299-2915delC
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12605
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: AC
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-31549762-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31549762
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31549762
    reference: chr 14
allele count: 2
allele frequency: 1.671597880413888e-5
allele num: 119646
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.295-17C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.298+7579C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.295-17C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.295-4213C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.295-17C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.295-17C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.299-2907C>A
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6371
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

14-31549763-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31549763
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31549763
    reference: chr 14
allele count: 9
allele frequency: 7.523322299127295e-5
allele num: 119628
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.298+7580T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.295-16T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.295-16T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.295-4212T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.299-2906T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.295-16T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.295-16T>C
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15729
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15265
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7998
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6372
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

14-31549766-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31549766
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31549766
    reference: chr 14
allele count: 4
allele frequency: 3.338730948366526e-5
allele num: 119806
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.295-13T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.299-2903T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.295-13T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.298+7583T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.295-13T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.295-13T>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.295-4209T>C
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6444
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2903
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
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: T
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

14-31549773-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31549773
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31549773
    reference: chr 14
allele count: 1
allele frequency: 8.334583520861462e-6
allele num: 119982
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.299-2896T>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.295-4202T>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.298+7590T>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.295-6T>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.295-6T>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.295-6T>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.295-6T>G
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6529
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12598
  bin: 9.75e1
  variant carriers: 1
hgvs: c.295-6T>G
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/14-31549776-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31549776
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31549776
    reference: chr 14
allele count: 2
allele frequency: 1.665639522294585e-5
allele num: 120074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.295-3C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.295-4199C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.299-2893C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.295-3C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.295-3C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.298+7593C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.295-3C>A
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12599
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2903
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6549
  bin: 6.75e1
  variant carriers: 0
hgvs: c.295-3C>A
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/14-31549779-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31549779
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31549779
    reference: chr 14
allele count: 1
allele frequency: 8.320021299254527e-6
allele num: 120192
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.295A>C
  hgvsp: ENSP00000216366.4:p.Ser99Arg
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.295-4196A>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.295A>C
  hgvsp: ENSP00000334484.4:p.Ser99Arg
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.299-2890A>C
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.295A>C
  hgvsp: ENSP00000438170.2:p.Ser99Arg
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.295A>C
  hgvsp: ENSP00000451479.1:p.Ser99Arg
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.298+7596A>C
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6578
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser99Arg
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

14-31549803-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31549803
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31549803
    reference: chr 14
allele count: 1
allele frequency: 8.277734549608463e-6
allele num: 120806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.298+7620A>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.319A>T
  hgvsp: ENSP00000334484.4:p.Asn107Tyr
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.306+13A>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.295-4172A>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.319A>T
  hgvsp: ENSP00000216366.4:p.Asn107Tyr
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.299-2866A>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.306+13A>T
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6711
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn107Tyr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

14-31549818-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31549818
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31549818
    reference: chr 14
allele count: 1
allele frequency: 8.267059076404159e-6
allele num: 120962
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.298+7635A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.299-2851A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.306+28A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.295-4157A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.334A>G
  hgvsp: ENSP00000216366.4:p.Ser112Gly
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.306+28A>G
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.334A>G
  hgvsp: ENSP00000334484.4:p.Ser112Gly
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser112Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

14-31549825-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31549825
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31549825
    reference: chr 14
allele count: 4
allele frequency: 3.306932985003059e-5
allele num: 120958
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.295-4150G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.306+35G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.306+35G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.341G>A
  hgvsp: ENSP00000216366.4:p.Trp114Ter
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.341G>A
  hgvsp: ENSP00000334484.4:p.Trp114Ter
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.298+7642G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.299-2844G>A
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30810
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Trp114Ter
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-31549832-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31549832
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31549832
    reference: chr 14
allele count: 168
allele frequency: 1.389210465385506e-3
allele num: 120932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.306+42G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.348G>A
  hgvsp: ENSP00000216366.4:p.Met116Ile
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.298+7649G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.306+42G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.348G>A
  hgvsp: ENSP00000334484.4:p.Met116Ile
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.295-4143G>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.299-2837G>A
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 18925
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 9.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 8189
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 17013
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met116Ile
num of homozygotes: 4
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

14-31549835-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31549835
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31549835
    reference: chr 14
allele count: 1
allele frequency: 8.271435424903638e-6
allele num: 120898
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.306+45C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.351C>T
  hgvsp: ENST00000334725.4:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.306+45C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.351C>T
  hgvsp: ENST00000216366.4:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.298+7652C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.295-4140C>T
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.299-2834C>T
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12567
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His117His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/14-31549837-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31549837
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31549837
    reference: chr 14
allele count: 1
allele frequency: 8.272256506129742e-6
allele num: 120886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000334484
  ensembl transcript: ENST00000334725
  gene symbol: AP4S1
  hgvsc: ENST00000334725.4:c.353C>A
  hgvsp: ENSP00000334484.4:p.Ser118Tyr
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000451479
  ensembl transcript: ENST00000557346
  gene symbol: AP4S1
  hgvsc: ENST00000557346.1:c.306+47C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000438170
  ensembl transcript: ENST00000542754
  gene symbol: AP4S1
  hgvsc: ENST00000542754.2:c.306+47C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000452383
  ensembl transcript: ENST00000554609
  gene symbol: AP4S1
  hgvsc: ENST00000554609.1:c.298+7654C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000216366
  ensembl transcript: ENST00000216366
  gene symbol: AP4S1
  hgvsc: ENST00000216366.4:c.353C>A
  hgvsp: ENSP00000216366.4:p.Ser118Tyr
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000450768
  ensembl transcript: ENST00000554345
  gene symbol: AP4S1
  hgvsc: ENST00000554345.1:c.295-4138C>A
  variant of: http://identifiers.org/hgnc/575
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100478
  ensembl protein: ENSP00000322508
  ensembl transcript: ENST00000313566
  gene symbol: AP4S1
  hgvsc: ENST00000313566.6:c.299-2832C>A
  variant of: http://identifiers.org/hgnc/575
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17081
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12570
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser118Tyr
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ

14-31549837-C-G
type: Variant
allele count: 3
allele frequency: 2.481676951838923e-5
allele num: 120886
alternate allele: G
canonical: true
consequence: missense
filter: PASS
hgvs: p.Ser118Cys
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 480
bin: 8.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1756
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 328
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
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: 3
allele frequency: 1.817080557238038e-4
allele num: 16510
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.32e1

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 5.055073e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 4.312e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.52e0

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

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

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1758
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 280
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 56148
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 469
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 591
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.861e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.91e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.667e0

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

DP
type: SiteQuality
SIO_000300: 5.055016e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
all individuals: 280
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56147
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 8.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 328
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 470
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1759
bin: 6.25e1
variant carriers: 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: 66724
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: 10402
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: 8654
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -8.96e-1

QD
type: SiteQuality
SIO_000300: 7.62e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.636e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.594e0

FS
type: SiteQuality
SIO_000300: 9.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.054906e6

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 591
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 328
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1766
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56148
bin: 9.75e1
variant carriers: 1

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

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 7.128e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e-1

DP
type: SiteQuality
SIO_000300: 5.054988e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.444e1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.83e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

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

GenotypeQuality
all individuals: 479
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 328
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56154
bin: 9.75e1
variant carriers: 82

GenotypeQuality
all individuals: 279
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 81
allele frequency: 1.213955997841856e-3
allele num: 66724
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
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: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.063113e6

FS
type: SiteQuality
SIO_000300: 5.610000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.48e0

MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

QD
type: SiteQuality
SIO_000300: 1.386e1

VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.51e-2

GenotypeQuality
all individuals: 478
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1770
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56150
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 279
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 7.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.099e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.3e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

DP
type: SiteQuality
SIO_000300: 5.055036e6

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

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56149
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 589
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 593
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.923076923076923e-4
allele num: 10400
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.437e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

DP
type: SiteQuality
SIO_000300: 5.055463e6

MQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.883e0

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.105e1

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

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 467
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1763
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56149
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 593
bin: 9.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 3
allele frequency: 4.496268097479092e-5
allele num: 66722
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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: 16508
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-1

QD
type: SiteQuality
SIO_000300: 1.142e1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

InbreedingCoeff
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BaseQRankSum
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SIO_000300: -6.268e0

FS
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -1.557e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 5.055548e6

GenotypeQuality
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bin: 2.75e1
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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bin: 9.25e1
variant carriers: 0

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

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

African
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allele count: 2
allele frequency: 1.923446816695518e-4
allele num: 10398
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e0

VQSLOD
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DP
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InbreedingCoeff
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.992e1

ClippingRankSum
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QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -4.152e0

FS
type: SiteQuality
SIO_000300: 1.781e0

MQRankSum
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SIO_000300: 3.6e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11576
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10396
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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South Asian
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MQRankSum
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SIO_000300: -1.6e-1

DP
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MQ
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SIO_000300: 5.977e1

ReadPosRankSum
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QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 4.61e0

FS
type: SiteQuality
SIO_000300: 8.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.8e-1

ClippingRankSum
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SIO_000300: -5.629999999999999e-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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Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
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allele frequency: 9.619084263178146e-5
allele num: 10396
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South Asian
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allele num: 16508
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
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: 4.96e-1

VQSLOD
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QD
type: SiteQuality
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FS
type: SiteQuality
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DP
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -4.0e-2

InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e-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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variant carriers: 0

South Asian
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allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: 4.59e0

InbreedingCoeff
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MQRankSum
type: SiteQuality
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ClippingRankSum
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QD
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VQSLOD
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FS
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ReadPosRankSum
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MQ
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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Latino
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African
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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FS
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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QD
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BaseQRankSum
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DP
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MQRankSum
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InbreedingCoeff
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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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variant carriers: 0

South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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Other
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Latino
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East Asian
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InbreedingCoeff
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QD
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ReadPosRankSum
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DP
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MQ
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FS
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VQSLOD
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MQRankSum
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BaseQRankSum
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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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African
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num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998410842253606e-5
allele num: 66702
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.213e0

QD
type: SiteQuality
SIO_000300: 1.36e1

FS
type: SiteQuality
SIO_000300: 5.203e0

DP
type: SiteQuality
SIO_000300: 5.053846e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

MQ
type: SiteQuality
SIO_000300: 5.951e1

VQSLOD
type: SiteQuality
SIO_000300: 8.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.818402230573403e-4
allele num: 16498
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66678
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: 1.2e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.053469e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

FS
type: SiteQuality
SIO_000300: 1.276e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

BaseQRankSum
type: SiteQuality
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QD
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SIO_000300: 1.263e1

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

DP
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 1.276e0

VQSLOD
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

InbreedingCoeff
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MQRankSum
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SIO_000300: 1.2e-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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variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.659e0

DP
type: SiteQuality
SIO_000300: 5.052625e6

MQ
type: SiteQuality
SIO_000300: 5.949e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 3.687e0

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

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

African
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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: 66652
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: 906
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 5.051408e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
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SIO_000300: 6.09e0

MQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.159999999999999e-1

FS
type: SiteQuality
SIO_000300: 3.213e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.528e1

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: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 9.005493350944076e-5
allele num: 66626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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South Asian
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allele count: 16
allele frequency: 9.702850212249849e-4
allele num: 16490
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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DP
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
SIO_000300: 8.699999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.41e-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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variant carriers: 0

African
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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: 1.501997656883655e-5
allele num: 66578
num of homozygotes: 0

South Asian
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East Asian
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Other
type: Population
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Latino
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DP
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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FS
type: SiteQuality
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QD
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ClippingRankSum
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MQ
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VQSLOD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502674761074713e-5
allele num: 66548
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 5.03941e6

MQ
type: SiteQuality
SIO_000300: 6.072e1

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.14e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.54e-1

QD
type: SiteQuality
SIO_000300: 1.491e1

GenotypeQuality
all individuals: 320
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 7.75e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 56119
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 148
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66540
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
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: 16492
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.039415e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.293e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.203e0

QD
type: SiteQuality
SIO_000300: 1.531e1

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: 2.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 558
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.087168249330411e-5
allele num: 16428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65892
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.87e-1

FS
type: SiteQuality
SIO_000300: 7.026e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.205e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.115e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.016e0

DP
type: SiteQuality
SIO_000300: 1.665281e6

VQSLOD
type: SiteQuality
SIO_000300: 6.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

GenotypeQuality
all individuals: 787
bin: 8.25e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1288
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516024377671993e-5
allele num: 65962
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.667223e6

VQSLOD
type: SiteQuality
SIO_000300: -9.041e-1

MQ
type: SiteQuality
SIO_000300: 5.895e1

QD
type: SiteQuality
SIO_000300: 8.199999999999999e0

FS
type: SiteQuality
SIO_000300: 3.882e0

MQRankSum
type: SiteQuality
SIO_000300: 8.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.58e-1

GenotypeQuality
all individuals: 1315
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 5765
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variant carriers: 4

GenotypeQuality
all individuals: 353
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65948
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.944390433599067e-4
allele num: 10286
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.345215759849906e-4
allele num: 8528
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e0

FS
type: SiteQuality
SIO_000300: 1.3258e1

MQRankSum
type: SiteQuality
SIO_000300: -1.57e-1

QD
type: SiteQuality
SIO_000300: 1.211e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.18e-1

DP
type: SiteQuality
SIO_000300: 1.669731e6

GenotypeQuality
all individuals: 5754
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1283
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GenotypeQuality
all individuals: 1197
bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65946
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.91e-1

QD
type: SiteQuality
SIO_000300: 1.734e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.751e0

FS
type: SiteQuality
SIO_000300: 2.652e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.88e-1

DP
type: SiteQuality
SIO_000300: 1.675498e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1201
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1083
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 453
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GenotypeQuality
all individuals: 547
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.088650754992694e-5
allele num: 16424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65924
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.689178e6

MQRankSum
type: SiteQuality
SIO_000300: -1.167e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

QD
type: SiteQuality
SIO_000300: 1.186e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.03e-1

FS
type: SiteQuality
SIO_000300: 3.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.927e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

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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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515335192144502e-5
allele num: 65992
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.83e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.182e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

MQRankSum
type: SiteQuality
SIO_000300: -8.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.694652e6

GenotypeQuality
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bin: 1.75e1
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
all individuals: 660
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GenotypeQuality
all individuals: 328
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
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: 16442
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.51288056206089e-4
allele num: 8540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.799e0

FS
type: SiteQuality
SIO_000300: 3.022e0

DP
type: SiteQuality
SIO_000300: 1.705712e6

QD
type: SiteQuality
SIO_000300: 1.202e1

GenotypeQuality
all individuals: 179
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 649
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GenotypeQuality
all individuals: 324
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GenotypeQuality
all individuals: 1180
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 129
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GenotypeQuality
all individuals: 117
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GenotypeQuality
all individuals: 529
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variant carriers: 0

GenotypeQuality
all individuals: 9
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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: 3.75e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66314
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

BaseQRankSum
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.008e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-1

DP
type: SiteQuality
SIO_000300: 1.731969e6

MQ
type: SiteQuality
SIO_000300: 5.923e1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e-1

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
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.01331886940276e-5
allele num: 66372
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 1.4787e1

QD
type: SiteQuality
SIO_000300: 8.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.24e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.5e-2

DP
type: SiteQuality
SIO_000300: 1.734084e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Latino
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allele count: 3
allele frequency: 2.600104004160167e-4
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.788153579008296e-4
allele num: 10366
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.488e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.25e-1

BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.746071e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

InbreedingCoeff
type: SiteQuality
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QD
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SIO_000300: 1.052e1

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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variant carriers: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

Other
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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: 66636
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: 11540
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.635482307319437e-4
allele num: 16504
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

FS
type: SiteQuality
SIO_000300: 1.151e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.76e-1

MQ
type: SiteQuality
SIO_000300: 5.904e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.82e-2

QD
type: SiteQuality
SIO_000300: 1.214e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

VQSLOD
type: SiteQuality
SIO_000300: 2.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 1.746288e6

GenotypeQuality
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bin: 1.75e1
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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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 11558
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-1

DP
type: SiteQuality
SIO_000300: 1.747385e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 1.408e1

FS
type: SiteQuality
SIO_000300: 4.684e0

BaseQRankSum
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SIO_000300: -3.219e0

VQSLOD
type: SiteQuality
SIO_000300: 8.34e-1

MQRankSum
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SIO_000300: -4.46e-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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10388
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
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.999490086685263e-5
allele num: 66678
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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BaseQRankSum
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FS
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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DP
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ReadPosRankSum
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

African
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allele count: 0
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Other
type: Population
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allele frequency: 0.0e0
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Latino
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allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

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

MQ
type: SiteQuality
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BaseQRankSum
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FS
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VQSLOD
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MQRankSum
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ReadPosRankSum
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DP
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QD
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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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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Latino
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South Asian
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allele frequency: 6.063545961678389e-5
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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European (Finnish)
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QD
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MQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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FS
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MQ
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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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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.603262755987504e-4
allele num: 11524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.203224642040669e-4
allele num: 66488
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31696014828545e-4
allele num: 8632
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.213444970270598e-4
allele num: 16482
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

FS
type: SiteQuality
SIO_000300: 2.228e0

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.16e0

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.44e-1

QD
type: SiteQuality
SIO_000300: 1.203e1

DP
type: SiteQuality
SIO_000300: 1.744928e6

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: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
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: 11522
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.654373431164318e-5
allele num: 10358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504664459825459e-5
allele num: 66460
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.132e0

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

DP
type: SiteQuality
SIO_000300: 1.74405e6

QD
type: SiteQuality
SIO_000300: 1.252e1

MQ
type: SiteQuality
SIO_000300: 5.945e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.080000000000001e-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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bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64396
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.821253191907288e-5
allele num: 10182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16080
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e0

QD
type: SiteQuality
SIO_000300: 1.88e1

FS
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.843e-1

DP
type: SiteQuality
SIO_000300: 1.698812e6

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63930
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.251562890722681e-5
allele num: 15996
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11100
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

DP
type: SiteQuality
SIO_000300: 1.688013e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.119e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.521e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 593
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GenotypeQuality
all individuals: 5732
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.666222340709144e-5
allele num: 60016
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9822
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7832
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.128e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

VQSLOD
type: SiteQuality
SIO_000300: -4.017e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.711e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.764e1

MQRankSum
type: SiteQuality
SIO_000300: 5.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.511e0

DP
type: SiteQuality
SIO_000300: 1.585568e6

GenotypeQuality
all individuals: 2577
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 215
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5723
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 285
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variant carriers: 0

GenotypeQuality
all individuals: 1962
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7950
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.006259529732766e-5
allele num: 49844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5784
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

DP
type: SiteQuality
SIO_000300: 1.25226e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.98e-1

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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bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5954
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5588
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.191140514885661e-5
allele num: 13906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47144
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.421e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.866e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.42e-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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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.581481163648846e-5
allele num: 46612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7324
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5540
num of homozygotes: 0

African
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
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.333e0

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7218
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5788
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.169197396963124e-5
allele num: 46100
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.531e0

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-2

VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 482
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East Asian
type: Population
allele count: 1
allele frequency: 1.742767514813524e-4
allele num: 5738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45758
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13704
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.62e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 3.106e0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

QD
type: SiteQuality
SIO_000300: 1.139e1

DP
type: SiteQuality
SIO_000300: 1.123924e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.213270771546191e-5
allele num: 45182
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6992
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5428
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.775568181818182e-4
allele num: 5632
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

DP
type: SiteQuality
SIO_000300: 1.105754e6

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.041e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.281e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.999999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3280
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GenotypeQuality
all individuals: 495
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7696
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.617306520414382e-5
allele num: 13128
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.035707e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.497e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

QD
type: SiteQuality
SIO_000300: 1.307e1

MQRankSum
type: SiteQuality
SIO_000300: 6.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-2

GenotypeQuality
all individuals: 356
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variant carriers: 0

GenotypeQuality
all individuals: 1229
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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: 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
all individuals: 281
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.617306520414382e-5
allele num: 13128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5112
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5220
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

DP
type: SiteQuality
SIO_000300: 1.035707e6

VQSLOD
type: SiteQuality
SIO_000300: 2.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e0

QD
type: SiteQuality
SIO_000300: 1.307e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.497e0

GenotypeQuality
all individuals: 1045
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3933
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 159
bin: 4.75e1
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GenotypeQuality
all individuals: 5717
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 472
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variant carriers: 0

GenotypeQuality
all individuals: 73
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GenotypeQuality
all individuals: 498
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 73
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variant carriers: 0

GenotypeQuality
all individuals: 27632
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7426
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.740341106856944e-4
allele num: 5746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39678
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.781e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.415e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.57e-2

QD
type: SiteQuality
SIO_000300: 8.640000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

VQSLOD
type: SiteQuality
SIO_000300: -8.659e-1

DP
type: SiteQuality
SIO_000300: 1.010153e6

GenotypeQuality
all individuals: 26356
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3695
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2214
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
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GenotypeQuality
all individuals: 5717
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 470
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GenotypeQuality
all individuals: 260
bin: 4.25e1
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GenotypeQuality
all individuals: 1021
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1408
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5516
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.384657989476599e-4
allele num: 7222
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5080
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38502
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.55e0

VQSLOD
type: SiteQuality
SIO_000300: -1.993e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.419e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.171e0

DP
type: SiteQuality
SIO_000300: 9.931e5

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.64e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
all individuals: 3039
bin: 6.75e1
variant carriers: 2917

GenotypeQuality
all individuals: 2940
bin: 7.75e1
variant carriers: 2880

GenotypeQuality
all individuals: 1418
bin: 5.75e1
variant carriers: 1386

GenotypeQuality
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bin: 3.75e1
variant carriers: 1364

GenotypeQuality
all individuals: 2019
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variant carriers: 1988

GenotypeQuality
all individuals: 2432
bin: 5.25e1
variant carriers: 2399

GenotypeQuality
all individuals: 3446
bin: 6.25e1
variant carriers: 2976

GenotypeQuality
all individuals: 1584
bin: 7.25e1
variant carriers: 1527

GenotypeQuality
all individuals: 1387
bin: 8.75e1
variant carriers: 1362

GenotypeQuality
all individuals: 2389
bin: 9.25e1
variant carriers: 2359

Other
type: Population
allele count: 770
allele frequency: 8.690744920993227e-1
allele num: 886
num of homozygotes: 339

European (Finnish)
type: Population
allele count: 5684
allele frequency: 8.675213675213675e-1
allele num: 6552
num of homozygotes: 2464

African
type: Population
allele count: 9765
allele frequency: 9.641587677725119e-1
allele num: 10128
num of homozygotes: 4708

Latino
type: Population
allele count: 10419
allele frequency: 9.191072688779111e-1
allele num: 11336
num of homozygotes: 4791

European (Non-Finnish)
type: Population
allele count: 55418
allele frequency: 8.496305154386288e-1
allele num: 65226
num of homozygotes: 23509

East Asian
type: Population
allele count: 5690
allele frequency: 6.721001653673517e-1
allele num: 8466
num of homozygotes: 1902

South Asian
type: Population
allele count: 13983
allele frequency: 8.645356745393842e-1
allele num: 16174
num of homozygotes: 6070

VQSLOD
type: SiteQuality
SIO_000300: 4.87e0

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

QD
type: SiteQuality
SIO_000300: 3.247e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.602467e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.23e-2

GenotypeQuality
all individuals: 2250
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
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variant carriers: 0

GenotypeQuality
all individuals: 1041
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 384
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GenotypeQuality
all individuals: 2955
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GenotypeQuality
all individuals: 6318
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16172
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.873617693522907e-5
allele num: 10128
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

FS
type: SiteQuality
SIO_000300: 4.68e0

QD
type: SiteQuality
SIO_000300: 1.901e1

DP
type: SiteQuality
SIO_000300: 2.034194e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-2

GenotypeQuality
all individuals: 24302
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2209
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2296
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GenotypeQuality
all individuals: 672
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GenotypeQuality
all individuals: 2897
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GenotypeQuality
all individuals: 698
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GenotypeQuality
all individuals: 34
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GenotypeQuality
all individuals: 1034
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GenotypeQuality
all individuals: 479
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GenotypeQuality
all individuals: 12606
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65820
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.326663564448581e-4
allele num: 8596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.022e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.064037e6

FS
type: SiteQuality
SIO_000300: 2.459e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.685e0

VQSLOD
type: SiteQuality
SIO_000300: 7.43e-1

GenotypeQuality
all individuals: 24896
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1162
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1437
bin: 9.25e1
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GenotypeQuality
all individuals: 12609
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variant carriers: 9

GenotypeQuality
all individuals: 817
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1419
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2291
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variant carriers: 0

GenotypeQuality
all individuals: 2205
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.046511627906977e-3
allele num: 8600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65798
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10142
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: 4.96e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 1.843e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-1

QD
type: SiteQuality
SIO_000300: 1.459e1

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

DP
type: SiteQuality
SIO_000300: 2.067039e6

GenotypeQuality
all individuals: 1063
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 610
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2216
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1438
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1039
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26206
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12606
bin: 9.75e1
variant carriers: 4

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.068329388919231e-5
allele num: 65916
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-1

QD
type: SiteQuality
SIO_000300: 1.221e1

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e0

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.08e-1

FS
type: SiteQuality
SIO_000300: 4.5e-1

DP
type: SiteQuality
SIO_000300: 2.072668e6

GenotypeQuality
all individuals: 767
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 939
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 27844
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2217
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1438
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2311
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2906
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.16370808678501e-5
allele num: 16224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.365e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.1e-2

QD
type: SiteQuality
SIO_000300: 1.135e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 1.2254e1

VQSLOD
type: SiteQuality
SIO_000300: -1.585e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 2.086872e6

GenotypeQuality
all individuals: 211
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2216
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28427
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1437
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2312
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.964250638381458e-4
allele num: 10182
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16226
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66096
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.798e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.036e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.239e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e-1

FS
type: SiteQuality
SIO_000300: 1.1818e1

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

DP
type: SiteQuality
SIO_000300: 2.093309e6

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

GenotypeQuality
all individuals: 339
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28852
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12596
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1438
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2217
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2911
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16240
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511624391571182e-5
allele num: 66154
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.226000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.85e-1

DP
type: SiteQuality
SIO_000300: 2.097908e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.044e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

QD
type: SiteQuality
SIO_000300: 1.231e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.72e0

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

GenotypeQuality
all individuals: 2925
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30557
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1437
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

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

GenotypeQuality
all individuals: 12596
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2219
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66494
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.119951040391677e-5
allele num: 16340
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.8e-1

QD
type: SiteQuality
SIO_000300: 1.249e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.348e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 2.118228e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

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

GenotypeQuality
all individuals: 12597
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 1437
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30775
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 6737
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2935
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502223290469895e-5
allele num: 66568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
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: 11534
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.122198e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.157e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.157e0

QD
type: SiteQuality
SIO_000300: 1.192e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.648e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

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

GenotypeQuality
all individuals: 6734
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12599
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2212
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
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variant carriers: 0

GenotypeQuality
all individuals: 2930
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
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variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.110228522546743e-5
allele num: 16366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
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: 11538
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.471418653089562e-4
allele num: 8642
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.122234e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.243e0

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

MQRankSum
type: SiteQuality
SIO_000300: 3.74e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 1.747e0

QD
type: SiteQuality
SIO_000300: 1.073e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.05e-1

GenotypeQuality
all individuals: 12693
bin: 9.75e1
variant carriers: 164

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
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variant carriers: 0

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
all individuals: 6727
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1033
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
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variant carriers: 0

GenotypeQuality
all individuals: 2332
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30689
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.704326923076923e-4
allele num: 66560
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.202913631633715e-4
allele num: 11532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

East Asian
type: Population
allele count: 140
allele frequency: 1.619995371441796e-2
allele num: 8642
num of homozygotes: 4

Other
type: Population
allele count: 3
allele frequency: 3.34075723830735e-3
allele num: 898
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.112469437652811e-5
allele num: 16360
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.128197e6

FS
type: SiteQuality
SIO_000300: 5.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.664e0

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 3.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.83e-2

QD
type: SiteQuality
SIO_000300: 1.149e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.06e-1

GenotypeQuality
all individuals: 1031
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2335
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2928
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30702
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
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variant carriers: 0

GenotypeQuality
all individuals: 1439
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6739
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
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: 11530
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.113964294448521e-5
allele num: 16356
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.15e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 6.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.941e0

FS
type: SiteQuality
SIO_000300: 3.349e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

DP
type: SiteQuality
SIO_000300: 2.120741e6

GenotypeQuality
all individuals: 6744
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 70
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2334
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2921
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.689922480620155e-5
allele num: 10320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
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: 8642
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

FS
type: SiteQuality
SIO_000300: 2.651e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

DP
type: SiteQuality
SIO_000300: 2.120287e6

VQSLOD
type: SiteQuality
SIO_000300: 3.56e-1

QD
type: SiteQuality
SIO_000300: 9.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.562e0

MQ
type: SiteQuality
SIO_000300: 6.0e1